J Korean Diabetes Assoc.  2004 Jun;28(3):231-237.

A Case of MELAS(Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like Episodes) Syndrome Manifested by Diabetic Ketoacidosis

• Jung SH
• Kim EJ
• Im SH
• Ju K
• Choi KH
• Ko SH
• Ahn YB
• Song KH
• Son HY
• Park SK
• Jun JS

Abstract

MELAS(mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) syndrome is a rare cause of mitochondrial encephalomyopathy, with variable clinical features, such as encephalomyopathy, lactic acidosis, stroke, diabetes, short stature, sensorineural hearing loss and basal ganglia calci-fication, etc. It can be confirmed by molecular genetic analysis that reveals the mitochondrial A3243G point mutation. Among the clinical manifestations in MELAS syndrome, diabetes mellitus is associated with impaired insulin secretion and often misdiagnosed type 1 diabetes. Herein, a rare case for the MELAS syndrome, with diabetes mellitus that came from ketoacidosis, is introduced. A 21-year-old woman, carried to the emergency department had a stuporous mentality. She was thin(BMI 16.1kg/m(2)), and had difficulty with her hearing capacity. According to the initial laboratory results, she showed the metabolic acidosis, hyperglycemia, ketonemia, and ketonuria. She was diagnosed as diabetic ketoacidosis and treated with insulin and hydration. Brain imaging from MRI, and a CT scan showed basal ganglia calcification, hemorrhagic infarction and diffuse brain atrophy. The markers for beta-cell autoimmunity were negative. Her electromyography suggested proximal myopathy. In addition, a molecular genetic analysis identified A3243G point mutation in the peripheral blood leukocytes from her, her mother and her sister.

Keyword

MELAS syndrome; Diabetes mellitus; Diabetic ketoacidosis

MeSH Terms

Acidosis
Acidosis, Lactic*
Atrophy
Autoimmunity
Basal Ganglia
Brain
Diabetes Mellitus
Diabetic Ketoacidosis*
Electromyography
Emergency Service, Hospital
Female
Hearing
Hearing Loss, Sensorineural
Humans
Hyperglycemia
Infarction
Insulin
Ketosis
Leukocytes
Magnetic Resonance Imaging
MELAS Syndrome
Mitochondrial Encephalomyopathies
Molecular Biology
Mothers
Muscular Diseases
Neuroimaging
Point Mutation
Siblings
Stroke
Stupor
Tomography, X-Ray Computed
Young Adult
Insulin