Yonsei Med J.  2003 Apr;44(2):331-335. 10.3349/ymj.2003.44.2.331.

A Case of Late Infantile Neuronal Ceroid Lipofuscinosis

• Lee CW
• Bang H
• Oh YG
• Yun HS
• Kim JD
• Coe CJ

• KMID: 1779485
• DOI: http://doi.org/10.3349/ymj.2003.44.2.331

Abstract

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.

Keyword

Late infantile neuronal ceroid lipofuscinosis; progressive myoclonic seizure

MeSH Terms

Child
Human
Male
Neuronal Ceroid-Lipofuscinosis/*diagnosis/pathology/physiopathology
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