Diagnosis and Treatment > Signs and Symptoms > Nystagmus
You are looking at 1 - 1 of 1 items
Eastern Health Clinical School, Monash University, Victoria, Australia
Search for other papers by Ming Li Yee in
Google Scholar
PubMed
Search for other papers by Rosemary Wong in
Google Scholar
PubMed
Medical Imaging, Eastern Health, Box Hill, Victoria, Australia
Search for other papers by Mineesh Datta in
Google Scholar
PubMed
Department of Medicine and Radiology, University of Melbourne, Victoria, Australia
Search for other papers by Timothy Nicholas Fazio in
Google Scholar
PubMed
Search for other papers by Mina Mohammad Ebrahim in
Google Scholar
PubMed
Search for other papers by Elissa Claire Mcnamara in
Google Scholar
PubMed
Search for other papers by Gerard De Jong in
Google Scholar
PubMed
Eastern Health Clinical School, Monash University, Victoria, Australia
Department of Medicine, Eastern Health, Box Hill, Victoria, Australia
Search for other papers by Christopher Gilfillan in
Google Scholar
PubMed
Summary
Mitochondrial diseases are rare, heterogeneous conditions affecting organs dependent on high aerobic metabolism. Presenting symptoms and signs vary depending on the mutation and mutant protein load. Diabetes mellitus is the most common endocrinopathy, and recognition of these patients is important due to its impact on management and screening of family members. In particular, glycemic management differs in these patients: the use of metformin is avoided because of the risk of lactic acidosis. We describe a patient who presented with gradual weight loss and an acute presentation of hyperglycemia complicated by the superior mesenteric artery syndrome. His maternal history of diabetes and deafness and a personal history of hearing impairment led to the diagnosis of a mitochondrial disorder.
Learning points:
-
The constellation of diabetes, multi-organ involvement and maternal inheritance should prompt consideration of a mitochondrial disorder.
-
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) and maternally inherited diabetes and deafness (MIDD) are the most common mitochondrial diabetes disorders caused by a mutation in m.3243A>G in 80% of cases.
-
Metformin should be avoided due to the risk of lactic acidosis.
-
There is more rapid progression to insulin therapy and higher prevalence of diabetic complications compared to type 2 diabetes.
-
Diagnosis of a mitochondrial disorder leads to family screening, education and surveillance for future complications.
-
Superior mesenteric artery syndrome, an uncommon but important cause of intestinal pseudo-obstruction in cases of significant weight loss, has been reported in MELAS patients.
