Global Pediatrics (Sep 2023)
Gaucher's disease in children: Case report from Afghanistan with literature review
Abstract
Introduction and importance: Gaucher's disease (GD) or lysosomal storage disease, is one of the rare genetic disorders resulting from glucocerebrosidase deficiency. Clinical manifestations include a swollen belly (hepatosplenomegaly), bruising due to thrombocytopenia, anemia, fatigue, bone pain, and neurological involvement. Diagnosis is made by measuring the level of glucocerebrosidase enzyme in the blood, using dual energy X-ray absorptiometry (DXA), and performing genetic tests. For some types of GD, enzyme therapy is now available. Case presentation: A 5-year-old child with a high-grade fever and splenomegaly was admitted to our teaching hospital's pediatric surgery department. The patient had genetic screening in early childhood outside the country, confirming the diagnosis of GD. Following the appropriate anti-bacterial therapy, the patient underwent splenectomy for conditions such as splenomegaly, lack of enzyme replacement therapy, and the patient's susceptibility to trauma. Clinical discussion: GD is a rare disease that is frequently confused with thalassemia. If there are no visible signs and symptoms, the disease is overlooked and left untreated. Our clinical justifications for surgical operation (splenectomy) were splenomegaly, lack of enzyme replacement therapy (an integral part of gaucher's disease treatment), and prevention of splenic rupture (as a result of falling down due to child neglect, which is common in Afghanistan). During the 1-year post-operative follow-up, our patient experienced two episodes of high-grade fever, which were treated appropriately. Conclusion: Due to the rarity of GD, the disease is left untreated and undiagnosed for a long time, mainly in developing countries where definite diagnostic modalities are not readily available. Diseases with similar symptoms should always be considered in the differential diagnosis. Early enzyme replacement therapy is the key to improve the quality of life, but it is not available in developing nations.
