Medicine · 2019
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
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Zhang Yi, Chen Xiaofei, Luo Feixiang, Jiang Lihua, Xu Jialu, Chen Shuohui
Аннотация
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.
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.