Congenital hydrocephalus due to osteopetrosis: A case report

Abstract

Osteopetrosis is a rare genetic disorder characterized by increased bone density due to abnormal bone resorption. We present a case of a new-born  female born at term to a non-consanguineous couple with a history of 2 abortions. Index pregnancy antenatal ultrasound revealed foetal anomalies.  Clinical examination revealed dysmorphic, asymmetrically growth restricted baby with macrocephaly. Investigations demonstrated sclerosis of skull base  and other bones, dandy walker malformation, duodenal stenosis, and multiple cardiac septal defects. The child was cared for with supportive  management and passed-on on the 3 rd day of life. Malignant Osteopetrosis may cause congenital hydrocephalus even before an infant is born; and this  very early central nervous system complication may be associated with poor outcome.