GAUCHER DISEASE;

A CASE REPORT

Abstract

Objective: Gaucher disease is a lipid storage disease characterized by the deposition of glucocerbroside in cells of the Reticulo
Endothelial cells (RET) system ,which encoded by a gene located on chromosome 1q21-q31.Gaucher disease occurs 1/50000 to1/100000
people in the general population. There are three clinical subtypes delineated by the absence or presence and progression of neurologic
manifestation. All 3 types of Gaucher disease are inherited as autosomal recessive traits. Case report: A 13-month -old- female infant was born
from relative parents referred to the 17-shahrivar hospital with tachypnea, Respiratory distress, and abdominal distension. In the physical
examination, the patient was pale, ronchi on both lungs were heard. Respiratory distress and substernal retraction, abdominal distension due to
hepatosplenomegaly, fine parallel lines in different sizes on the abdomen due to phlebotomy observed. Laboratory findings, pancytopenia
reported and Bone Marrow Aspiration (BMA) Gaucher cells have been observed and abdominal sonography has been reported huge
hepatosplenomegaly. For definitive diagnosis, β glucosidase activity was measured and Hydrolase acid β glucosidase activity deficiency was
improved. The patient was treated by intravenous acid β glucosidase every other week. Conclusions: Genetic counseling is recommended for
prospective parents with a family history of Gaucher disease.