A Case of Diffuse Cerebral Cortical Dysplasia and Partial Agenesis of Corpus Callosum in Seckel Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 84-89, 2009.
Artículo
en Coreano
| WPRIM
| ID: wpr-223826
ABSTRACT
Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including receding forehead and chin, a prominent beaked nose and large eyes. A number of CNS anomalies have been reported in literature that are mental retardation, seizures, pachygyria, arachnoid cysts, large basal ganglia, agenesis of corpus callosum, hypoplasia of cerebellar vermis and cerebral aneurysms. Our patient had seizures, microcephaly, mental retardation and CNS anomalies, including diffuse cerebral dysgenesis, pachygyria and partial agenesis of corpus callosum. We report a case of Seckel syndrome with CNS anomalies and a follow up visit at 5 years later
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Ganglios Basales
/
Pico
/
Aves
/
Recién Nacido de Bajo Peso
/
Aneurisma Intracraneal
/
Nariz
/
Estudios de Seguimiento
/
Quistes Aracnoideos
/
Mentón
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Animales
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2009
Tipo del documento:
Artículo
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