Exploring Gaucher disease: A pediatric case of severe dyslipidemia and unique symptoms

Abstract

Introduction: Gaucher disease is a rare inherited lysosomal storage disorder caused by mutations in the GBA gene, leading to glucocerebrosidase deficiency. This results in the accumulation of glucocerebroside in macrophages, forming "Gaucher cells" that infiltrate various tissues, primarily affecting the liver, spleen, bone marrow, and nervous system. The disease manifests in three types, with Type 1 being the most common and devoid of neurological symptoms. Diagnosis involves enzyme level testing, genetic screening, and imaging, while treatment primarily consists of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Case-Report: A one-year-old girl presented with weakness, irritability, and recurrent fever over six months, previously misdiagnosed with malaria and respiratory infections. Physical examination revealed pallor, hepatosplenomegaly, and cherry-red spots on fundoscopy. Laboratory findings indicated anemia, leukocytosis, and severe dyslipidemia, highlighting atypical features for Gaucher disease. Discussion: This case emphasizes the diagnostic challenges in pediatric Gaucher disease, especially with nonspecific symptoms. The combination of cherry-red spots and dyslipidemia suggests a unique variant or severity of the disease, underlining the necessity for heightened awareness among healthcare providers for prompt diagnosis. Conclusion: Gaucher disease should be considered in pediatric patients with unexplained systemic symptoms. Early detection and ERT initiation can significantly improve clinical outcomes. The case illustrates the variability in clinical presentations, emphasizing the need for comprehensive diagnostic evaluation.