2022
DOI: 10.1186/s13256-022-03582-6
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Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 

Abstract: Background Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions… Show more

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Cited by 2 publications
(10 citation statements)
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“…Workup revealed dissociated sensory disturbances, ophthalmoparesis, gastrointestinal reflux, gastroparesis, demyelinating, sensorimotor neuropathy, myopathy, and extensive leukoencephalopathy [1]. The study is compelling but raises concerns that require further discussion.The main limitation of the study is that the diagnosis "MNGIE" was established without documentation of a causative mutation [1]. There was also no measurement of pyridine or dihydropyridine in the urine.…”
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confidence: 94%
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“…Workup revealed dissociated sensory disturbances, ophthalmoparesis, gastrointestinal reflux, gastroparesis, demyelinating, sensorimotor neuropathy, myopathy, and extensive leukoencephalopathy [1]. The study is compelling but raises concerns that require further discussion.The main limitation of the study is that the diagnosis "MNGIE" was established without documentation of a causative mutation [1]. There was also no measurement of pyridine or dihydropyridine in the urine.…”
mentioning
confidence: 94%
“…Clinical manifestations of the obviously mitochondrial disorder (MID) included nonradiating, postprandial epigastric pain, bilious emesis, weight loss for 3 months, and lower limb weakness for 3 weeks [1]. Workup revealed dissociated sensory disturbances, ophthalmoparesis, gastrointestinal reflux, gastroparesis, demyelinating, sensorimotor neuropathy, myopathy, and extensive leukoencephalopathy [1]. The study is compelling but raises concerns that require further discussion.The main limitation of the study is that the diagnosis "MNGIE" was established without documentation of a causative mutation [1].…”
mentioning
confidence: 99%
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