Mitochondrial diabetes accompanied by benign symmetric lipomatosis - A case report

Mariko Higa, Eiko Yoshida, Ayumi Yoshifuji, Ryo Iga, Kaoru Yamashita, Megumi Hongo, Takamasa Ichijo, Hiromi Ouchi, Naoki Hiroi

Research output: Contribution to journalArticlepeer-review

Abstract

A nonalcoholic woman in her 60s being treated for diabetes was admitted to the hospital due to the progressive increase of a subcutaneous tumor around her neck over 2 years. The largest part was 20 cm in length, and was seen on the posterior neck and back. She also had severe hearing loss and dilated cardiomyopathy. Laboratory data revealed elevated levels of lactate and pyruvate, while magnetic resonance imaging of the neck revealed prominent fat accumulation, and the pathologic findings showed a lipoma. From these findings and the tumor's characteristic appearance, the diagnosis was confirmed as benign symmetric lipomatosis (Madelung's disease). Furthermore, the patient was diagnosed as having mitochondrial diabetes associated with G→A substitution at nucleotide 8363 in the mtDNA. Benign symmetric lipomatosis associated with mitochondrial diabetes is extremely rare.

Original languageEnglish
Pages (from-to)17-22
Number of pages6
JournalJournal of the Japan Diabetes Society
Volume55
Issue number1
Publication statusPublished - 2012 Jan 30
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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