Wolman disease-a case report in siblings

In born errors of metabolism are rare, difficult to diagnose and treat. We had such a rare case scenario of a 22 year old women whose first child was a diagnosed case of Wolman disease, came to our og opd with 8 weeks of pregnancy for further evaluation. Wolman disease is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase ,It is an autosomal recessive condition involving the breakdown and use of fats and cholesterol in the body. She was counseled regarding the prognosis of the disease and need for detailed evaluation by chorionic villous sampling or amniocentesis.