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Home , Apocrine, Lafora disease

10848Journal of , Neurosurgery, and Psychiatry 1992;55:1084-1085 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.55.11.1084 on 1 November 1992. Downloaded from SHORT REPORT

Diagnosis by axilla skin biopsy in an early case of Lafora's disease

G Rubio, C Garcia Guijo, J J Mallada, A Cabello, A Garcia Merino

Abstract showed a score of 30 points. Laboratory , and progressive findings were unremarkable. EEG showed are the main clinical features in slow waves, multiple diffuse spikes, polyspikes, Lafora's disease. This is the first reported and spike-wave discharges with a slow back- case in which the diagnosis has been made ground. CT and MRI scans were normal. by axillary skin biopsy in a patient with Light microscopy of an axilla skin biopsy myoclonus but no other neurological showed PAS-positive and diastase-resistant symptoms. intracellular located in the basal side of the apocrine acini with a striking (7 Neurol Neurosurg Psychiatry 1992;55: 1084-1085) predominance of the inclusions in the myoepi- thelial cells in relation to secretory cells (approximately 5:1) (fig 1). Electron micros- Lafora's disease is a rare autosomal recessive copy demonstrated round to oval intracyto- disorder, the presumed metabolic defect of plasmic inclusions near the nucleus of both the which is unknown. Clinical manifestations are apocrine myoepithelial cells and the apocrine seizures, myoclonus, and progressive demen- secretory cells (fig 2). tia. Diagnosis must be established by demon- Therapy with valproic acid (600 mg/d) was stration of Lafora's inclusion bodies in the started and myoclonus disappeared. Three biopsy. Carpenter and Karpati' reported in months later, myoclonic jerks returned and 1981 the diagnostic value of skin biopsy in absence seizures appeared, requiring an Lafora's disease; since then, the diagnostic use increase in dose. Some days later, she com- of this biopsy has been confirmed by other plained of paroxysmal visual . authors.29 The role of skin biopsy in early Consciousness was not impaired and there stages of the disease, when patients have not were no automatisms. A new EEG showed very yet developed mental deterioration, has not frequent high amplitude bilateral paroxysmal been proved. discharges with a 2-4 Hz spike-wave and We report a young girl with myoclonus polyspike pattern. These discharges were affecting the upper limbs and head, and no accompanied by generalised myoclonic jerks. evidence of dementia, who was diagnosed with Photic stimulation provoked 3-Hz polyspike-

Lafora's disease by skin biopsy. waves and the patient presented myoclonus http://jnnp.bmj.com/ involving muscles of the trunk. Background activity was dominated by 4-5 Hz waves. One Case report year later the patient developed gradually poor A 13 year old girl had been in good health until school performance and progressive deteriora- two years earlier, when she developed occa- tion of her Mini Mental State score fell to sional myoclonic jerks of the upper limbs and 21. the head. In the preceding three weeks, the frequency of myoclonus had considerably on September 24, 2021 by guest. Protected copyright. Department of increased. There were no seizures or mental Discussion Neurology, Clinica deterioration. Her school performance was In the proper clinical setting, the presence of Puerta de Hierro, normal. Madrid, Spain Family history showed three siblings Lafora's bodies confirms the diagnosis of G Rubio who had died from Lafora's disease. Cerebral Lafora's disease. Detection of Lafora bodies C Garcia Guijo biopsy confirmed the diagnosis in one of them. themselves, however, is not diagnostic. Similar J J Mallada A relative of her mother had seizures and three A Garcia Merino polyglucosan inclusions can be seen in normal others were mentally retarded. There was no ageing (corpora amylacea), double , Department of Neuropathology, parental consanguinity. some instances of amyotrophic lateral sclerosis, Hospital 12 de General examination showed no abnor- type IV storage disease, and in a Octubre, Madrid, malities. Myoclonic jerks, confined to the head group of patients with progressive lower and Spain A Cabello and neck muscles and to the upper limbs, were upper motor deficits, marked sensory seen on neurological examination. Correspondence to: Alertness, loss of the lower extremities, neurogenic blad- Dr Rubio Esteban, Avda. de orientation, mood, behaviour and attention der, and dementia.78 10 Only in type IV glyco- la Bajamar 36 3° A, 11500 were El Puerto de Sta Maria, all normal. Tests for recent and remote genosis is the cause of the accumulation of Cadiz, Spain memory, serial subtraction, and abstract rea- polyglucosan bodies known. Received 26 April 1991 soning gave normal results. Language, reading Skin biopsy specimens to confirm the diag- and in final revised form were 20 January 1992. and writing also normal. There was no nosis of Lafora's disease have been obtained Accepted 30 January 1992 apraxia. A Mini Mental State examination from the calf, forearm, back and axilla. Axillary Diagnosis by axilla skin biopsy in an early case of Lafora's disease 1085 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.55.11.1084 on 1 November 1992. Downloaded from *.W* .*w :''~~basal side of the cells of the eccrine sweat ducts. Since other -*? then, authors have des- cribed it in the cells ofthe apocrine - J~ ducts8 13 and in the acinar cells of the apocrine sweat with a predominance of the inclusions in the myoepithelial cells.5 8 In the PAS-reaction these inclusions could be distin- guished easily from the normally abundant PAS-positive secretory material by a far more intense lilac-purple staining.5 Lafora's bodies are not described in normal subjects, in other pathological states, or in other forms of myoclonus ; in the appropriate clinical context therefore they may be considered specific for Lafora's disease. Skin biopsy seems to be the most reliable and least aggressive method for demonstrating the presence of Lafora's disease. The PAS-positive inclusion-bodies are sufficiently characteristic to permit diagnosis with light microscopy alone. However, if the nature of the bodies .,Sjgs_B-P}__. ._ S.~~~~~~~~~~~~~~W. seen on light microscopy is uncertain, a second study by electron microscopy is recommended. Figure Axillary skin (PAS-diastase x 400). Oval periodic If the PAS-stained sections are elec- acid-Schiff (PAS)-positive inclusion bodies are present in the basal side of the acini negative, (arrows) with predominance of the inclusions in the myoepithelial cells. tron microscopy is not indicated. Fur- thermore, no abnormalities are found in the axilla skin biopsies of the parents of patients5 with Lafora's disease. It has not been deter- mined whether typical deposits of Lafora's disease are present in susceptible cells of the siblings of the patients before the appearance of symptoms. This report shows that Lafora's disease can be diagnosed in the early stages, when only myoclonus is present. This is of practical importance, as skin biopsy may be indicated to classify myoclonus epilepsy when the heredi- tary pattern is unclear.

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