Congenital hydrocephalus affecting siblings of both sexes - With special reference to its clinical feature and the mode of inheritance.:With Special Reference to Its Clinical Feature and the Mode of Inheritance

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• There are some reports of familial neonatal hydrocephalus. It is well known that X-linked hydrocephalus is one of the genetic forms of congenital hydrocephalus. A small number of cases have other genetic forms and are not well known about their clinical features and pathogenesis.<BR>In this report, we described two cases of congenital hydrocephalus involving both sexes. Case 1 was a female baby who was born by cesarean section after 40 weeks of normal gestation to a primiparous mother. Birth weight was 4, 300g and head measured 43cm. Hydrocephalus was diagnosed by CT scan, which revealed a marked enlargement of the lateral ventricles of both side and the third ventricle. Fourth ventricle was of normal size. Chromosomal study was performed on the second day after birth which revealed no abnormality. Her development has been within normal limits.<BR>Case 2 was a male baby who was the younger brother of Case 1. He was born after 38 weeks' gestation also by cesarean section. Birth weight was 3, 300g and head circumference was 39 cm. CT scan revealed the same findings as in Case 1 which confirmed the diagnosis of hydrocephalus. Chromosomal study was normal. Ventriculo-peritoneal shunt was done and his development was excellent. He was one of dizygous twins, and the other baby was normal. Survey of the family revealed no family history of hydrocephalus except for Case 1.<BR>Until now, only 6 families have been reported with familial uncomplicated congenital hydrocephalus including female patients. We discussed the clinical feature and pathogenesis of this genetic form of hydrocephalus.

• 一般社団法人 日本小児神経学会の論文

一般社団法人 日本小児神経学会 | 論文

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