Encephalopathy associated with lamellar residual bodies in astrocytes (Towfighi, Grover and Gonatas 1975):a new observation.
A 7-year-old male patient presented a few episodes of convulsions during the first year of life. The psychomotor development has been normal during that period of time after which a steadily progressive deterioration occurred. Increasingly severe pyramidal signs, optic atrophy, quadriparesis and progressive evolution towards a decorticate state were noted. Skin and neuromuscular biopsies were not contributory. A brain biopsy showed the presence of lamellar inclusions in astrocytes and, to a lesser extent, in neurons. Such features have only been reported once in two siblings by Towfighi et al. (1975). The nosological situation of this disease is discussed.
D001253:Astrocytes / Q000473:pathology*; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis / Q000473:pathology*; D002648:Child; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D009457:Neuroglia / Q000473:pathology*; D009896:Optic Atrophy / Q000209:etiology; D010291:Paresis / Q000209:etiology; D010543:Peroneal Nerve / Q000473:pathology; D011596:Psychomotor Disorders / Q000209:etiology; D012867:Skin / Q000473:pathology