Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease: a case Report of a rare Autosomal Recessive Inheretance with a poor Prognosis

Hanan Abdel Hafez; Ahmed Cordie; Mohamed Abd Allah; Maha Hasaballah; Wafaa El Akel; Samar Darwish; Tamer El Baz; Aisha El Sharkawy; Hend Shousha; Rasha El Etreby; Ahmed Farag; Ahmed Safina; Ahmed El Henawi; Hany Salama; Amro Abdel Fatah; Maissa El Raziky; Iman Ramzy

Authors

Hanan Abdel Hafez Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Ahmed Cordie Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Mohamed Abd Allah Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Maha Hasaballah Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Wafaa El Akel Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Samar Darwish Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Tamer El Baz Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Aisha El Sharkawy Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Hend Shousha Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Rasha El Etreby Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Ahmed Farag Surgery Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Ahmed Safina Surgery Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Ahmed El Henawi Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Hany Salama Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Amro Abdel Fatah Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Maissa El Raziky Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Iman Ramzy Endemic Medicine Department, Faculty of Medicine, Cairo University, Cairo, Egypt

Keywords:

MNGIE, dysmotility, syndrome, vomiting, Myoneurogastrointestinal

Abstract

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.