J Neurol Neurosurg Psychiatry 1999;67:827–834 827 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from

On physical examination, blood pressure was secondary to thrombosis of the inferior vena 110 over 75 mm Hg. Heart, lungs, and cava has not been reported previously. LETTERS TO abdomen were normal. Peripheral arterial pul- The mechanism by which the neurological sations were present. Both legs were slightly symptoms and signs were produced is prob- THE EDITOR swollen and coloured red to purple and livido ably twofold. Firstly, there is compression of reticularis was present. On catheterisation of cauda equina nerve roots in the spinal canal the bladder, there was no urine retention. and foramen by the dilated anterior internal Neurological examination showed weakness of vertebral veins. Secondly, the symptoms and both legs with proximal strength Medical signs may be due to ischaemia of the cauda Acute cauda equina syndrome caused Research Council (MRC) grade 2–3 and distal equina caused by stasis of the blood flow in by thrombosis of the inferior vena cava MRC grade 1–2. There was bilateral sensory the radicular veins. The mentioned anterior loss in the dermatomesL1toS1.Tendon internal vertebral veins and radicular veins are Deep venous thrombosis of the lower limbs is reflexes of the legs were absent. Plantar part of the spinal venous plexus. This valveless the most common vascular disorder in hospi- responses were both indiVerent. The patient plexus is connected by the intervertebral veins tal. Although the clinical features are not spe- was diagnosed as having an acute cauda equina to the ascending lumbar veins which drain to cific, the most important symptoms are syndrome with possibly deep venous thrombo- the inferior caval vein (fig 2). The ascending oedema, local tenderness, and pain. Well sis of both legs, and an immediate MRI of the lumbar veins, however, also communicate known complications of deep venous throm- thoracic and lumbar spine was performed. This with the azygos system and the occipital and bosis are pulmonary embolism and chronic MRI disclosed a strongly dilated anterior basilar sinuses. After occlusion of the inferior venous insuYciency. Neurological complica- epidural venous plexus with compression of the vena cava, this vertebrolumbar collateral tions are uncommon after deep venous cauda equina and nerve roots in the foramina pathway can function as an alternative route thrombosis. (fig 1 A–C). Signal intensity of the thoracic spi- for venous blood from the lower limbs. Due to We report on a patient who presented with nal cord was normal. Ultrasound examination this bypass eVect running parallel to the infe- an acute cauda equina syndrome, which of the lower abdomen and legs showed throm- rior caval vein, the anterior epidural veins are turned out to be caused by thrombosis of the bosis of the inferior caval vein. Abdominal CT dilated by increased blood flow. In our case, inferior vena cava. confirmed the presence of thrombosis of the the dilated veins have probably compressed A 58 year old previously healthy white man inferior caval vein (just below the insertion of the cauda equina and certainly compressed presented at the emergency department of the renal veins) extending into the iliac veins. spinal roots in the intervertebral foramina, as our hospital with acute severe low back pain No other abnormalities that could have caused can be seen on the MRI. irradiating to both legs. The pain in the legs the inferior vena cava thrombosis were seen on Vascular spinal neurological complications was severe and was located from the lower CT. Routine laboratory investigations (includ- are also known in spinal arteriovenous half of the upper legs down to the feet. He ing coagulability testing) were unremarkable, malformations (AVMs) and spinal angiomas. also had noted decreased strength as well as except for slight increase in erythrocyte More than half of the patients with AVMs sensory disturbances of both legs. Spontane- sedimentation rate. have bladder dysfunction, paresis, and sen- ous micturition was not possible. The patient was diagnosed as having an sory change caused by the ischaemic eVect of acute cauda equina syndrome due to dilated venous hypertension. In patients with spinal anterior epidural veins secondary to thrombo- AVMs, an apoplectiform onset of clinical sis of the inferior vena cava. He was treated presentation, as presented in our patient, is

with intravenous heparin and acenocoumarol described in 30%-50% due to thrombosis or copyright. to prevent spread of thrombosis. In the next haemorrhage.1 Neurological signs are also few days, the neurological disturbances known as a related phenomena to spinal gradually diminished. Despite exhaustive test- angiomas. Although ischaemia of the cord in ing, no cause of the thrombosis was found. these angiomas is mostly caused by stealing We report on a patient with an acute cauda blood through a significant arteriovenous equina syndrome due to thrombosis of the shunt, spinal compression by very large inferior vena cava. An acute cauda equina draining veins is also important in some syndrome is usually caused by a prolapsed patients.2 Besides cauda equina compression, intervertebral disc and less often by a dilated veins secondary to thrombosis of the tumour, trauma, or epidural bleeding. inferior vena cava can also lead to destruction Well known complications of deep venous of pedicles of lumbar vertebral bodies and thrombosis are pulmonary embolism and partial obstruction of the ureter.34In conclu- chronic venous insuYciency. To our knowl- sion, an acute cauda equina syndrome may be edge, an acute cauda equina syndrome rarely caused by a dilated venous spinal http://jnnp.bmj.com/ plexus secondary to thrombosis of the

3 7

2

5 1 on September 27, 2021 by guest. Protected

6

4

8

10 9

Figure 2 Diagram of lumbar vertebral veins.5 (1) Lateral anterior internal vertebral vein (AIVV); (2) medial AIVV; (3) posterior internal vertebral venous plexus; (4) Figure 1 Lumbar spine MRI. Strongly dilated epidural and foraminal veins as black tubular basivertebral vein; (5) intervertebral vein structures due to signal loss, consistent with increased speed of flow. (A) Axial T1 weighted cut at (IVV); (6) ascending lumbar vein (ALV);(7) L4–5; Anterior epidural plexus indicated by arrows. (B) Mid-sagittal proton density weighted cut posterior external vertebral venous plexus; (8) showing compression of dural sac at L5 and S1 levels. (C) Lateral sagittal T1 weighted cut anterior external vertebral venous plexus; (9) showing dilated foraminal veins. left lumbar vein; (10) inferior caval vein. 828 J Neurol Neurosurg Psychiatry 1999;67 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from inferior vena cava. The list of causes of the drosis. Routine laboratory blood tests, screening thetic pericarotid lesions after infrequent bilat- cauda equina syndromes5 should therefore for cardiovascular diseases, and Doppler sonog- eral internal carotid artery dissections whereas also include inferior vena cava thrombosis. raphy were all normal. Cranial magnetic reso- unilateral dissections may cause only a mild 1 JELLE DE KRUIJK nance angiography and cerebral digital subtrac- and clinically often inapparent irritation. ARTHUR KORTEN tion angiography showed bilateral dissection of Cusimano and Sekhar described a syn- JELIS BOITEN the internal carotid artery with dissecting aneu- drome they termed “pseudocerebrospinal Department of Neurology rysms on both sides (figure A-D). fluid rhinorrhoea” with ipsilateral nasal hy- Anticoagulation with heparin and then persecretion and nasal stuYness after surgery JAN WILMINK 4 Department of Radiology, University Hospital dicumarole was initiated and the patient’s of the cranial base. In these patients, the Maastricht, The Netherlands symptoms gradually improved. On follow up pericarotid sympathetic plexus, the petrous Correspondence to: Dr JR de Kruijk, Department examination 6 months and 14 months later, he or cavernous carotid artery parts, and the of Neurology, University Hospital, Maastricht, P showed marginal ptosis and a slightly smaller greater petrosal nerve had been removed or Debeylaan 25, NL 6229 HX, Maastricht, The pupil (2 mm) in the dark on the left side, but dissected. Experimental selective parasympa- Netherlands. Fax 0031 43 3877055; email no headaches, rhinorrhoea, or tinnitus. Cer- thetic nerve activation in the nasal mucosa of [email protected] ebral magnetic resonance angiography of the the cat leads to an increase in nasal secretion left internal carotid artery was now normal but and vascular congestion.5 Lung found nasal 1 Byrne T, Waxman S. Neoplastic causes of spinal cord compression: intradural-extramedullary the dissecting aneurysm of the right internal congestion to be related to a withdrawal of and intramedullary tumors. In: Plum F, ed. carotid artery was unchanged. Therefore anti- sympathetic discharge rather than to an over- Contempory neurology. Spinal cord compression: coagulation was continued. activity of the parasympathetic nerves.6 Thus diagnosis and principles of management. Philadel- We suggest that in our patient bilateral the nasal hypersecretion and stu ness in our phia: FA Davis, 1990. (Series 33.) Y 2 Friedman A, Sprayregen S, Appelman R. Partial carotid artery dissection led to a lesion and patient is in agreement with the assumption obstruction of the ureter by venous collaterals dysfunction of the sympathetic pericarotid of a lesion of pericarotid sympathetic nerve in inferior vena cava thrombosis. Angiology plexus leading to a parasympathomimetic state fibres after carotid artery dissection. 1978;29:925–8. 3 Singson R, Dee G, Quader M. Case report 265. with nasal hypersecretion and congestion of In the diVerential diagnosis, cluster head- Skeletal Radiol 1984;11:293–5. nasal vessels. This condition was reversible ache and paroxysmal hemicrania have to be 4 Djindjian R. Angiomas of the spinal cord. In: after recanalisation of the left internal carotid considered. Our patient’s symptoms diVered Vinken P, Bruyn G. Handbook of clinical neurol- artery. Nasal stuYness or rhinorrhea may be from typical cluster headache and paroxysmal ogy. Congenital malformations of the spine and spi- nal cord. New-York: Elsviers, 1978;32:486–7. rarely reported by patients because this phe- hemicrania in that headache followed the 5 Wilmink J. Radiology of sciatica. Groningen: nomenon may be associated only with sympa- beginning of autonomous symptoms after Rijksuniversiteit Groningen, 1988.

Persisting rhinorrhoea and headache as the initial symptom of bilateral carotid artery dissection

Carotid artery dissection is a frequent non-atherosclerotic cause of stroke in young

adults. In up to 20% of cases it is bilateral or copyright. associated with vertebral artery dissection.1 Common clinical features include unilateral pain on the side of the dissection, signs of cerebral ischaemia, ear bruits, and Horner’s syndrome,2 which is usually incomplete and sometimes transient.3 Horner’s syndrome is thought to result from a lesion of the periarterial sympathetic plexus caused by the dissection.2 Rhinorrhoea and nasal conges- tion have not yet been reported as symptoms of spontaneous carotid artery dissection but have been seen in patients undergoing cranial base surgery.4 We here describe a patient with spontaneous bilateral carotid artery dissec- http://jnnp.bmj.com/ tion in whom rhinorrhoea, nasal congestion, and headache were the first symptoms, which preceded the development of incomplete Horner’s syndrome for several weeks. A previously healthy 33 year old man was referred for evaluation of headache. He admitted to having had rhinorrhoea and nasal stuYness for 7 weeks. Treatment with antibi-

otics and corticosteroids before admission on September 27, 2021 by guest. Protected had been unsuccessful. An infectious or aller- gic cause could not be determined. Four weeks later he developed severe periodical retro-orbital headache lasting for hours, and pulsatile tinnitus on the right side. Two weeks before admission he noted severe stabbing retro-orbital pain on the left side irradiating to the neck. This did not respond to aspirin. Pain attacks and vomiting occurred regularly during the afternoon, progressing during the night without fluctuations. Intake of alcohol and nicotine triggered the attacks. He had no history of cluster headache or migraine. Axial baseline images of a time of flight MR angiography at the level of the clivus (A), and at the On examination he showed rhinorrhoea, level of the atlas (B). On (A) an older dissecting aneurysm is clearly indicated by an intimaflap increased lacrimation of the left eye without (arrows), dividing the false and original lumen of the right carotid artery. On (B) a recent redness, left eyelid swelling, incomplete intramural haematoma (arrows) of the left internal carotid artery is visible surrounding the hyperintense lumen laterally. C and D: lateral views of a digital subtraction angiogram of both Horner’s syndrome on the left side, and ear common carotid arteries made during the first stay in hospital. On the right side (C) a larger bruits on the right side that were not detected by dissecting aneurysm of the internal carotid artery is visible just beneath the cranial base (arrows). On auscultation of the skull. There were no other the left side (D) the dissecting aneurysm is smaller and only seen by an irregular vessel lumen of the focal neurological deficits, in particular no anhy- internal carotid artery (arrow). J Neurol Neurosurg Psychiatry 1999;67 829 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from several days and pain was progressing over White muscle disease in humans: appeared pale. Because her voluntary food hours during bouts without fluctuations.7 myopathy caused by selenium deficiency intake was not suYcient to maintain an We conclude that structural lesions of sym- in under long term adequate weight, we started parenteral nutri- pathetic nerve fibres should be considered total parenteral nutrition tion. A month after initiation of parenteral when (1) the headache profile is not typical nutrition, her body weight had increased for cluster headache and paroxysmal Selenium is an essential trace element that is from 22 kg to 27 kg and her presenting com- hemicrania, and (2) autonomous symptoms known to be a component of glutathione per- plaint of general fatigue had disappeared. precede and outlast headache. oxidase, a scavenger of hydroperoxides.1 Its Instead, she had begun to complain of proxi- KAI G KAHL deficiency causes a decrease in glutathione mal muscle pain and weakness in all four MARKUS NAUMANN peroxidase function, thereby resulting in oxi- limbs, and soon after, she had diYculty in KLAUS V TOYKA dative damage to many organs. The two walking or standing up. Department of Neurology, major clinical signs in patients with selenium Laboratory studies showed a rapid rise in Julius-Maximilians-Universität, Würzburg, Germany deficiency are skeletal myopathy and cardio- creatine kinase to 5638 (normal 35–169) MONIKA WARMUTH-METZ myopathy. White muscle disease, named IU/l. Other myogenic enzymes such as Department of Neuroradiology, Julius-Maximilians because of its characteristic acolouration of myoglobin and aldolase were also raised. Universität, Würzburg, Germany the muscle is a myopathy caused by selenium Serum electrolytes were all within the normal Correspondence to: Dr M Naumann, Neurolo- deficiency in animals in the areas where the range. Serum thyroxin and thyroid stimulat- gische Klinik, Julius-Maximilians-Universität 2 soil is low in selenium. In humans, it was ing hormone concentrations were normal, Würzburg, Josef-Schneider Straâe 11, 97080 Würz- demonstrated that Keshan disease, dilated burg, Germany but serum triiodothyronine was slightly cardiomyopathy in the Keshan area in China, decreased because of impaired conversion of 1 Guillon B, Levy C, Bousser MG. Internal was caused by selenium deficiency.3 In thyroxin caused by malnutrition. Serum sele- carotid artery dissection: an update. J Neurol addition, there are reports that selenium defi- Sci 1998;153:146–58. nium concentration markedly decreased to ciency occurs in patients who are nourished 2 Anson J, and Crowell, RM. Cervicocranial arte- 13 (normal 107–171) µg/l, and glutathione rial dissection. Neurosurgery 1991;29:89–96. by total parenteral nutrition alone for a long 3 Leira, EC, Bendixen, BH, Kardon, RH, et al. time because of inflammatory bowel disease peroxidase also decreased to 145 (normal Brief, transient Horner’s syndrome can be the 280–450) IU/l. Serum vitamin E decreased to hallmark of a carotid artery dissection. or resection of the intestine due to various Neurol- 45 0.35 (normal 0.75–1.41) mg/dl despite being ogy 1998;50:289–90. intestinal diseases. We experienced a case of 4 Cusimano MD, Sekhar LN. Pseudo- anorexia nervosa with skeletal myopathy added to the parenteral nutrition. Because cerebrospinal fluid rhinorrhea. J Neurosurg caused by selenium deficiency under long serum vitamin E concentration often parallels 1994;80:26–30. the serum selenium concentration, these 5 Anggard A. Parasympathetic control of blood term parenteral nutrition. circulation and secretion in the nasal mucosa. A 28 year old woman was admitted to our antioxidants will compensate for each other. Rhinology 1975;13:147–53. hospital witha7yearhistory of anorexia ner- The forearm ischaemic exercise test showed a 6 Lung MA. The role of the autonomic nerves in normal response. Chest radioraphy showed the control of nasal circulation. Biol Signals vosa receiving parenteral nutrition intermit- 1995;4:179–85. tently. At admission, she complained of gen- neither congestive changes nor enlargement 7 Olesen J. Headache Classification Committee of eral fatigue, but had no muscle weakness or of the heart. On an echocardiogram, the wall the International Headache Society. Classifi- myalgia. On physical examination, she was motion of the left cardiac ventricle was cation and diagnostic criteria for headache dis- orders, cranial neuralgia, and facial pain. markedly emaciated (weight 22 kg, height normal. Electromyography of proximal limb Cephalalgia 1988;8(suppl 7):1–96. 158 cm). Her skin was dry and her nail beds muscles showed myopathic patterns. Motor copyright. http://jnnp.bmj.com/ on September 27, 2021 by guest. Protected

Microscopic (A,B) and electron microscopic (C,D) findings of muscle biopsy from the left biceps of this patient. (A) Haematoxylin and eosin staining. There were many atrophic changes and intrafibral vacuoles. bar=10 µm. (B) Routine ATPase reaction. Predominance of the type II fibre as well as many vacuoles in the fibres. bar=10 µm. (C) Subperimysial and intermyofibrillar clefts composed of amorphous matrix material were found in muscle fibres. Myofibrils showed thinning and interruption. bar=4 µm. (D) There were intermyofibrillar clefts, containing numerous small granules and enlarged mitochondria with normal cristae. bar=1 µm. 830 J Neurol Neurosurg Psychiatry 1999;67 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from and sensory nerve conduction velocities were 1 Rotruck JT, Pope AL, Ganther HE, et al. the area of communication (cut oV level of 8), normal. Selenium: biochemical role as a component of but she scored 6 in the areas of qualitative glutathione peroxidase. Science 1973;179:588– The biopsied muscle from her left biceps 9. impairments in reciprocal social interaction seemed pale. Histological studies showed 2 Lannek N, Lindberg P. Vitamin E and selenium (cut oV of 10), and 0 in repetitive behaviours severe atrophy of all muscle fibres examined, deficiencies (VESD) of domestic animals. Adv and stereotyped patterns (cut oV of 3). Social Vet Sci Comp Med 1975;19:127. and imitative play seemed inadequate, but no type II fibre predominance, increased ex- 3 Keshan disease research group. Observations on tramyofibrillar fluid without fibrosis, and eVect of sodium selenite in prevention of Kes- language abnormalities such as echolalia, many vacuoles in the myofibrils (figure A, B). han disease. Chin Med J (Engl) 1979;92:471–6. neologisms, or pronominal reversal were The vacuoles were unstained by oil red O, 4 Van Rij AM, Thomson CD, McKenzie JM, et al. present. Her social interactions were recipro- Selenium deficiency in total parenteral nutri- cal although she usually only smiled at her periodic acid ShiV, or acid phosphatase, and tion. Am J Clin Nutr 1979;32:2076–85. were made up of subperimysial and intermy- 5 Mansell PI, Rawlings F, Allison SP, et al. parents, did not have easy peer relationships, ofibrillar clefts consisting of amorphous Reversal of a skeletal myopathy with selenium and directed no language towards the hospi- supplementation in a patient on home tal staV. However, she was able to engage in matrix material seen by electron microscopy. parenteral nutrition. Clin Nutr 1987;6:179–83. Myofibrillar architecture was destroyed and good eye contact. Clumsy attempts to associated with loss and thinning of myofi- interact with other children where made by brils. Some mitochondria were enlarged in , speech delay, the patient when she was not directly size, but neither abnormal cristae nor inclu- dysmorphisms, and deletion of the short observed by medical stuV. sions were seen (figure C, D). These clefts arm of chromosome 18: a distinct The patient was also evaluated by the Wechsler intelligence scale for children which and destroyed architecture of myofibrils entity? would be caused by the intermyofibrillar and showed a performance IQ of 79, and verbal intramyofibrillar focal oedema that might be Elective (or selective) mutism is a rare IQ of 70. Biochemical tests for aminoacidopathies, induced by unmetabolised hydroperoxides. psychiatric disorder. Diagnostic criteria in 1 2 mucopolysaccharidosis, and lysosomal disor- Within several days after a simple change both ICD-10 and DSM-IV include: (a) ders were normal, as was selective screening from total parenteral nutrition to oral diet consistent failure to speak in specific social for organic acidaemias. An isoelectric focus- alone, without selenium supplementation, situations in which there is an expectation for ing test for sialotransferrine was normal. her muscle pain gradually improved. The speaking (for example, at school) despite Molecular tests for fragile X syndrome were serum creatine kinase concentration gradu- speaking in other situations (for example, at home); (b) the disturbance interferes with negative. Brain MRI examination, EEG ally decreased and was normal in a month. recording, and audiometric tests were nor- Two months later, she was able to walk alone educational or occupational achievement or with social communication; (c) it is not better mal. Karyotype analysis of blood cells showed and stand up from a chair. The concentra- an abnormal chromosomal pattern with dele- tions of serum selenium and glutathione per- accounted for by a communication disorder or by a lack of knowledge of the spoken lan- tion of the short arm of chromosome 18, oxidase tended to improve with oral diet 46XX, del(18), p(11.1) in all metaphases alone. guage required in the social situation; (d)it has a duration of at least 1 month.3 examined. Karyotype analysis was normal in Selenium is relatively abundant in meat, It typically starts at preschool age, is more her parents. fish, and cereals, but there is very little in total common in girls, and is seen in all social Simons et al recently reported the first parenteral nutrition or liquid formula diets. A strata with shyness, withdrawal, sensitivity or patient aVected by elective mutism associated patient nourished by total parenteral nutri- with deletion of the short arm of chromo-

resistance, and internalising behaviour prob- copyright. tion alone for a long period may risk selenium lems as the most common personality some 18, del (18), p (11.1).3 Their patient depletion, so selenium supplementation is features. had had developmental abnormalities but recommended. In 1979 Van Rij et al reported We followed up a 7.5 year old girl who was these could not account for her social a patient with a perforated small intestine the third child from non-consanguineous communication disorders, and peculiar dys- showing skeletal myopathy during month parents. She was born normally at 37 weeks morphisms were present.We also had the long parenteral nutrition.4 Since then, there of an uneventful pregnancy, with a birth opportunity to study a girl aVected by elective have been about 20 cases of selenium weight of 3,5 kg, length 47 cm, and head cir- mutism in whom karyotype analysis showed deficiency during total parenteral nutrition in cumference 34.5 cm. The American pediatric an identical deletion of the chromosome 18. the literature worldwide, but most cases gross assessment record was 9 at 5 minutes. Speech delay, facial dysmorphisms such as received total parenteral nutrition because of Family history was non-contributory. There flattened nasal bridge, broad philtrum, and the surgery for intestinal diseases or inflam- was neither family history of psychiatric micrognathia were the main clinical findings. matory bowel diseases. As far as we know, illness nor of language abnormalities. Auxological indices were in the low average there is no report dealing with a patient with Developmental milestones were normal; range; particularly, skull circumference was anorexia nervosa accompanied by selenium she acquired head control at the 3rd month of on the 10th percentile. No familiar trait of http://jnnp.bmj.com/ deficiency, although total parenteral nutrition life, sat at 7 months, and walked at 13 microcephaly was present in her family, and is a popular method to ameliorate the months. On the other hand, she presented short stature appeared when the height of nutritional state in severely emaciated pa- speech delay as she used single words mean- our patient was compared with the midpar- tients with anorexia nervosa. The phenotypic ingfully as late as 24 months and was able to ental height (data not shown). Psychological diVerence for manifestation of either skeletal pronounce her first phrases at 3 years. Behav- testing showed verbal skills and performance myopathy or cardiomyopathy is not under- ioural anomalies were first registered by her in the low range (table). We compared our stood at present. The living environment, the parents between 3 and 4 years, when they patient with the one reported by Simons et al 3 selenium content of the whole body, and the noted a reluctance to speak in front of other (table). With the exception of the round level of other antioxidants such as vitamin E, people. By the age of 4, she used to speak face, not seen in our patient, clinical findings on September 27, 2021 by guest. Protected seem to influence one another. regularly only to one her friends, and she did of both patients overlapped. Moreover, both Sudden death occurs occasionally in pa- not talk to nursery staV or to other children. patients had speech delay, a similar tients with anorexia nervosa because of At home, she normally spoke to her parents neuropsychological profile, and the same and her sister but would not speak to them in 18 chromosome abnormality. All these find- arrhythmia and heart failure. Because sele- front of others. ings allow us to hypothesise that the nium deficiency can cause cardiomyopathy She first came under our care at the age of association of such signs is not by chance and and sudden death, we should carefully moni- 6 years. Physical examination showed a it may be indicative of a distinct clinical tor for selenium deficiency in anorexia pattern of facial dysmorphisms involving flat- entity. nervosa, especially in patients on long term tened nasal bridge, short upper lip, broad Elective mutism is most probably a total parenteral nutrition. philtrum, everted lower lip, and microg- heterogeneous syndrome and several aetio- HIROYUKI ISHIHARA nathia. Short and broad fingers were also logical factors such as minimal brain dys- FUMIO KANDA noted. Muscular tone and deep tendon function, somatic or , TATSUO MATSUSHITA reflexes were normal. No abnormal pyrami- particularly during speech development, and KAZUO CHIHARA dal, extrapyramidal, or cerebellar signs were a particular family structure especially the Third Division, Department of Medicine, Kobe present. She had no dyspraxia. Her height mother-child relationship, have been sug- University School of Medicine, 7–5–1 Kusunoki-cho, was below the 10th percentile, weight on the gested. As a consequence clinical features are Chuo-ku, Kobe 650–0017, Japan 15th percentile, and head circumference on variable and speech delay and dysmorphisms KYOKO ITOH the 10th percentile. can be found in a subgroup of patients only.6 First Department of Pathology The diagnostic interview,45admin- Moreover, in most patients elective mutism Correspondence to: Dr Hiroyuki Ishihara istered by her mother, showed a score of 9 in is a transient disorder as it usually disappears J Neurol Neurosurg Psychiatry 1999;67 831 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from

Comparison of clinical findings of the patients 8 Ghaziuddin M, Sheldon LY, Alessi T, et al. Beyond this, malingering of cognitive Abnormalities of chromosome 18 in a girl with dysfunction seems to be a particular problem mental retardation and autistic disorder. J Our Patient reported in some countries. In The Netherlands, some 3 Intellect Disabil Res 1993;37:313–17. Clinical findings patient by Simons et al 9 Gillberg C. Chromosomal disorders and au- 25% of those patients reporting such symp- tism. J Autism Dev Disord 1998;28:415–25. Head circumference 10th 3rd toms months to years after the accident may percentile percentile be malingering. Malingering (as detected by Height 10th 25th testing) was twice as common in litigants percentile percentile than non-litigants.2 Weight 15th 3rd Radanov et al are thus contributing to the percentile percentile eVort in closing one chapter of the whiplash Speech delay Yes Yes controversy. Clinicians can now be more Performance IQ 79 84 CORRESPONDENCE Verbal IQ 70 71 confident in relating to their patients that Round face No Yes their cognitive dysfunction is due to various Flattened nasal bridge Yes Yes reversible factors, rather than brain injury or Short upper lip Yes Yes other ominous diagnoses. Indeed, a re- Broad philtrum Yes Yes Relation between neuropsychological education of this sort, and the biopsychoso- Everted lower lip Yes Yes cial (non-dichotomous) approach Radanov et Micrognathia Yes Yes and neuroimaging findings in patients Short broad fingers Yes Yes with late whiplash syndrome al suggest is the cornerstone of more effective approaches towards the prevention of the late 78 Radanov et al1 are to be commended on their whiplash syndrome. in a few months. By contrast, in our patient as recent publication considering, in part, the R FERRARI well as in the one reported by Simons , et al issue of “brain injury” as a basis for cognitive 12779–50 Street, Edmonton, Alberta, elective mutism appears as a chronic disorder dysfunction in the late whiplash syndrome. Canada T5A 4L8. and it has been aVecting our patient for about There are a few limitations of the study. The Telephone 001 780 990 8310; 4 years. Therefore, we think that in a first is the small sample size. A second is that, fax 001 780 473 3529; subgroup of patients elective mutism is related unlike previous studies from Switzerland in a email [email protected] to a genetic background. This hypothesis is non-tort system, the subjects of this recent further corroborated by the study of Stein- study are mostly litigants. When examining 1 Radanov BP, Bicick I, Dvorak J, et al. Relation hausen et al, who pointed out that genetic fac- for correlation between diagnostic tests and between neuropsychological and neuroimaging tors play a part in the aetiology of selective findings in patients with late whiplash syn- symptoms, malingering detection eVorts, as drome. mutism, as they found that disorders of 2 J Neurol Neurosurg Psychiatry used in other studies, may be required. This 1999;66:485–9. speech, language, and psychiatric illness were is now a confounding variable. Yet, despite 2 Schmand B, Lindeboom J, Schagen S, et al. more common in the relatives of aVected than these concerns, this study is an important and Cognitive complaints in patients after whiplash 7 injury: the impact of malingering. J Neurol in the control groups. valid eVort. Deletion of the short arm of chromosome Neurosurg Psychiatry 1998;64:339–43. Although it can never be proved that there 3 Radanov BP, Dvorak J. Impaired cognitive func- 18 has also been associated with several phe- is no brain injury in whiplash patients, it must tioning after whiplash injury of the cervical notypic expressions, mental retardation, and be realised that in both science (medicine in spine. Spine 1996;21:392–7. autism.89 However, in our patient diagnosis 4 Radanov BP, Begré S, Sturzenegger M, et al.

particular) and the law, there is an obligation copyright. of elective mutism was firmly made as autism Course of psychological variables in whiplash to deal in probabilities. Clinicians routinely injury-a2-yearfollow-upwithage, gender, or connected pervasive developmental disor- make treatment decisions based on the most and education pair-matched patients. Pain der were ruled out because of social disorders 1996;64:429–34. likely diagnosis and current evidence, not which were highly specific and situational. 5 Ferrari R, Russell AS. Development of persist- because of absolute proof. Radanov et al have ent neurological symptoms in patients with In conclusion, we confirm that the relation given clinicians and the legal community, simple neck sprain. Arthritis Care Res 1999;12: between elective mutism and deletion of the 70–6. through this and previous studies,34 an short arm of the chromosome 18 is not by 6 Lees-Haley PR, Brown RS. Neuropsychological opportunity to appreciate the more highly chance, and think that their association with complaint base rates of 170 personal injury probable sources of cognitive symptoms in claimants. Arch Clin Neuropsychol 1993;8:203–9. developmental disorders and dysmorphisms, whiplash patients. These alternative explana- 7 Ferrari R. The whiplash encyclopedia. The facts occurring in these patients, may delineate a and myths of whiplash. Gaithersburg, Maryland: tions other than brain injury sources are not specific clinical entity. Aspen,1999. only more benign (non-pathological), but are 8 Ferrari R, Kwan O, Russell AS, et al. The best SALVATORE GROSSO more amenable to specific interventions and approach to the problem of whiplash? One MADDALENA CIONI 5 ticket to Lithuania, please. Clin Exp Rheum prevention altogether. 1999;17:321–6. LUCIA PUCCI In whiplash patients, these symptoms are http://jnnp.bmj.com/ GUIDO MORGESE correlated with the pain experience, various PAOLO BALESTRI causes for psychological distress, and medica- Radanov et al reply: Istituto di Clinica Pediatrica, Via M Bracci, Le Scotte, 1 University of Siena, 53100 Siena, Italy tions (although medications are not impli- On the basis of our article, which may be cated in the patients in the current study).3–5 interpreted as indicating that there is no Correspondence to: Dr Salvatore Grosso, Istituto di Clinica Pediatrica, Via M Bracci, Le Scotte, Uni- The cognitive symptoms seem to also im- brain injury after whiplash, Ferrari focuses 34 versity of Siena, 53100 Siena, Italy. Telephone 0039 prove as the patient’s pain improves. on malingering as an alternative explanation 0577 586540; fax 0039 0577 586143; email: Furthermore, the distress of litigation as a for the cognitive problems of whiplash [email protected] factor is noted. In the cohort of Radanov et patients. This perhaps is a biased view and is 1

al, 85% were in litigation. Lees-Haley and in contrast with Ferrari’s statement that “the on September 27, 2021 by guest. Protected 6 1 World Health Organization. The IDC-10 classifi- Brown studied 170 personal injury litigants, biopsychosocial (non-dichotomous) ap- cation of mental and behavioural disorders: clinical in whom the litigation was not related to a proach” to the problem may be required in descriptions and diagnostic guidelines. Geneva: physical injury, but rather to issues of sex, these patients. The following points seem World Health Organization, 1992. race, or age discrimination, verbal harass- important: (1) It should be considered that 2 American Psychiatric Association. Diagnostic 2 and statistical manual of mental disorders—DSM- ment at work, wrongful termination, etc. there were results outside the context of liti- IV,4th ed. Washington, DC: APA, 1994. Although the patients were not filing a claim gation which suggest that overall there was 3 Simons A, Goode S, Fombonne E. Elective for neuropsychological impairment, they an improvement of cognitive functions (for mutism and chromosome 18 abnormality. Eur Child Adolesc Psychiatry 1997;6:112–14. have a similar prevalence of cognitive and example, attention) in whiplash patients 4 Le Couteur A, Rutter M, Lord C, et al. Autism other neurological complaints as those who within the first months of injury. However, diagnostic interview: a semistructured inter- litigate for what is commonly referred to as there was a relapse in cognitive functioning view for parents and caregivers of autistic per- mild traumatic brain injury. These research- in long term patients,2 which could be sons. J Autism Dev Disord 1989;19:363–87. 5 Lord C, Rutter M, Le Couteur A. Autism diag- ers also showed that the base rates of these explained neither by brain damage nor by nostic interview-revised: a revised version of a complaints is actually high in the otherwise, litigation. Data rather suggested that this diagnostic interview for caregivers of individu- healthy population. In many cases, claimants relapse may be due to symptoms (mainly als with possible pervasive developmental disor- 2 2 ders. J Autism Dev Disord 1994;24:659–85. are likely amplifying and misattributing their pain), adverse eVects of medication, or 6 Wilkins R. A comparison of elective mutism and symptoms to the accident, when they relate symptoms related to change in psychological emotional disorders. Br J Psychiatry 1985;146: instead to pre-existing conditions, the functioning.3 Comparable results were found 198–203. of litigation, unrelated illnesses, malingering, in additional studies45 where litigation is 7 Steinhausen HC, Adamek R. The family history of children with elective mutism. Eur Child inspiration of hysteria by prior medical-legal unlikely to have played an important role. In Adolesc Psychiatry 1997;6:107–11. evaluations, or influence of third parties.6 this research45 similar problems in cognitive 832 J Neurol Neurosurg Psychiatry 1999;67 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from performance were found in patients who had 6 Jacobs A, Put E, Ingles M, et al. Prospective zyme A reductase inhibitors (statins) in pre- had mild traumatic brain injury or only an evaluation of technetium-99m-HMPAO venting stroke and TIA in patients with SPECT in mild and moderate traumatic brain injury to other parts of the body. Interest- injury. J Nucl Med 1994;35:942–7. established vascular disease. These are a ingly, in patients with more severe injuries to 7 Bicik I, Radanov BP, Schäfer N, et al. PET with novel group of compounds which lower other parts of the body4 a higher impairment 18fruorodeoxyglucose and hexamethypropylene serum cholesterol, and which have been in cognitive functioning was found. These amine oxime SPECT in late whiplash syn- shown to lower mortality in large ran- drome. Neurology 1998;51:345–50. results may suggest that experience of symp- domised controlled clinical trials in second- toms (for example, pain) and the process of ary prevention in patients with known adjustment to the symptoms (for example, Secondary prevention after cerebral vascular disease, both with and without worry about achieving the pretraumatic level ischaemia of presumed arterial origin: hypercholesterolaemia, and in primary pre- of functioning) may contribute to psycho- is aspirin still the touchstone vention in those with hypercholesterolaemia logical changes as shown previously.3 Based without clinical vascular disease.23 In addi- on these changes, of which the prolonged I agree that, for secondary prevention of tion, these trials have demonstrated that experience of impaired wellbeing may be ischaemic stroke, alternatives to aspirin have to statins reduce the risk of stroke by about crucial, an inability for eVort may follow, be identified,1 not only because the scope for 30% in patients with coronary artery eventually leading to subtle problems in cog- aspirin related therapeutic benefit is limited by disease.45As well as reducing serum choles- nitive functioning. Assuming a dichotomous the fact that aspirin blocks only one of at least terol, statins have been shown in various perspective with focus on malingering as the eight potential pathways for activation of models to have a broad range of beneficial only basis for symptoms may certainly lead platelet aggregation,2 but also because some eVects on vascular pathophysiology, includ- to an additional change in patients’ illness patients, initially responsive to the inhibitory ing plaque stabilisation, and direct vasodila- behaviour including an exaggeration of aVect of aspirin on platelet aggregation, subse- tatory, antithrombotic, and antiplatelet 56 symptoms in some cases. Considering these quently escape from this eVect,3 with conse- eVects. Some of these drugs are currently issues may help to develop a therapeutic quent risk of recurrence of ischaemic stroke. being tested in clinical trials in patients with approach which should allow patients to Glycoprotein IIb/IIIa receptor blockers might a history of minor stroke or TIA. As statins adjust better to their problems and improve superficially seem to be the final solution to do not exert their beneficial eVects primarily recovery. Previous results generally indicate a this problem, as they block the final common through antiplatelet mechanisms, the possi- lack of morphological brain damage after pathway of platelet aggregation, but enthusi- bility that a statin combined with aspirin (or whiplash or mild traumatic brain injury.16 asm for their use should be tempered by the clopidogrel or both) could provide additive However, functional brain damage, whatever acknowledgement that acute profound throm- therapeutic eVects is exciting and needs to be the cause, cannot be fully excluded7 and fur- bocytopaenia (platelet count< 20 000/mm3) tested in patients with or at risk of cerebrov- ther research may provide some additional may be an occasional side eVect,2 with the ascular disease. As usual the neurological insights. For example, using SPECT, short consequence (at least in theory) of clinically community lags behind their cardiology col- term disturbance to prefrontal structures was significant intracranial haemorrhage in elderly leagues in managing their cerebrovascular found in patients with mild traumatic brain patients who have ischaemic stroke coexisting share of the systemic disease of the endothe- injury,6 which probably indicated some sort with the type of small vessel disease predispos- lium known as atherosclerosis. of impaired functioning. Such a functional ing to silent intracerebral microhaemor- NORMAN DELANTY impairment may introduce a cascade of 4 rhages, or coexisting with cerebral amyloid Department of Neurology, University of Pennsylvania, additional problems eventually contributing angiopathy, itself a risk factor for intracranial 3 West Gates, 3400 Spruce Street, Philadelphia, PA to a vicious circle on which basis the haemorrhage.5 19104, USA copyright. previously shown symptom augmentation may follow.2 This has to be prevented. OMPJOLOBE Department of Medicine for the Elderly, Tameside 1 Algra A, van Gijn J, Koudstaal PJ. Secondary Blaming patients for malingering is hardly General Hospital, Fountain Street, Ashton under Lyne prevention after cerebral ischemia of presumed the most appropriate approach and does OL6 9RW,UK arterial origin: is aspirin still the touchstone? J not have anything to do with a non- Neurol Neurosurg Psychiatry 1999;66:557–9. dichotomous perspective of illness behav- 2 Sacks FM, PfeVer MA, Moye LA, et al, for the 1 Algra A, van Gijn J, Koudstall PJ . Secondary Cholesterol and Recurrent Events Trial Inves- iour. prevention after cerebral ischaemia of pre- tigators. The eVect of pravastatin on coronary sumed arterial origin: is aspirin still the touch- events after myocardial infarction in patients B P RADANOV stone. J Neurol Neurosurg Psychiatry 1999;66: with average cholesterol levels. N Engl J Med Department of Psychiatry, University of Berne, 557–9. 1996;335:1001–9. Inselspital, Murtenstrasse 21, CH-3010, 2 Vorchheimer DA, Badimon JJ, Fuster V. Platelet 3 The Long-Term Intervention with Parvastatin Berne, Switzerland glycoprotein IIb/IIIa receptor antagonists in in Ischemic Disease (LIPID) Study Group. cardiovascular disease. JAMA 1999;281:1407– Prevention of cardiovascular events and death I BICIK 14. with pravastatin in patients with coronary heart

G K VON SCHULTHESS 3 Hegalson CM, Bolin KM, HoV JA, et al. Devel- disease and a broad range of initial cholesterol http://jnnp.bmj.com/ A BUCK opment of aspirin resistance in persons with levels. N Engl J Med 1998;339:1349–57. Division of Nuclear Medicine, University Hospital previous ischaemic stroke. Stroke 1994;25: 4 Blauw GJ, Lagaay AM, Smelt AHM, et al. 2331–6. Zeurich, CH-8091, Zeurich, Switzerland Stroke, statins, and cholesterol. A meta- 4 Kwa VIH, Franke CL, Verbeeten B, et al. Silent analysis of randomized, placebo-controlled, J DVORAK intracerebral microhaemorrhages in patients double-blind trials with HMG-CoA reductase Department of Neurology, Wilhelm Schulthess with ischaemic stroke. Ann Neurol 1998;44: inhibitors. Stroke 1997;28:946–50. 372–7. Hospital, Lengghalde 2, CH-8008, Zeurich, 5 Delanty N, Vaughan CJ. Vascular eVects of stat- 5 Gilbert JJ, Vinters HV. Cerebral amyloid ins in stroke. Stroke 1997;28:2315–20. Switzerland angiopathy: incidence and complications in the 6 Vaughan CJ, Murphy MB, Buckley BM. Statins J ANTINNES aging brain, I: cerebral haemorrhage. Stroke do more than just lower cholesterol. Lancet 1983;14:915–23. Department of Orthopedic Surgery, Ochsner 1996;348:1079–82. Foundation Hospital, 1516 JeVerson Highway, on September 27, 2021 by guest. Protected New Orleans, Louisiana 70121, USA. Secondary prevention after cerebral The authors reply: ischaemia of presumed arterial origin: Speculation about the results of ongoing 1 Radanov BP, Bicik I, Dvorak J, et al. Relation between neuropsychological and neuroimaging is aspirin still the touchstone? trials was not really the purpose of our review, findings in patients with late whiplash syn- but we agree we might have included the use drome. J Neurol Neurosurg Psychiatry In a recent editorial, Algra et al summarise of statins in patients with cerebrovascular 1999;66:485–9. the current state of knowledge of drug treat- disease. We note that Delanty has a poor 2 Radanov BP, Sturzenegger M, Di Stefano G. Long-term outcome after whiplash injury: a ment in secondary prevention after ischae- opinion of the neurovascular research com- two year follow-up considering features of acci- mic stroke or transient ischaemic attack munity. We shall have to live with it. dent mechanism, somatic, radiological and (TIA).1 After a review of aspirin, ticlodipine, psychosocial findings. Medicine 1995;74:281– clopidogrel, and anticoagulation with warfa- A ALGRA 97. J VAN GIJN 3 Radanov BP, Begré S, Sturzenegger M, et al. rin, and a critical discussion of recent Course of psychological variables in whiplash relevant clinical trials, they speculate that Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands injury: a two-year follow-up with age, gender antagonists of the platelet fibrinogen recep- and education pair-matched patients. Pain A ALGRA 1996;63:429–34. tor, glycoprotein 11b/111a, may also have a 4 Dikmen SS, Ross BL, Machamer JE, et al. One preventive role in cerebrovascular disease in Julius Center for Patient Oriented Research, University year psychosocial outcome in head injury. JInt the near future and they indicate that clinical Medical Center Utrecht, Utrecht, The Netherlands Neuropsychol Soc 1995;1:67–77. trials are planned. Unfortunately, the au- 5 Iverson GL, McCracken LM. Postconcussive A P J KOUDSTAAL symptoms in persons with chronic pain. Brain thors fail to mention the promise of Department of Neurology, University Hospital Inj 1997;11:783–90. â-hydroxy-â-methylglutary (HMG) coen- Rotterdam Dijkzigt, Rotterdam, The Netherlands J Neurol Neurosurg Psychiatry 1999;67 833 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from

Prospective, population based studies of 3 Egger M, Schneider M, Davey Smith G. Spuri- 7 Politzer A. Die anatomische und histologische ous precision? Meta-analysis of observational Zergliederung des menschlichen Gehörorgans. cavernous malformations are needed studies. BMJ 1998;316:140–4. Stuttgart: Enke, 1889. 4 Brown RD Jr, Wiebers DO, Torner JC, et al. 8 Politzer A. Geschichte der Ohrenheilkunde. In their welcome systematic review of su- Incidence and prevalence of intracranial vascu- Stuttgart: Enke, 1907 Band I, 1913 Band II. pratentorial cavernous malformations and lar malformations in Olmsted County, Minne- 9 Politzer A. Die Beleuchtigungsbilder des Trommel- 1 sota, 1965–1992. Neurology 1996;46:949–52. fells im gesunden und kranken Zustande. Wien: epilepsy, Moran et al illustrate the pitfalls of 5 Rigamonti D, Drayer BP, Johnson PC, et al. The Braunmüller, 1865. regarding the prognosis of a disease in MRI appearance of cavernous malformations 10 Politzer A. Atlas der Beleuchtigungsbilder des selected case series as representative of its (angiomas). J Neurosurg 1987;67:518–24. Trommelfells im gesunden und kranken Zustande. natural history.2 Studies of cavernous malfor- Wien: Braunmüller, 1896. mation prognosis have usually lacked clear Neurological stamp: Adam Politzer inception cohorts with respect to mode of presentation and treatment. Referral filter (1835–1920) bias has so often restricted ascertainment by tertiary referral centres, and further selection Recently, I found an interesting manuscript BOOK REVIEWS bias has made the prognosis seem worse than in your journal about Adam Politzer under it really is, as demonstrated by the authors’ the section on neurological stamps. I was own series of 33 patients in which temporal mildly disappointed by the presence of some lobe lesion location and intractable seizures inaccuracies concerning the biography of predominated. Conversely, by leaving com- Adam Politzer, and write to you to correct these imprecisions. Mononeuropathies: Examination, Diagnosis munity mortality unaccounted for, the prog- and Treatment by A STAAL, J VAN GIJN, and F Adam Politzer published in 1878 the first nosis can seem better than it actually is. SPAANS (pp 243, £35.00). Published by W B Completeness of follow up has been variable volume of his textbook of otology under the Saunders, London, 1999. and not always prospective. Furthermore, original German title Lehrbuch der Ohren- authors have varied in their choice of heilkunde für praktische Ärzte und Studierende. The authors say that they wrote this book from The second volume was published in 1882 to a frustration at having to look at several diVer- outcome, in particular their definition of 1 haemorrhage (clinical or radiological), choice complete his work. Since the second edition, ent sources to solve a single clinical problem. of period at risk (from birth, time of diagno- this textbook of otology was printed in one The introductory chapters contain sound sis, or start of observation) and calculation of volume. clinical advice on a general approach to outcomes for each patient or for each lesion. The finding that ossicles vibrate to sound patients with mononeuropathy. Then each Any analyses of such heterogeneous case stimuli was not made by Politzer but by Her- nerve is dealt with in turn using the same for- series should be ruthlessly systematic, but mann von Helmholtz with his resonance mat: anatomy; history; examination— even so it is necessary to be wary about draw- theory published in 1863 completed by the including the method of examination of the mechanism of ossicles and tympanic mem- ing firm conclusions from them.3 relevant muscles and the area of sensory brane in 1868.2 Politzer was one of his The only existing population based study loss—electrophysiological findings; diVeren- students in 1861 in Heidelberg. of cavernous malformations,4 albeit with a tial diagnosis; causes, often tabulated; and Adam Politzer invented, notably, a revolu- denominator of merely 50 000, was retro- finally treatment. The line drawings of the tionary method to make the eustachian tube spective. The study spanned fundamental anatomy are clear, highlighting sites of com- permeable in 1863,3 developments in the non-invasive diagnosis of a method which made pression. The line drawings of power testing cavernous malformations during the 1980s him famous and carries his name. He also are less satisfactory. The movement to be copyright. developed an acoumeter in 18774 to measure with magnetic resonance imaging,5 which led tested is well illustrated but the site of the to increasing detection rates with time. hearing, replacing the watch, which was used muscle being tested (and hopefully observed) There is, therefore, clearly a need for a until this date. is not shown and for some muscles lies outside large, population based, prospective, contem- In 1864 Politzer founded with Anton von the illustration. This is followed by some porary epidemiological survey of cavernous Tröltsch and Hermann Schwartze the first chapters discussing causes of peripheral nerve malformations to establish their frequency German and international journal of otology injury other than focal lesions, including and prognosis. With a broad collaborative under the original title Archiv für metabolic and physical factors and tumours. Ohrenheilkunde.5 In 1879 The American Jour- The description of the clinical syndromes is network, including the three other neuro- 6 science centres in Scotland, the Scottish nal of Otology was founded and edited by clear and succinct and well referenced Intracranial Vascular Malformation Study Clarence J Blake and was printed for only 4 throughout. The advice on treatment is sensi- (SIVMS) has been set up (http:// years at this time. ble with a strong emphasis towards conserva- www.dcn.ed.ac.uk/ivm/) to do just this for all In addition to more than 100 publications tive management with clear statements as to types of intracranial vascular malformation in medical journals, and besides his textbook when more rapid intervention is needed. http://jnnp.bmj.com/ (IVM). Using multiple, overlapping sources of otology, Adam Politzer published three The text is interspersed with illustrative cases of case ascertainment we are building an other books, all translated into English. As which appear in boxes. I thought this worked inception cohort of all incident cases of any well as one book about anatomical and histo- well, although was surprised to find eight doc- logical dissection of the human ear7 and one tors (including a Professor of Neurology with a type of IVM diagnosed after 1 January 1999 8 in the population of Scotland (5.1 million). about the history of otology. Politzer pub- partial musculocutaneous nerve lesion, and a lished an atlas of the tympanic membrane in Dean of the Faculty of Medicine with neural- With prolonged follow up of this cohort we 9 10 hope to settle some of the uncertainties high- 1865, completed and reprinted in 1896. gic amyotrophy), among the 40 or so cases. Politzer was certainly the greatest otologist lighted by Moran et al.1 Moreover we agree While for mononeuropathies the book of the 19th century and probably one of the that, with such poor data available, a manages to act as a single point of reference it

greatest of all time. His influence during 50 on September 27, 2021 by guest. Protected randomised controlled trial of surgical versus does not do this for some similar clinical years of otology has never been equalled. conservative treatment for cavernous malfor- problems whose presentations may be simi- mations is overdue. ALBERT MUDRY lar. It only briefly touches on radiculopathies ENT Department, University Hospital, Av. de la Gare as they appear in the diVerential diagnosis of RUSTAM AL-SHAHI 6 CH-1003 Lausanne, Switzerland mononeuropathies and skirts round some CHARLES P WARLOW email: [email protected] contentious issues such as the thoracic outlet Department of Clinical Neurosciences, Western General syndrome. The anatomy of the brachial Hospital, Crewe Road, Edinburgh EH4 2XU, UK plexus (something I always have to look up) is Correspondence to: Dr Rustam Al-Shahi, MRC 1 Politzer A. Lehrbuch der Ohrenheilkunde für prak- tische Ärtze und Studierende. Stuttgart: Enke, not reproduced. Clinical Training Fellow, Department of Clinical 1878 Band I, 1882 Band II. Overall I think the authors have succeeded Neurosciences, Bramwell Dott Building, Western 2 von Helmholtz H. Mechanik der Ge- General Hospital, Crewe Road, Edinburgh EH4 hörknöchelchen und des Trommelfells. in their objectives and there is indeed justifi- 2XU email [email protected] Monatsschr Ohrenheil 1868;2:159–64. cation for this book. The book is moderately 3 Politzer A. Ueber ein neues Heilverfahren gegen priced at less than half the price of the com- Schwerhörigkeit, infolge von Unwegsamkeit bined costs two of the books they aim to 1 Moran NF, Fish DR, Kitchen N, et al. der Eustachischen Ohrtrompete. Wien Med Supratentorial cavernous haemangiomas and Wochenschr 1863;6:83–90,102–4. replace. epilepsy: a review of the literature and case 4 Politzer A. Ueber einen einheitlichen Hörmesser. I would suggest that most neurology units series. J Neurol Neurosurg Psychiatry Archiv für Ohrenheilkunde 1877;12:104–9. should get a copy. I would urge you to 1999;66:561–8. 5 Poliker A, van Troeltsch A, Schwartze H. Archiv persuade your orthopaedic colleagues to get 2 Sackett DL, Haynes RB, Guyatt GH, et al. für Ohrenheilkunde. Würzburg: Stahel. Erster Clinical epidemiology. A basic science for clinical Band, 1864. one too. medicine. 2nd ed. Boston: Little, Brown, 6 Blake C J. The American Journal of Otology. Vol I. 1991:173–85. New York: Wood. 1879. GN FULLER 834 J Neurol Neurosurg Psychiatry 1999;67 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.67.6.832a on 1 December 1999. Downloaded from

Cell Transplantation for Neurological ful. However, that having been said, this is a mutations of the nicotinic acetyl choline Disorders. Edited by THOMAS B FREEMAN clear and readable account. It is suitable as an receptor. Even here the clinical expression of and HAKAN WIDNER. (Pp 350, US$125). introduction to various aspects of neural cell the same mutation may vary from a self lim- Published by Humana Press, New Jersey. therapies, and is an essential handbook for iting period of seizures to refractory noctur- anyone working in the field. nal epilepsy with dozens of seizures each ISBN 0-896-03449-6. night. Other genetic epilepsy syndromes have ANNE ROSSER been described recently; familial temporal This book deals, in general, with issues perti- lobe epilepsy and epilepsy with variable foci. nent to the clinical application of cell MRI has allowed the in vivo classification transplantation approaches, and has been Genetics of Focal Epilepsies. Edited by S of subtle cortical dysplasias as well as more written by many eminent members of both F BERKOVIC, P GENTON, E HIRSCH, and F PICARD. gross disorders such as tuberose sclerosis, the American and European transplant com- (Pp 286, £59.00). Published by John Libbey whose genetic bases are becoming clear. Sub- munities, the editors also being well respected and Co, London, 1999. ISBN 0 86196 569 8. cortical band heterotopia or periventricular figures in this field. It covers neuronal cell nodular heterotopia, are seen only in females transplantation therapies in its many forms, Are we on the verge of molecular Armaged- and have been shown to be X linked and fatal and although almost half relates to primary don, to be ravaged by the onslaught of giant, in males. human foetal tissue transplants in Parkin- genetically modified, giant tomatoes? Are we How do genetic abnormalities produce son’s and Huntington’s disease, this does in entering a molecular Utopia, where all the epilepsy and what is the cause of the clinical fact reflect the balance of eVort over the past world’s ills will be solved with a golden key to heterogeneity? Here there are only questions. decade and a half. Of particular value are the a nucleotide code or at the gateway of a Abnormalities of regulatory homeobox genes summaries of data emerging from ongoing eugenic ? As far as epilepsy is con- may reproduce some aspects of cortical clinical trials of transplantation in both cerned, a central message of this book is that dysplasia and have been identified in humans conditions, as much of this data are to be clinical heterogeneity is the rule—the genes too. The nicotinic acetylcholine receptor may found in the literature in a rather piecemeal are only part of the story. Those of us with a be involved in development, cortical excita- fashion. Prospects for transplantation in deep suspicion (acquired not innate) of tion, or the regulation of the thalamocortical other neurological conditions are also dis- genetic models of life the universe and every- sleep wake cycle—but all is speculation at this cussed, in particular multiple sclerosis and thing, can breathe a sigh of relief. stage. Animal models may demonstrate stroke. Alternative donor tissue to human There are substantial methodological changes in anatomy and chemistry and trans- foetal cells is discussed largely with reference problems in genetic studies of epilepsy. It is a genic animal models may be valuable in to the use of xenogeneic cells, both trans- paroxysmal disorder, with age dependent exploring pathophysiology. Genetics is pro- planted directly and also transplanted in their expression, no diagnostic test, and frequent viding a gateway to pathophysiology but the encapsulated form after genetic modification, misdiagnosis. A tribute to workers in the field clinical heterogeneity even in the most the latter having already being piloted clini- is that progress has been made despite these genetically uniform disorders suggests that cally, particularly for use in chronic pain syn- diYculties. Several early chapters consider these processes will not easily be revealed by dromes. The potential of using cell lines is benign childhood epilepsy with centrotempo- simply understanding the genes. The rel- mentioned in passing, but stem cell therapies ral spikes. The characteristic EEG distur- evance of the rarer genetic syndromes to (namely neuronal and embryonic stem cells) bance of this condition is probably inherited commoner forms of epilepsy remains to be are not explicitly discussed, which is perhaps in autosomal dominant fashion, but only established. Targets for novel therapies are something of a hole given the likely reliance about 10% of siblings have epilepsy and they still a long way oV. copyright. of transplantation therapy long term on the may have many diVerent clinical varieties of This book provides a clear account of many development of alternative sources of donor epilepsy. Indeed there seems to be an associ- genetically determined, focal epilepsies, a tissue. The book ends with a single chapter ation between this benign partial epilepsy and balanced view of their genetic components, on the ethics of using human foetal tissue. idiopathic generalised epilepsy, blurring the and clinical and scientific methods for their This has been written very much from an classic divisions of epilepsy classification. future exploration. It will be of interest American perspective and as this is such a Autosomal dominant nocturnal frontal primarily to epilepsy specialists and geneti- central issue for much of the ongoing work, a lobe epilepsy is genetically and clinically rela- cists. more balanced account would have been use- tively well defined and is sometimes due to MARK MANFORD http://jnnp.bmj.com/ on September 27, 2021 by guest. Protected