A Case of Tuberous Sclerosis with Hemimegalencephaly / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 231-236, 2009.
Article
in Korean
| WPRIM
| ID: wpr-121621
ABSTRACT
Hemimegalencephaly and tuberous sclerosis complex are distinct and rare conditions which are characterized by malformations of cortical developments. Hemimegalencephaly is a cerebral malformation of unknown pathophysiology characterized by asymmetry of the hemispheres and cortical dysplasia. Tuberous sclerosis complex(TSC) is an autosomal dominant neurocutaneous disorder characterized by the formation of hamartomatous lesion in multiple organ systems. While they are currently thought to be unrelated, there are similar cases in the literature and it is conceivable that an abnormality in early cortical development could lead to both conditions in an individual. We report here a first Korean case of unusual association of hemimegalencephaly and tuberous sclerosis complex with mutation in the TSC2 gene, who presented initially frequent partial seizures and infantile spasms.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Tuberous Sclerosis
/
Neurocutaneous Syndromes
/
Epilepsy
/
Malformations of Cortical Development
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2009
Type:
Article
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