Publication:

Recurrent hydrocephalus with neural tube defect: a case report

The occurrence of congenital hydrocephalus in successive pregnancies is a rare event. Several modes of genetic transmission have been suggested for familial cases of hydrocephalus. The most common heritable pattern of inheritance is X-linked recessive aqueductal stenosis which carries 25% risk of recurrence in future pregnancies with 50% risk for male fetuses. In families where multiple siblings of both the sexes are affected, an autosomal recessive inheritance due to consanguinity has been an alternative explanation. We report a case of female baby with congenital hydrocephalus and lumbar myelomeningocele who was born of a mother with a history of male babies with congenital hydrocephalus in her previous two pregnancies. She had first degree consanguinity with her husband. We discuss the possible differential diagnoses and etiological factors.