[A case of cerebral lipidosis with an atypical presentation (author's transl)].
The authors have reported a case of cerebral lipidosis (type Jansky-Bielschowsky) in which the presenting features appeared at the age of 2 years 10 months, and consisted of clonic seizures followed by atonic attacks and atypical absences. The association of seizures, severe mental disturbances and EEG abnormalities with an interseizure abnormality (diffuse slow waves) led to an initial misdiagnosis of the Lennox-Gastaut syndrome. The diagnosis which is suspected on the basis of clinical features (epilepsy, mental deterioration, pyramidal features), EEG signs (spikes on photic stimulation at low frequency or isolated) and ophthalmological investigations (ERG reduced response, abnormal VERs) was eventually made by rectal biopsy.
D002540:Cerebral Cortex / Q000503:physiopathology; D002566:Ceroid / Q000378:metabolism*; D002675:Child, Preschool; D004569:Electroencephalography; D006801:Humans; D066298:In Vitro Techniques; D008064:Lipidoses / Q000175:diagnosis* / Q000503:physiopathology; D008062:Lipofuscin / Q000378:metabolism*; D010860:Pigments, Biological / Q000378:metabolism*
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological
Céroide lipofuscinose à début atypique.