Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision

Abstract

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive condition characterized by gastrointestinal dysmotility, external ophthalmoplegia, leukoencephalopathy, and sensorimotor neuropathy. A 31-year-old man was referred for a 1-year history of horizontal diplopia related to a large exotropia from chronic progressive external ophthalmoplegia. MRI revealed a diffuse leukoencephalopathy and his 3-year history of chronic intermittent diarrhea, cachexia, and diffuse sensory more than motor peripheral neuropathy led to a unifying clinical diagnosis of MNGIE. This was later confirmed with genetic testing, which revealed a homozygous pathogenic mutation in the thymidine phosphorylase (TYMP) gene. His younger brother had an identical clinical syndrome and was similarly diagnosed. MNGIE diagnosis is important to establish to avoid unnecessary invasive testing for gastrointestinal, ophthalmological, and neurological symptoms and to ensure patients receive appropriate nutritional and genetic counselling. Gene therapy offers a potential future therapy for patients with this condition.

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report

“…Farahvash et al . reported that, among 102 patients with MNGIE, the median age of death was 35 years (range 14–54 years) [ 14 ].…”

“…Halter et al documented that retrospective research on 24 patients who had HSCT for MNGIE syndrome revealed a survival rate of 37.5% after an average followup of almost 4 years [13]. Farahvash et al reported that, among 102 patients with MNGIE, the median age of death was 35 years (range 14-54 years) [14].…”

Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease

“…Although Stargardt disease occurs predominantly in young adults, a late-onset form has also been described (Alsberge & Agarwal, 2022). An argument for a contribution of the ABCA4 variant is that several other MNGIE patients carrying TYMP variants had normal vision and normal fundus examination (Farahvash et al, 2021). Did the parents also have the ABCA4 variant?…”