Mitochondrial Diabetes A Rare Case

Address for correspondence Dr. Arun Kumar Singh E-mail; arunsinghnepal@gmail.com 1Dr. Arun Kumar Singh, MBBS, MD, FellowshipPaediatric Endocrinology and Diabetes, BP Koirala Institute of Health Sciences, Dharan, Nepal, 2Dr. Aoki Msasko, 3Dr. Midori Miyata, 4Dr. Yusuke Mine, 5Dr. Junichi Suzuki, 6Dr. Tatsuhiko Urakami, all from the Department of Paediatrics, Nihon University Hospital,Tokyo,Japan.


Introduction
M itochondrial diabetes fi rst described in 1992 by van den Ouweland et al in a Dutch family and by Reardon et al in a UK family 1 mitochondrial diabetes is commonly associated with sensorineural deafness and is characterised by progressive nonautoimmune beta-cell failure 2 .Maternal transmission of mutated mitochondrial DNA (mt DNA) can result in maternally inherited diabetes.Although several mutations have been implicated, the strongest evidence relates to a point substitution at nucleotide position 3243 (A to G) in the mitochondrial tRNA [leu(UUR)] gene 3 .Besides the frequently reported mt DNA 3243A>G mutation 4 , several other mtDNA variants have been associated with a diabetic phenotype suggestive of MIDD 5,6 .Characteristics of mitochondrial diabetes mellitus (MDM) presenting with the mitochondrial DNA 3243 (A→G) mutation are short stature, slim body type, neurosensory deafness, cardiomyopathy, and central nervous disorder 6 .
Currently, there is no eff ective therapy for treating MDM.In this study, we reviewed a case of MDM presenting with the mitochondrial DNA 3243 (A→G) mutation, and CQ10 was useful for the resolution of its characteristic clinical symptoms 7 .

The Case
Twenty fi ve years old female was detected as having glycosuria conducted at her school and referred to Nihon University, Tokyo, Japan about 15 years ago she was not obese and negative for all pancreatic antibodies, her HbA1c was 9.7 % and insulin secretion was not exhausted.After eight months since regular visit, she was diagnosed as having MDM presenting with mitochondrial DNA 3243 (A-G) mutation.She had taken oral hypoglycaemic agents and received insulin injections, and HBA1c level was 8%-9%.Electrocardiogram was done 12 years back where she was diagnosed with Wolff -Parkinson-White (WPW) syndrome.
At one year of age left ventricular hypertrophy was detected and diagnosed with mitochondrial cardiomyopathy.Bilateral sensory deafness was identifi ed at the age of sixteen.Growth developmental history was normal.
Her mother is now 43 years old and is diabetes patient with hypoglycaemic agent.At 33 years of age her mother was diagnosed with 3243 mutation and her father is not diabetic.She has one sister who was also diagnosed as 3243 mutation at age of 13 years.

Discussion
Patient was diagnosed and confi rmed mitochondrial diabetes by gene analysis mutation DNA 3243 (A-G) Metformin should be avoided in Mitochondrial diabetes 9 , because risk of severe lactic acidosis in presence of mitochondrial dysfunction 6 .So on should need to properly investigate and diagnose diabetes patients for better treatment and management in developing country 8 .Other form of insulin dependent DM associated

Conclusion
Beside CQ10 multiple daily insulin injections started, so it was diffi cult to understand which of the two resulted in resolution of the symptoms; however, insulin secretion improved and HbA1c level and lactic acid was decreased.CQ10 was considered eff ective for MDM.In this regard, further evaluation needed to elucidate the eff ect of CQ10 and Metformin should be avoided in mitochondrial diabetes

Fig 1 :
Fig 1: CT scan showing bilateral cortical sulci and ventricular systems are mildly prominent-suggestive of mild cerebral atrophy, bilateral cerebral hemisphere are normal.No calcifi cation.No extra axial collection.

Fig 2 :
Fig 2: Shows bilateral cortical sulci, ventricular system and CSF spaces in posterior fossa are prominent-suggestive of diff use brain atrophy.Bilateral cerebral hemisphere are normal in signal intensity