Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report

Abstract

Rationale:Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare.Patient Concerns and Diagnoses:One child with BSCL2 mutation and CGL accompanied by progressive myoclonic epilepsyDiagnosis: He was diagnosed with epilepsy, CGL, and severe malnutrition.Interventions:He was treated with sodium valproate, baclofen, aripiprazole, benzhexol, and lamotrigine for epilepsy.Outcomes:After 16 days of medical treatment for epilepsy, the disease was improved and the child was discharged with gastric tube inserted for the management of malnutrition.Lessons:CGL and progressive myoclonic epilepsy is rare, and the epilepsy is partially refractory to treatments. In this particular case, the nutritional status was compromised as a complication of progressive myoclonic epilepsy and had to be managed.