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INTRODUCTION
Lafora disease (LD) is an autosomal recessive disease characterized by a progressive myoclonus epilepsies (PME). The diagnosis is suggested by the association, in an adolescent, of epilepsy, myoclonic seizures and progressive cognitive deterioration. The electroencephalogram is characteristic and confirmation is made by histological examination [1]. The evolution is often fatal. We report the case of a 16 year old girl, who presents from the age of 14 seizures and myoclonus.
CASE REPORT
Our case is a 16 years old girl, born from a first degree consanguineous marriage with two sisters died of the same symptoms. The onset of the disease was at the age of 14 by the appearance of generalized tonic-clonic and myoclonic seizures with progressive cognitive deterioration. The skin examination was normal. Neurological examination found a cerebellar syndrome. The electroencephalogram (EEG) showed an epileptic encephalopathy. All the laboratory tests were normal. The magnetic resonance imaging showed cerebral atrophy. Histological study of skin biopsy performed at the axillary region shows the presence of eosinophils Lafora bodies in cytoplasms of epithelial cells of apocrine sweat glands (Fig. 1 [See PDF]). These Lafora bodies were PAS positive (Fig. 2 [See PDF]). The diagnosis of Lafora disease was made.
Figure 1 [See PDF]
(HEx400) Eosinophilic bodies in the cytoplasm of epithelial cells lining the excretory ducts of apocrine sweat glands.
Figure 2 [See PDF]
(HEx1000)...