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

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare. One child with BSCL2 mutation and CGL accompanied by progressive myoclonic epilepsyDiagnosis: He was diagnosed with epilepsy, CGL, and severe malnutrition. He was treated with sodium valproate, baclofen, aripiprazole, benzhexol, and lamotrigine for epilepsy. 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. 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.