Abstract Ref Number = APCP1161
GAUCHER DISEASE TYPE I A CASE REPORT OF 3 YEARS OLD GIRL WITH MASSIVE SPLENOMEGALLY
Selvi Mella Maharani,Dessy Adeliana,Rina Pratiwi,Maria Mexitalia,Nyoman Suci Widyastiti,F Mardiana Wahyuni
Department of Pediatrics Faculty of Medicine Diponegoro University Dr Kariadi Hospital Semarang Departement of Clinical Pathology Faculty of Medicine Diponegoro University Dr Kariadi Hospital Semarang Departement of Radiology Faculty of Medicine Diponegoro University Dr Kariadi Hospital Semarang
Background : Gaucher disease (GD) is a rare autosomal recessive inherited disorder of metabolism where a type of fat called glucocerebroside cannot be adequately degraded and accumulate in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. The prevalence is approximately 1:100.000 live birth. Gaucher Disease patient exibit low glucosidase and elevation of chitotriosidase with varying clinical symptom. Nowadays, Enzyme Replacement Theraphy (ERT) is the only theraphy for GD Type I, but it comes with other problems because of livelong intravenous theraphy and high cost.
Case Presentation Summary : This is a case report of Gaucher Disease type I in a 3 years old girl, first born of unconsanguinaeous marriage presented earlier with gradually increasing abdominal girth, hepatomegally, massive splenomegally. The laboratory investigation revealed bicytopenia (hemoglobin 8 g/dL and platelet: 42x103/uL). The skeletal survey result was multiple anterior vertebral notch and erlenmeyer flask deformity in left femur. Abdominal USG was hepatosplenomegally with normal parenchyme. Diagnosis of Gaucher Disease was confirmed by glucocerebrosidase level estimation, the result was low ß-glucosidase activity (1,58 Um/hr) and elevation of DBS chitotriosidase activity (6.152,34 nmol/mL WB/hr).
Learning Points/Discussion : Gaucher Diseaser is a rare and unfamiliar disease in Indonesia. Clinician should be aware in patient who present with unexplained hepatosplenomegally and bicytopenia. The earlier of diagnosis in this disease improving the prognosis. Current option of available treatment include ERT with Cerezyme (imiglucerase) that given 60 U/kg once every 2 weeks. This patient come from low social economic level, for the next theraphy she will be planned to register to Rare Disease Foundation to get relief fund.
Keywords: gaucher hepatosplenomegally bycitopenia ß glucosidase