Diabetes ketoacidosis and Recurrent Childhood Stroke-like Episodes

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare maternally inherited disorder.
• It often presents with neurological and metabolic derangements, including stroke-like episodes and diabetes mellitus.

Purpose of the Study:

• To describe a pediatric case of MELAS presenting with diabetic ketoacidosis and recurrent stroke-like episodes.
• To highlight the diagnostic challenges and characteristic neuroimaging findings in pediatric MELAS.

Main Methods:

• Case report of a 13-year-old girl with initial symptoms of fever, vomiting, and hyperglycemia.
• Diagnostic workup included laboratory tests (HbA1C, ketonuria, lactic acidosis), brain MRI, and mitochondrial DNA analysis.
• Clinical course and neuroimaging findings were monitored over several years.

Main Results:

• The patient was diagnosed with MELAS due to the A3243G mitochondrial DNA mutation (64% heteroplasmy).
• Initial presentation mimicked diabetic ketoacidosis, followed by recurrent seizures and stroke-like episodes with characteristic parieto-occipital lesions on MRI.
• Recurrent episodes at ages 16 years and 7 months and 16 years and 10 months showed progressive neurological deficits and brain edema.

Conclusions:

• MELAS can manifest in childhood with overlapping features of diabetic ketoacidosis and neurological deficits.
• Characteristic MRI findings of infarction-like lesions in the parieto-occipital or temporo-occipital regions are crucial for differentiating MELAS from other childhood stroke etiologies.
• Early diagnosis and genetic testing are essential for managing MELAS and its comorbidities.