Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children

Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration o

Idiopathic Spinal Epidural Lipomatosis: Unusual Presentation and Difficult Management

Epidural lipomatosis (EL) is a pathology characterized by abnormal accumulation of unencapsulated fat in the epidural space. Although rare, it is a possible cause of lumbosciatica or narrow lumbar canal in adults. It is often associated with favorable factors such as prolonged corticosteroid therapy or obesity. We report an observation of an 18-month-old child who presented with walking delay without other abnormalities, and the radiological exploration confirmed the lumbar epidural lipomatosis. The management was mainly symptomatic, based on motor physiotherapy with additional management in neurosurgery. Various etiologies can cause this disease, remain rare in pediatrics, and the idiopathic form is predominant in children