CONGENITAL ICHTHYOSIS WITH RESTRICTIVE DERMOPATHY AND GAUCHER DISEASE- A NEW SYNDROME WITH ASSOCIATED PRENATAL DIAGNOSTIC AND PATHOLOGY FINDINGS

Background: Since 1988, three nonrelated fatal cases of congenital ich thyosis associated with Gaucher disease have been described in Austral ia. Case: We present a case of Gaucher disease with congenital ichthyo sis and restrictive dermopathy and describe the associated prenatal so nographic findings and pathology of this new syndrome. Conclusion: The unusual association of congenital ichthyosis with lipid storage disea se may be suspected prenatally. A high index of suspicion may prove th is condition to be more common than previously thought.