Myoneurogastrointestinal encephalopathy syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.

Diagnosis

History and Symptoms

• Satiety) after eating only a small amount
• Dysphagia
• Nausea and vomiting
• Odynophagia
• Abdominal pain
• Diarrhea and intestinal blockage.

These gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia).

Physical Examination

Eyes

• Ptosis
• Opthalmoplegia

Neurologic Examination

• Hearing loss
• Tingling, numbness, and weakness in their limbs
• Peripheral neuropathy, particularly in the hands and feet.

MRI

Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen with magnetic resonance imaging (MRI).