624 Letters to the editor

ALD has shown diffuse lesions in the cerebral

white matter including the pyramidal tract, J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.53.7.624 on 1 July 1990. Downloaded from and the auditory and visual pathways."6 Areas of abnormal intensity in the internal capsule have been reported in adrenomyeloneuro- pathy." Thus, ALD presenting as SCD and classic type ALD differ in extent of lesions though the basic abnormality in lipid metabolism is common to both. The lesions in the cerebellar white matter and the pyramidal tracts may be responsible for the symptoms in this patient which CT failed to detect. A common CT finding in ALD presenting as SCD is atrophy of the brain stem and the cerebellum, which is indistinguishable from that in SCD.7 In SCD, however, MRI abnormality suggesting the existence of demyelination as seen in this patient, has not been reported. Thus patients with cerebellar ataxia should be examined with MRI for the possibility of ALD. We thank Dr Ryoko Koike, Department of Neurology, Brain Research Institute, Niigata University, for measuring very long-chain fatty acids in plasma sphingomyelin fraction from the patient. I MIYAI H FUJIMURA T UMEKAGE K WATASE S UENO S YORIFUJI M TAKAHASHI* S TARUI adrenoleukodystrophy presenting as spino- spastic and ataxic and he could not walk The Second Department of Internal Medicine, Osaka University Medical School cerebellar degeneration from spinocerebellar without support. His total IQ on Wechsler Department ofNeurology,* degeneration. adult intelligence scale was 76. Kinki University Medical School, Adrenoleukodystrophy (ALD) is a sex- The following laboratory data were normal Osaka, Japan linked recessive, peroxisomal disorder that or negative: full blood picture, electrolytes, Correspondence to: Ichiro Miyai, Second causes diffuse demyelination of the central liver function, kidney function, plasma Department of Internal Medicine, Osaka nervous system. ALD presenting as spino- glucose, creatine kinase, serological tests for University Medical School, 1-1-50, Fukushima, cerebellar degeneration (SCD), a variant syphilis, tests for SLE, anti-HIV antibody, Fukushima-ku, Osaka 553, Japan. form of ALD, has been recognised.' The anti-HTLV-I antibody, lymphocytes 1 Bewermeyer H, Bamborschke S, Ebhardt G, brain computed tomography (CT) finding lysosomal enzyme activities including beta- Hunermann B, Heiss WD. MR imaging in most commonly seen in this form of ALD is galactosidase, beta-hexosaminidase and aryl- adrenoleukomyelonueuropathy. J Comput atrophy of the brain stem and the sulfatase A. Fasting plasma ACTH was Assist Tomogr 1985;9:793-6. cerebellum.7 However, MRI has not 81 pg/ml (normal less than 65 pg/ml) while 2 Komori T, Nagashima T, Hirose K, Tanabe H, Tsubaki T. Adrenomyeloneuropathy as- previously been reported. cortisol was normal. Serum cortisol response sociated with congenital cataracts-report ofa A 29 year old man was admitted to our to ACTH (rapid ACTH test) showed a low family with MRI study. Clin Neurol 1988; because of disturbance. His response pattern. was 28:532-5. hospital gait Cerebrospinal fluid http://jnnp.bmj.com/ parents were not His mother normal except for a raised 3 Kumar AJ, Rosenbaum AE, Naidu S, et al. consanguineous. protein (61 mg/dl). Adrenoleukodystrophy correlating MR imag- was asymptomatic though neurological Very long-chain fatty acids in plasma sphin- ing with CT. Radiology 1987;165:497-504. examination revealed mild spasticity of both gomyelin fraction were considerably in- 4 Kuroda S, Hirano A, Yuasa S. Adrenoleukodys- legs. At age 26, the patient complained of creased, that is C24:0/C22:0 was 1 171 trophy-cerebello-brainstem dominant case. Acta Neuropathol 1983;60:149-52. dysarthria and gait disturbance, and these [normal (SD), 0 735 (0-131)], C25:0/C22:0, 5 Marsden CD, Obeso JA, Lang AE. Adreno- symptoms were slowly progressive. Im- 0 0380 [0-0143 (0 0039)], C26:0/C22:0, leukomyeloneuropathy presenting as spino- potency, incontinence, and weight loss 0 0199 [0 0057 (0-0017)]. Brain CT showed cerebellar degeneration. Neurology 1982;32: developed. atrophy ofthe cerebellum and the brain stem. 1031-2. 6 Nishio H, Kodama S, Tsubota T, Takahashi T, He was euphoric and mildly pigmented. MRI revealed abnormal intensity areas in Yokoyama S, Matsuo T. Adrenoleukody- on October 2, 2021 by guest. Protected copyright. Neurological examination revealed slow both corona radiata, internal capsules, strophy without adrenal insufficiency and its slurred speech, considerably increased deep cerebral peduncles and white matter around magnetic resonance imaging. J Neurol 1985; 232:265-70. tendon reflexes, extensor plantar responses the dentate nuclei of the cerebellum (fig 1) in 7 Ohno T, Tsuchida H, Fukuhara N, et al. and, ataxia ofall limbs. His gait was markedly addition to atrophy of the cerebellum and the Adrenoleukodystrophy: a clinical variant brain stem (fig 2). presenting as olivopontocerebellar atrophy. for ALD J Neurol 1984;231:167-9. Pathological findings presenting 8 Schamburg HH, Powers JM, Raine CS, Suzuki as SCD include diffuse demyelination of the K, Richardson, Jr EP. Adrenoleukodys- cerebellar white matter and the brain stem trophy. A clinical and pathological study of 17 involving the internal capsule, corpus cases. Arch Neurol 1975;32:577-91. 9 Takada K, Onoda K, Takahashi K, Nakamura callosum and optic nerves.4 Marked loss of H, Taketomi T. An adult case of adreno- Purkinje cells and neurons of the dentate leukodystrophy with features of olivo-ponto- nuclei, and lesions in superior cerebellar cerebellar atrophy: I. Clinical and patho- peduncles have also been reported.9 In this logical studies. Japan J Exp Med 1987;57: patient, MRI clearly showed lesions in the 53-8. pyramidal tracts and cerebellar white matter adjacent to the dentate nuclei, consistent with the clinical findings. The cerebellar lesions seen in this patient also shows one of the Myasthenia gravis and thymoma in common pathological findings in the classic multiple endocrine neoplasia (MEN-1) type of ALD, because a discrete lesion syndrome involving the cerebellar white matter adjacent to the dentate nucleus was reported in five of Multiple endocrine neoplasia (MEN-type 1) 17 necropsy cases.' MRI in the classic type or Werner's syndrome is characterised by the Letters to the editor 625

of neoplasms or hyperplasia involv- repeated postoperative examinaton his cal- 6 Palmer FJ, Sawyers TM. Hyperparathyroidism, presence and

chemodectoma, thymoma myasthenia J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.53.7.624 on 1 July 1990. Downloaded from ing endocrine glands. The organs most often cium, phosphate, insulin level and insulin/ gravis. Arch Intern Med 1978;138:1402-3. affected are the parathyroids, pancreatic islets glucose ratio had normal values, the 7 Arya S, Gilbert EF, Hong R, Bloodworth Jr and pituitary gland.' Occasionally neoplasms antibodies to acetylcholine receptors were GMB. The thymus. In: Bloodworth Jr GMB, of the thymus gland have been reported in reduced to 24 nM; anti- striated muscle ed. Endocrine Pathology. 2nd ed. Baltimore: this syndrome.2' Myasthenia gravis is antibodies were still positive. Nine months Williams and Wilkins, 1982:801. frequently associated with thymic hyper- later he was considerably improved taking plasia and approximately 10-15% of the pyridostigmine 60 mg four times daily, and patients have a thymic tumour.' Our patient bromocriptine 2-5 mg twice daily. presenting with rnyasthenia gravis had a This case represents the combination of thymoma and characteristic features of myasthenia gravis, a benign thymoma, hyper- MEN-I syndrome. parathyroidism and a pituitary tumour, A previously healthy 28 year old male was probably a prolactinoma. The coexistence of admitted to hospital with a six weeks history hyperparathyroidism and a pituitary tumour of progressive speech disturbance, problems is characteristic of MEN-1 syndrome. The with mastication and nasal regurgitation, foll- evolution of this syndrome may take years owed by diplopia. There was a progression of and it is inherited as an autosomal dominant MATTERS symptoms during the day and after exertion trait with a very high degree of penetrance.' and reduction after rest. There was no weak- The mother of our patient also had hyper- ARI SING ness in the extremities. He suffered from parathyroidism. Less common findings nocturnal dyspnoea. Micturition and sexual reported in patients with MEN-I syndrome functions were normal. There were no symp- included lipoma, carcinoid tumours, thymic toms ofhypoglycaemia. The patient's mother tumours and pinealoma.' The neoplasms of had been operated on in the past because of thymic origin mainly concern carcinoid Korsakoffs psychosis in the presence of hyperparathyroidism. tumours with a relatively poor prognosis.'4 multiple sclerosis: an unusual cognitive Physical examination showed a slightly None of these cases had myasthenia gravis. state overweight man (height 1-72 m, weight Only one other patient has been described 85 kg) with little facial hair. Internal inves- with the combination of myasthenia gravis, After the publication of our letter in your tigations including the genital organs were thymoma and hyperparathyroidism; a journal,' some inaccuracies were brought to normal. Neurological investigation revealed sporadicformefruste ofthe MEN-1 syndrome our attention by Professor E K Warrington in slight dysarthria, bilateral ptosis, facial weak- was suggested by the author.6 Moreover, our whose department the patient was tested. ness and paresis ofabduction and elevation of patient had a pituitary tumour which The difference between the WAIS IQ and both eyes. These symptoms fluctuated, underlines the diagnosis of MEN-I syn- the estimated premorbid IQ (NART) depending on the degree of exertion. Leg drome. The insulin level and insulin/glucose indicates a decline in the performance on raising was possible for 45 seconds, no other ratio were slightly elevated, these values, non-verbal tests rather than general intellec- limb muscle weakness was present. Deep however, did not prove to be a pancreatic islet tual ability as stated in the article. A score of tendon reflexes were normal. The functional tumour. Perhaps the thymoma was responsi- 19/30 in the McKenna and Warrington capacity of the lungs by spirometry was ble for this disturbance as the tumour cells Graded Naming Test is within the average within normal limits. reacted positively with antibodies to insulin range and not indicative of nominal dys- Laboratory investigations demonstrated and the value returned to normal post- phasia. The statement: "in both Korsakoffs serum calcium level of 3-19 mmol/l; phos- operatively. syndrome and multiple sclerosis verbal IQs phate 0-84 mmol/l; chloride 101 4 mmol/l; The importance of this remarkable finding decline more than performance IQs ..." is chloride/phosphate ratio 102 mol/mol (N: is not clear, but cell surface receptors for some erroneous and it would be correct to say that less than 103 mol/mol); parathyroid hormone polypeptide hormones have been mentioned the performance IQ is more likely to level of 11-7 pmol/l (N: less than 5 pmol/l); in thymoma cells.' This reaction was negative deteriorate. prolactin 4-68 U/l (N: less than 0 3 U/l); in five other thymomas that we have inves- Finally, although not an inaccuracy, the glucose 4 4 mmol)l; insulin 29 1U/l (N: 5- tigated in recent years. The association of Camden Memory Tests quoted in the letter 25 1U/l); insulin/glucose ratio 10 (N: less tumours of the thymic and parathyroid gland are still in the process ofdevelopment and low

than 9); serum gastrin and glucagon were is not surprising as these structures have a scores should be interpreted as corroborating http://jnnp.bmj.com/ normal, as 5HIAA in daily urinary excretion. common embryonic origin from the third poor performance on the standard memory Circulating antibodies to acetylcholine recep- pharyngeal pouch. tests. These corrections in no way detract tors were elevated 97 nM (N: less than 2 nM). LJHM VROEGINDEWEIJ-CLAESSENS from the conclusions of our letter and we feel Anti-striated muscle antibodies were CC TIJSSEN that it is worth highlighting the need to search Department ofNeurology, positive. There was a normal EMG pattern of GJM CREEMERS for other pathologies in patients with alcohol the abductor digiti quinti muscle after JHM LOCKEFEER related brain damage if their clinical presen- repetitive (3 Hz) and tetanic (20 Hz) stimula- Department of Internal Medicine tation is in anyway unusual. chloride JLJM TEEPEN MARIA A RON tion. Edrophonium (Tensilon) Department ofPathology, 10 resulted in a ANTHONY FEINSTEIN on October 2, 2021 by guest. Protected copyright. mg given intravenously St Elisabeth Hospital, Tilburg, The National Hospitalfor Nervous Diseases, marked temporary improvement of signs and The Netherlands Queen Square, symptoms. Computerised tomography (CT) London WCIN 3BG, United Kingdom Correspondence to: LJHM Vroegindeweij, Depart- of the thorax revealed a large dense, partly ment of Neurology, St Elisabeth Hospital, cystic, anterior mediastinal mass. CT of the PO Box 90151, 5000 LC Tilburg, The Nether- 1 Ron MA, Feinstein A. Korsakoffs psychosis in sella turcica showed a pituitary tumour. On lands. the presence of multiple sclerosis: an unusual echocardiography and CT ofthe abdomen no cognitive state. J Neurol Neurosurg Psychiatry tumour of the pancreatic islets was seen. 1989;52:540. The patient had a median sternotomy. A mediastinal tumour (12-5 x 8 x 3 cm) was completely excised. Microscopically the clas- features of a 1 Lips CJM, Vasen HFA, Lamers CBHW. Multi- sic histological benign thymoma ple endocrine neoplasia syndromes. CRC Crit were present with both epithelial and lym- Rev Oncol Hematol 1984;2:117-84. phoid cells without argentaffinity or mitoses. 2 Floros D, Dosios TH, Tsourdis A, Yiatroman- The tumour cells stained positively with olakis N. Carcinoid tumor of thymus with multiple endocrine adenomatosis. Path Res cytokeratin and antibodies to insulin, no Pract 1982;175:404-9. Magnetic resonance imaging in patients other endocrinological activity could be 3 Rosai J, Higa E, Davie J. Mediastinal endocrine with progressive myelopathy following demonstrated. Furthermore, a parathyroid neoplasms in patients with multiple endocrine spinal surgery was x 0-5 x 0-5 adenomatosis. A previously unrecognised adenoma removed (1-5 cm) association. Cancer 1972;29:1075-83. in the same session, the other parathyroid 4 Manes JH, Taylor HB. Thymic carcinoid in The explanation by Mr Adams' of the post- glands were normal. The patient made a slow familial multiple endocrine adenomatosis. operative myelopathy with a biomechanical recovery from thymectomy; some days he Arch Pathol 1973;95:252-5. mechanism producing postoperative traction 5 Oosterhuis HJGH. Myasthenia gravis. A required intubation and mechanical ventila- survey. Clin Neurol Neurosurg 1981;83: ofthe dura and the spinal cord during cervical tion because of respiratory insufficiency. On 105-36. movements is an adjunct to our paper,' in