wolman disease-a case report in siblings

Abstract

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.