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Recurrent hydrocephalus with neural tube defect: a case report

Journal: International Journal of Contemporary Pediatrics (Vol.1, No. 3)

Publication Date:

Authors : ; ; ; ; ;

Page : 172-174

Keywords : Recurrent congenital hydrocephalus; Neural tube defect; Periconceptional folic acid;

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Abstract

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.

Last modified: 2014-12-19 00:24:24