Gaucher Disease in 20-Month-Old Ethiopian Boy with a Massive Splenomegaly and Failure to Grow: Challenges in Case Management

Abstract Background: Gaucher disease is an autosomal recessive lipid storage disorder caused by genetic mutations in the GBA gene. Symptoms are variable, range from asymptomatic to perinatal lethality, and can occur at any age. Case report: This report details a case of a 20-month-old male born in Harar and referred to Hiwot Fana Specialized University Hospital, Harar, Ethiopia for evaluation of severe acute malnutrition, hepatosplenomegaly, and Developmental regression since the age of 8 months. He was well known for receiving blood transfusions due to anemia with persistent thrombocytopenia multiple times. On clinical examination, there was no dimorphism but had pallor, multiple lymphadenopathies with enlarged Liver, and a massive spleen. His assessment showed anemia was associated with marked thrombocytopenia. Bone marrow biopsy revealed Gaucher cells, confirmatory test for Gaucher disease, B-glucocerebrosidase activity results showed low activity and mutation detected in homozygous condition c. 1448 T>C p. (Leu483Pro). Over a year his abdomen became progressively distended, and he began to have breathing problems. Unfortunately, while seeking donated medical treatment, he died suddenly in the hospital after serious bleeding mainly due to a delayed diagnosis and a lack of supplies of medicines. This case was presented to demonstrate the challenges in diagnosing and treating Gaucher disease, especially in a resource-constrained environment like ours Conclusions: This case demonstrates the need to include this disease in the differential diagnosis when dealing with unexplained thrombocytopenia, anemia, hepatomegaly, and splenomegaly