Neonatal cholestasis and infantile Gaucher disease: a case report.

AIM: To report on clinical complications of liver disease occurring during Gaucher disease.

METHODS

A case of Gaucher disease was revealed by neonatal cholestasis and early onset of portal hypertension.

RESULTS

At 7 d of age, a newborn was admitted for cholestasis associated with hepatosplenomegaly and thrombocytopenia. At that time, bone marrow aspirate and liver biopsy did not reveal any engorged cells. The clinical course was marked by early progressive portal hypertension, and the patient died of uncontrollable upper gastrointestinal bleeding. The histological results of the postmortem showed that Gaucher cells were present in the liver, spleen and bone marrow. The diagnosis was confirmed by enzymatic studies.

CONCLUSION

Isolated neonatal cholestasis could be the first sign of Gaucher disease. Gaucher disease should always be considered in such circumstances, even if, initially, the bone marrow aspirate and liver biopsy do not reveal any engorged cells.