Osteopetrosis a Rare Cause of Anemia - Case Report
Journal Title: Journal of Medical Science And clinical Research - Year 2014, Vol 2, Issue 10
Abstract
Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to abnormal osteoclast activity. We report a case of two year old girl, diagnosed as MIOP while investigating the cause of anemia with hepatosplenomegaly and hydrocephalus. Her medical history revealed non consanguineous parents. Systemic examination showed severe anemia, hepatosplenomegaly, growth failure, and rickets. Skeleton radiographs detected generalized dense bone. Cerebral CT scan revealed hydrocephalus. MIOP was suspected based on clinical, radiological and haematological findings. MIOP should be kept in mind as a rare cause of anemia. Early diagnosis and timely hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease
Authors and Affiliations
Dr Ujjwala Keskar
Keywords
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