Open AccessA Case of Late Infantile Neuronal Ceroid Lipofuscinosis
Author(s) -
Chang Woo Lee,
Hoil Bang,
Yeon Gyun Oh,
Hyang Suk Yun,
Jong Duck Kim,
Chang Jun Coe
Publication year - 2003
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.2003.44.2.331
Subject(s) - neuronal ceroid lipofuscinosis , atrophy , batten disease , medicine , cerebral atrophy , dementia , neuroscience , ataxia , pathology , psychology , pediatrics , disease
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.