모계 유전된 제2형 당뇨병 및 청각 장애를 보인 MELAS 증후군 1예

초록

MELAS syndrome is typically a multisystemic disorder. We report one case of MELAS showing both maternally transmitted type II diabetes mellitus (DM) and deafness. A 41-year-old woman was admitted because of severe headache and vomiting. She developed type II DM at age 26 and was followed by bilateral sensorineural type hearing loss at age 37. Family history revealed that her mother and two sisters suffered from similar disorders. MELAS with A3243G point mutation was confirmed in the patient and her daughter.

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