Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease: a case Report of a rare Autosomal Recessive Inheretance with a poor Prognosis
Mitochondrial Neurogastrointestinal Encephalopathy Disease; Synonyms: MNGIE Syndrome, Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Myoneurogastrointestinal Encephalopathy Syndrome, Thymidine Phosphorylase Deficiency; is characterized by progressive gastrointestinal dysmotility and cachexia manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea; ptosis/ophthalmoplegia or ophthalmoparesis; hearing loss; and demyelinating peripheral neuropathy manifesting as paresthesias. The clinical diagnosis of MNGIE disease is based on the presence of severe gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy, asymptomatic leukoencephalopathy as observed on brain MRI, and family history consistent with autosomal recessive inheritance. Management is supportive and includes attention to swallowing difficulties and airway protection; dromperidone for nausea and vomiting; celiac plexus block with bupivicaine to reduce pain; bolus feedings, gastrostomy, and parenteral feeding for nutritional support; antibiotics for intestinal bacterial overgrowth; morphine, amitriptyline, gabapentin, and phenytoin for neuropathic symptoms; specialized schooling arrangements; and physical and occupational therapy.
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