Lysosomal Acid Lipase Deficiency in Libya: A Case Report

Abstract

Lysosomal acid lipase deficiency (LAL) is a rare autosomal recessive disorder caused by mutations in the LIPA gene. Wolman disease (WD) is a severe subtype characterized by almost absence of LAL activity. Patients usually present in infancy with gastrointestinal and hepatic manifestations leading to death within the first year of life if left untreated. We report a case of a Libyan infant boy who presented at 3 months of age with persistent vomiting, diarrhea, poor feeding, and failure to thrive. Investigations revealed hypokalemia, hyponatremia, elevated liver enzymes, and abnormal fat in stool. Abdominal imaging showed hepatosplenomegaly, enlarged lymph nodes, and bilateral adrenal calcification suggestive of WD. His condition deteriorated and he succumbed to complications of hepatic failure. Genetic testing confirmed LIPA gene mutation consistent with WD. In conclusion, this study reports the first case of WD in a Libyan infant. Radiological imaging was crucial in identifying specific features of the disease. Unfortunately, the disease progresses rapidly and often results in fatal outcomes in early childhood, highlighting the limited treatment options available for this rare genetic disorder.v