title: Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.
abstract: Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike and wave discharges in the electroencephalogram, which were diminished at a higher frequency of stimulation. The electroretinogram was extinct. Magnetic resonance imaging of the brain showed generalised cerebral and cerebellar atrophy. Electron microscopic examination of lymphocytes and samples of muscle and skin revealed characteristic curvilinear inclusion bodies. To our knowledge, this is the first case of late infantile neuronal ceroid lipofuscinosis to be reported in a Hong Kong Chinese patient.
authors.affiliation: Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Hong Kong.
authors.forename: C H
authors.initials: CH
authors.lastname: Ko
authors.forename: C K
authors.initials: CK
authors.lastname: Kong
authors.forename: T C
authors.initials: TC
authors.lastname: Chow
authors.forename: K C
authors.initials: KC
authors.lastname: Lee
mesh_terms: D000626:Aminopeptidases; D002675:Child, Preschool; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D004569:Electroencephalography; D010450:Endopeptidases; D005074:Evoked Potentials, Visual; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology / Q000503:physiopathology*; D010447:Peptide Hydrolases / Q000235:genetics; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases