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 like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials. Case presentation We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations. Conclusions As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy.

Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B

“…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.…”

“…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].…”

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Letter to the EditorWith interest we read the article by Jiang et al about a 23-year-old female with mitochondrial neurogastrointestinal encephalopathy (MNGIE) [1]. The diagnosis MNGIE was established solely on the basis of the clinical presentation without documentation of a causative mutation [1].

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Letter to the EditorWith interest we read the article by Jiang et al about a 23-year-old female with mitochondrial neurogastrointestinal encephalopathy (MNGIE) [1]. The diagnosis MNGIE was established solely on the basis of the clinical presentation without documentation of a causative mutation [1]. 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].

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“…The diagnosis MNGIE was established solely on the basis of the clinical presentation without documentation of a causative mutation [1]. 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].…”