A Case of Late Infantile Neuronal Ceroid Lipofuscinosis
Yonsei Medical Journal
;
: 331-335, 2003.
Artigo
em Inglês
| WPRIM
| ID: wpr-201987
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Lipofuscinoses Ceroides Neuronais
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2003
Tipo de documento:
Artigo
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