A Case of Joubert Syndrome / 대한소아신경학회지
Hyun-Sook KIM; Heung-Dong KIM; Churl-Young CHUNG; Woo-Ho CHO; Hyun-Sook KIM; Heung-Dong KIM; Churl-Young CHUNG; Woo-Ho CHO.
Journal of the Korean Child Neurology Society
; (4): 153-158, 1997.
Artículo
en Ko
| WPRIM | ID: wpr-57169
Joubert syndrome is a rare hereditary brain malformation and transmitted as an autosomal recessive tarit. This disorder is clinically characterized by episodic tachypnea and apnea, abnormal ocular movements, developmental delay and ataxia. Anatomic anomalies include cerebellar vermal agenesis with dilatation of the fourth ventricle. Symptomatic onset is in the neonatal period and prognosis is severe. We have experienced a case of Joubert syndrome in a 3months old male patient, who manifested by developmental delay, periodic tachypnea and apnea, abnormal eye movement, generalized hypotonia and hypoplasia of cerebellar vermis with the 4th ventricular dilatation on brain MRI. We presented this case with a brief review of literatures.
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