This syndrome is a mitochondrial, autosomal recessive, chronic and progressive disorder. Onset of symptoms is usually between the first and fifth decades.
Symptoms
- progressive gastrointestinal dysmotility (early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea)
- cachexia
- Hearing loss
- ptosis/ophthalmoplegia
- ophthalmoparesis
- leukoencephalopathy
- demyelinating peripheral neuropathy, paresthesias
- symmetric and distal weakness
Diagnosis/testing
- Brain MRI
- Family history
- Molecular test
- Clinical test
- Biochemical test
Management
It is primarily supportive and includes drugs for nausea and vomiting, gastrostomy, and parenteral feeding for nutritional support, antibiotics for intestinal bacterial overgrowth, neurologic drugs for neuropathic symptoms, specialized schooling arrangements, physical and occupational therapy. Genetic counseling is imperative due to the manner of inheritance.
Useful links
Support Groups
References
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- Pacitti D, Levene M, Garone C, Nirmalananthan N, Bax BE. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far. Front Genet. 2018;9:669.
- Dreznik Y, Gutman M, Weiss B, Nevler A. Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses. J Gastrointest Surg. 2014;18(11):2054-2056.
- Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep. 2007;27(1-3):151-163.