A case of late infantile neuronal ceroid lipofuscinosis.
Neuronal ceroid lipofuscinosis, which is also known as Batten-Bielschowsky disease, is a group of neuro degenerative disorders, associated with various progressive symptoms including seizures, dementia, visual loss and cerebral atrophy. We experienced a case of late infantile neuronal ceroid lipofuscinosis in a 6-year-old boy who had progressive myoclonic seizures, ataxia, rapid psychomotor deterioration and visual loss. Photic stimulation at 2 to 5 Hz elicited a discrete spike and wave discharges in the occipital region on an electroencephalogram. Magnetic resonance imaging of the brain showed generalized cerebral and cerebellar atrophy. An electron microscopic examination of the skin revealed characteristic curvilinear inclusion bodies. An optic fundoscopy revealed a devastated retina and severe optic atrophy. We report this case with the brief review of related literature.
Lee
Chang-Woo
CW
Department of Pediatrics, Yonsei University College of Medicine, Institute for Handicapped Children, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-752, Korea.
Bang
Hoil
H
Oh
Yeon-Gyun
YG
Yun
Hyang-Suk
HS
Kim
Jong-Duck
JD
Coe
Chang-Jun
CJ
D002648:Child; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology