Letters 89 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.53.1.89-a on 1 January 1990. Downloaded from This case illustrates how Chiari malforma- as Ramsay Hunt syndrome. Review and 1 Radermecker J. Epilepsy in the degenerative tions may present at any age and should be restudy of this material established the diseases. In: Vinken PJ, Bruyn GW (eds). diag- Handbook of Clinical Neurology, vol 15. considered even in septuagenerians. The nosis of mitochondrial encephalomyopathy Amsterdam: North Holland, 1974:325-72. onset of symptoms in the eighth decade is (MERRF) in 11 ofthe 13 cases; the remaining 2 Berkovic SF, Andermann F, Carpenter S, Wolfe extremely unusual, but presentation at the two cases were not available for reexamin- LS. Progressive myoclonus epilepsies: age of 74 has specific causes and diagnosis. N Engl J Med been reported in one case.' ation.'" Those who wish to preserve the 1986;315:296-305. Symptoms may precede diagnosis by several Ramsay Hunt syndrome differ widely in their 3 Berkovic SF, Andermann F, Karpati G et al. years,' as in this patient. However, it is concept of the disorder,67 which only reinfor- Mitochondrial encephalomyopathies: a solu- unclear why a congenital malformation ces our view that the term should be buried. tion to the enigma of the Ramsay Hunt syndrome. Neurology 1987;37 (suppl):125. should suddenly become symptomatic. Tassinari et al recently reported a series of 4 Andermann F, Berkovic S, Carpenter S, Ander- Several reports have highlighted the role of 13 patients with "Ramsay Hunt syndrome" mann E. The Ramsay Hunt syndrome is no trauma,4 degenerative changes in the cervical who had onset of myoclonic or tonic-clonic longer a useful diagnostic entity. Movement spine and cerebrovascular disease that may Disorders 1989;4:13-17. seizures at ages 6 to 15 years with a mild 5 Berkovic SF, Carpenter S, Evans A, et al. also contribute to neurological deterioration. cerebellar syndrome. Family studies sug- Myoclonus epilepsy and ragged-red fibers Palatal paresis, dysphagia, diplopia and gested autosomal recessive inheritance and (MERRF): a clinical, pathological, bio- ataxia are well recognised symptoms oftype 1 muscle biopsies failed to show evidence of chemical, magnetic resonance spectroscopic and positron emission tomographic study. Arnold-Chiari malformations,' 2 and recent mitochondrial disease.7 Tassinari's patients Brain 1989;112:1231-60. reports have highlighted the respiratory are different from the cases that we reclas- 6 Marsden CD, Obeso JA. The Ramsay Hunt problems that these patients may encoun- sified as MERRF and we agree that they do Syndrome is a useful clinical entity. ter."6 The presence of downbeat nystagmus Movement Disorders 1989;4:6-12. not have mitochondrial disease. The clinical, 7 Tassinari CA, Michelucci R, Genton P, Pellis- strongly implied an abnormality at the cran- electroencephalographic and genetic features sier JF, Roger J. Dyssynergia cerebellaris iocervical junction and this was confirmed, of their patients are, however, identical to myoclonica (Ramsay Hunt syndrome): a non-invasively, by MR imaging. those of Unverricht-Lundborg disease (Bal- condition unrelated to mitochondrial encephalomyopathies. J Neurol Neurosurg Despite their ages both our patient and the tic myoclonus) as described by the original Psychiat, 1989;52:262-5. one reported by Hosford and Spector' made a authors and more recently in the definitive 8 Koshiniemi M, Donner M, Majuri H, Haltia M, good recovery following surgical decompres- studies of Koskiniemi."' There is no doubt Norio R. Progressive myoclonus epilepsy: a sion showing that age alone should not be clinical and histopathological study. Acta that this disorder occurs outside the Baltic Neurol Sand 1974;50:307-32. regarded as a barrier to active management. region.241' Although there is as yet no diag- 9 Norio R, Koskiniemi M. Progressive myoclonus DMG HALPIN, nostic laboratory marker for Unverricht- epilepsy: genetic and nosological aspects with P TREND, Lundborg disease, the clinical picture is dis- special reference to 107 Finnish patients. Clin L SYMON*, Genet 1979;15:382-98. AE HARDING tinctive and a clinical diagnosis can be made 10 Koskiniemi ML. Baltic myoclonus. Adv Neurol University Department of Clinical Neurology with considerable certainty.2 " We find the 1986:57-64. and the Gough Cooper Department use ofthe term "Ramsay Hunt syndrome" for 11 Eldridge R, Iivanainen M, Stern R, Koerber T, ofNeurological Surgery,* such patients is historically inaccurate Wilder BJ. "Baltic" myoclonus epilepsy: National Hospitalfor Nervous Diseases, and hereditary disorder of childhood made worse Queen Square, London WCIN 3BG, diagnostically misleading. by phenytoin. Lancet 1983;i:838-42. United Kingdom Tassinari et al have emphasised the 12 Koskiniemi M, Toivakka E, Donner M. electroencephalographic features of their Progressive myoclonus epilepsy: electroence- 1 Mohr PD, Strang FA, Sambrook MA, Boddie phalographic findings. Acta Neurol Scand HG. The clinical and surgical features in 40 patients with normal or mildly slow waking 1 974;50:333-59. patients with primary cerebellar ectopia (adult background activity, fast spike-wave dischar- 13 So N, Berkovic SF, Andermann F, Kuzniecky Chiari malformation). Q J Med 1977;46: ges, photosensitivity and lack of activation R, Gendron D, Quesney LF. Myoclonus 85-96. during slow wave sleep.' These epilepsy and ragged-red fibers (MERRF). 2 Paul KS, Lye RH, Strang FA, Dutton J. findings are Electrophysiological studies and comparison Arnold-Chiari malformation. Review of 71 no different from those of Unverricht- with the other progressive myoclonus epilep- cases. JNeurosurg 1983;58:183-7. Lundborg disease.'" Indeed, critical study of sies. Brain 1989;112:1261-76. 3 Hosford DA. Spector RH. Arnold-Chiari the EEG patterns in all the PMEs, including 14 Tassinari CA, Bureau-Paillas M, Dalla Bernar- malformation in a geriatric patient. South dina B, Grasso E, Roger J. Etude electro- Med J 1985;78:618-21. MERRF and Unverricht-Lundborg disease, encephalographique de la dyssynergie 4 Spillane JD, Pallis C, Jones AM. Developmental reveals more similarities than differences." cerebelleuse myoclonique avec epilepsie abnormalities in the region of the foramen Tassinari et al, have also described vertex (syndrome de Ramsav Hunt). Rev Electroen- magnum. Brain 1957;80:11-48. spikes during REM sleep.7' cephalogr Neurophysiol Clin 1974;4:407-28. 5 Fish DR, Howard RS, Wiles CM, Symon L. Unfortunately, 15 Roger J, Pellissier JF, Dravet C et al. REM studies of Unverricht-Lundborg dis- Degeneres- Respiratory arrest: a complication of cence spino-cerebelleuse-atrophie optique- http://jnnp.bmj.com/ cerebellar ectopia in adults. J Neurol ease have not been reported. These spikes are, epilepsie-myoclonies-myopathie mitochon- Neurosurg Psychiatri, 1988;51 :714-6. however, also seen in MERRF' and we driale. Ret Neurol (Paris) 1982;138: 6 Bullock R, Todd NV, Easton J, Hadley D. 187-200. Isolated central respiratory failure due to suspect they may be common to all the PMEs, syringomyelia and Arnold-Chiari malforma- much like giant evoked potentials, which they tion. Br Med J 1988;297:1448-9. may in fact represent. Unlike the situation previously, the vast Tassinlari et al reply: majority of patients with PME can now be We thank Drs Berkovic and Andermann for accurately diagnosed during life.2 Whilst the kind comments they made on our recent paper.' We are glad to know that the patients occasional undiagnosed patients remain, on September 25, 2021 by guest. Protected copyright. there is no residual homogeneous group of previously referred to as Ramsay Hunt cases for which the term Ramsay Hunt syndrome (RHS) by these authors and sub- syndrome is appropriate. Radermecker's sequently found to have a mitochondrial MATTERS frustration at attempting to define the encephalopathy (MERRF) were significantly different from those we have described under Ramsay Hunt syndrome' can at last be put to the ARI SING rest. In retrospect it was a true syndrome, eponym of RHS. This fact supports our with many causes, although we suspect that statement that RHS and MERRF exhibit most reported cases were probably examples different clinical, EEG and evolutive of MERRF. Its value as a features. Ramsay Hunt syndrome: to bury or to clinical category Drs Berkovic and Andermann has been overtaken by clinical, genetic, bio- however praise criticise the term RHS applied to our cases. chemical and pathological advances in In specific diagnosis.- these patients the main clinical complaint "If there is onte disease i.n the neurological was action myoclonus combined with rare literature that is difficult to define and generalised epileptic seizures: indeed this denmarcate, it is the cerebellar dyssynergia of association was described by Ramsay Hunt Ranmsay Hunt." Radermecker, 1974.' (We) come to bury ., not to praise . under the heading of "Dyssynergia Cerebellaris Myoclonica"?. Ramsay Hunt Our recent suggestion that the Ramsay Hunt SAMUEL F BERKOVIC*t also emphasised the coexistence of syndrome (dyssynergia cerebellaris myoclon- FREDERICK ANDERMANNt- "cerebellar ataxia" but, in such cases, the ica) is no longer a useful diagnostic category2-5 *Departnment of Neurology, cerebellar component is difficult to define has provoked considerable controversy.> We Atustin Hospital, Melbourne, because of the presence of severe intention reached this conclusion following a study of Victoria 3084, Australia. myoclonus, as --Montreal Neurological Institute and recently pointed out by 84 cases of progressive myoclonus epilepsy Hospital, Montreal, Quebec H3A 2B4, Harding.' Thus, in our opinion, the use of (PME), of which 13 were previously regarded Canada. the term RHS for our patients is justified, 90 Matters arising J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.53.1.89-a on 1 January 1990. Downloaded from

particularly if one keeps in mind that this is a with the viral, bacterial, fungal and protozoal more clearly recognised and described in the syndrome and not a disease and that other infections seen in AIDS. The final section is current literature. In 1982 in the first edition diagnosable conditions were excluded. on the use of diagnostic laboratories. of "Autonomic Failure", Sir Roger Bannister In the paper' we emphasised that our cases This structure has unfortunately led to suggested that the protean symptoms of had homogeneous genetic, clinical and neuro- frequent repetition. The epidemiology and autonomic failure would lead patients physiological features, which suggested a clinical features of infections appear in both towards specialists in many disciplines, for distinct "disease entity", admittedly of un- the second and third sections ofthe book. The example the cardiologist, the neurologist, the known aetiology. If we had to "bury" the classification of HIV infection appears in general physician, and since many of the eponym RHS, we should find another term to both section 1 and 2. The laboratory features disorders occur late in life, the geriatrician. It designate our patients: given the geographic of opportunistic infections appear in sections was the editor's aim at the time to provide a origin of these cases, one such term could be 2, 3 and 4. There are some problems of book which would guide all these specialists "Mediterranean Myoclonus", admittedly balance. In section 2 the nervous system, to an understanding of the many problems similar to "Baltic Myoclonus".4" Following skin, mouth and paediatric patients are all when the autonomic nervous system failed. the same criteria, other seaside myoclonic dealt with in separate chapters. The other The first edition was very well received and syndromes are likely to come. systems, gastro-intestinal, respiratory, car- now the second edition appears in paper back CA TASSINARI,* diovascular, endocrine and renal are all dis- aimed at providing a comprehensive scientific R MICHELUCCI,* cussed in a single chapter. This chapter is basis for the diagnosis and treatment of the P GENTON,t further crowded by the author's uncertainty wide range of autonomic disorders which are JF PELLISSIER,+ with J ROGERt as to whether he is addressing the diagnosis of being recognised increasing frequency. Neurological Clinic,* HIV infection in general medical patients or Sir Roger edits what is now a multi-author University of Bologna School of Medicine, HIV volume with contributions from some 30 new Bologna, Italy, the diagnosis of complications in infec- Centre Saint-Paul,t ted patients. In section 3 rarer infections, authors of whom 14 are from countries out- (11(1 Laboraiory- 01o Veutropothlologyl such as the endemic mycoses, are also given side the UK. The many advances in the basic SctOol of M('edicilo, space disproportionate to their importance. science of autonomic transmission are con- .loWrseille, France The delay between writing and publication sidered and special attention is given to recent (there are occasional references from 1988) is progress in peptide chemistry and immuno- less of a problem than might be expected in cytochemical staining. 1 Tassinari CA, Michelucci R, Genton P, Pellissier JF, Roger J. Dyssynergia this fast moving field. Examples of new In an introductory chapter the editor cerebellaris myoclonica (Ramsay Hunt syn- developments would be the use offluconazole outlines the problems of autonomic failure, drome): a condition unrelated to mitochon- in cryptococcal meningitis or of desaturation classifies the disease processes responsible for drial encephalomyopathies. J Neurol Neurosurg Psychiatry 1989;52:262-5. or immunofluorescence in the diagnosis of the disintegration of the system and summar- 2 Hunt JR. Dyssynergia cerebellaris Pneumocystis carinii pneumonia. More frus- ises the new techniques used in the investiga- myoclonica-primary atrophy of the dentate trating, however, is the reliance on abstracts tion of such patients. The embryology, the system: a contribution to the pathology and AIDS rather than basic anatomy and physiology of the auto- symptomatology of the cerebellum. Brain from conferences, pub- 1921;44:490-538. lished sources, as references. nomic system are described in great detail 3 Harding AE. Ramsay Hunt syndrome, This book is designed to be a practical with chapters devoted to the influence of the Unverricht-Lundborg disease, or what? guide to the management of opportunistic autonomic system on cardiovascular func- Movement Disorders 1989;4:18-9. tion, blood pressure regulation, heart rhythm 4 Koskiniemi M, Donner M, Majuri H, Haltia M, infections in AIDS. There are however some Norio R. Progressive myoclonus epilepsy: inconsistencies. For example there is a long and cardiac function. clinical and histopathological study. Acta chapter on the epidemiology of HIV infec- The second part of the book, which is of Neurol Scand 1974;50:307-32. tions and a chapter on acute HIV infection main interest to the clinician, is devoted to the 5 Koskiniemi M, Toivakka E, Donner M. Progressive myoclonus epilepsy: electroence- but not on other complications attributed to clinical and pathophysiological features of phalographic findings. Acta Neurol Scand HIV itself. The book has also excluded some autonomic failure. The lead chapter by the 1974;50:333-59. areas which are of indirect interest in the editor is followed by a succession of essays on diagnosis and management of opportunistic the investigation of the various disorders, infections. For example the use of zidovudine their clinical phenomena and the man- as an adjunct in opportunistic infections, the agement of symptoms. A large section is place of visceral Kaposi's sarcoma, lym- devoted to the clinical phenomena of diabetic HIV itself in the differential autonomic neuropathy. It would seem that phoma and http://jnnp.bmj.com/ diagnoses of opportunistic infections. This nothing has been excluded from this very raises the question of the validity of the comprehensive essay. separation of the management of opportunis- This book must remain the outstanding tic infections from that ofother complications contribution to neurology's study of the of HIV infection, particularly when some autonomic nervous system. Not only is it up BOOK "non-infective" complications, such as to date, it is accurate, well edited and will Kaposi's sarcoma or lymphoma may be provide a useful reference source for any REVIEWS related to various viral infections. clinician who suspects that his patients have

Each chapter in this well produced book autonomic neurological problems. I feel the on September 25, 2021 by guest. Protected copyright. provides a good introduction to its subject by essays are uniformly consistent and therefore an in the field. The would select no particular author for men- Infections in Patients authority neurological Opportunistic chapter is good, though neurologists would tion. This reflects upon the overall com- with the Acquired Immunodeficiency petence of the editing. Each essay is followed Syndrome. (Infectious Disease and find it brief and prefer the book "AIDS and the Nervous System" edited by the same by a comprehensive list ofreferences, some as Therapy Series 3). Edited by: GIFFORD S authors. However the whole is less than the recent as 1987, suggesting that the book, LEOUNG AND JOHN MILLS. (Pp 476; Illustrated; sum of its parts. It is expensive and published in 1988, certainly does discuss Price: $89.75 (US and Canada) £68.00). New truly recent advances. York: Marcel Dekker Inc. 1989. individuals or cash restricted libraries want- ing an introduction to AIDS would be better JB FOSTER "Opportunistic infection in patients with the advised to buy one of the more comprehen- acquired immunodeficiency syndrome" is the sive texts on the subject which are now latest in the infectious disease and therapy available. GERAINT FULLER series from Marcel Dekker. The stated aim of Clinical Neurology. By D CHADWICK, N E F this book is to provide a practical approach to CARTLIDGE AND D BATES. (Pp 544; Illustra- the management of opportunistic infections tions: 243; £24.95). Edinburgh, Churchill in HIV infected patients. The good response Autonomic Failure: A Textbook of Clin- Livingstone, 1989. to appropriate treatment of some infections is ical Disorders of the Autonomic stressed. It is a multi-author book principally Nervous System 2nd edition. Edited by Sir This new textbook seeks to emphasize the from the San Francisco group. Roger Bannister (Pp 783; £30.00). Oxford: importance of neurology in general medicine The book is divided into four sections. The Oxford University Press, 1988. and to provide a practical approach to diag- first deals with the epidemiology and immun- nosis and treatment for general physicians, ology ofHIV infection. The second section is In the late seventies the problems created by a MRCP candidates and neurologists in train- on patient assessment. The third section deals failure of the autonomic nervous system were ing. Set against the mass of recent texts on