A Case of Walker-Warburg Syndrome Presented with Seizures
Journal of the Korean Child Neurology Society
;
: 332-337, 2010.
Article
in Korean
| WPRIM
| ID: wpr-204567
ABSTRACT
Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures. In 1942, Walker was the first to report a case of WWS. As Fukuyama congenital muscular dystrophy or muscle-eye-brain disorder, it has been demonstrated that the glycosylation defects of alpha-dystroglycan which take a great role in muscle and neuron regeneration are at the root of these disorders. We report a five months old male patient who was presented with seizures as the chief complaint and was diagnosed with WWS, based on clinical criteria, MRI, muscular biopsy, ocular examination, and laboratory findings.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Regeneration
/
Retinaldehyde
/
Seizures
/
Biopsy
/
Glycosylation
/
Brain
/
Dystroglycans
/
Lissencephaly
/
Walker-Warburg Syndrome
/
Hydrocephalus
Limits:
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2010
Type:
Article
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