RESUMEN
BACKGROUND: Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly. We present the case of a carrier of Gaucher disease with gestational thrombocytopenia and anemia that required blood transfusion therapy. CASE PRESENTATION: A 24-year-old Nepalese primipara was diagnosed with idiopathic thrombocytopenia at 12 weeks of gestation. Her platelet count had reduced to 30,000/µL at 21 weeks of gestation, and the hemoglobin content reduced to 7.6 g/dL at 27 weeks of gestation. As she did not respond to any medication, blood transfusion was performed. A female infant weighing 2677 g was delivered vaginally at 39 weeks of gestation. On the 78th day of puerperium, the platelet count of the mother recovered to 101,000/µL, and the hemoglobin content recovered to 12.5 g/dL. The infant had convulsions, respiratory depression, wheezing, systemic purpura, and exfoliation of the epidermis at birth. The infant was diagnosed with Gaucher disease at 37 days of age and passed away at 82 days of age. Subsequently, the parents were diagnosed as carriers of Gaucher disease. CONCLUSION: As carriers of this disease do not usually show symptoms, it is imperative to provide information regarding disease management for future pregnancies.