| Summary: | Objective To retrospectively analyze the clinical data of a patient with congenital generalized lipodystrophy (CGL) type 2 caused by BSCL2 mutation. Methods The clinical data of a patient with CGL was analyzed, including clinical features, laboratory data. The next generation sequencing was adopted to inspect gene mutations associated with CGL. Sanger sequencing was used to verify the pathogenic mutations. Treatment and follow-up were given to the patient. Results Patient manifested as lacking of subcutaneous fat,hepatomegaly,acanthosis nigricans,developmental retardation,epilepsy,ataxia and neurodegeneration. The levels of serum liver enzyme, triacylglyceride(TAG) and fasting insulin increased. Multiple types of seizures were detected by electroencephalogram (EEG). Gene sequencing revealed homozygous mutations of BSCL2,c.782dupG inherited from his parents respectively. The patient failed to respond to the treatment with diet control, metformin and lamotrigine, and neurologic function deteriorated gradually. Conclusions CGL2 caused by BSCL2 base repeat mutation may have serious and lethal nervous degeneration in addition to typical lipodystrophy.
|
|---|