Doctors say that this is the first reported case of Mitochondrial Neurogastrointestinal Encephalomyopathy being managed surgically in India.
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Surgical management of a chronic genetic digestive disorder in a private hospital in the city has given hope of a normal life to a 12-year-old girl from Koppal district in north Karnataka.
Ever since she was a baby, the girl — Ruchika (name changed) — has been experiencing gastrointestinal (GI) symptoms, including greenish vomiting, upper abdominal fullness, constipation, and failure to gain weight. Despite multiple evaluations and treatments at multiple centres, her symptoms persisted, and no definitive diagnosis could be made. Owing to the complex gastrointestinal symptoms the girl’s nutritional state was highly compromised. At 12 years of age, her body weight was just 15 kg.
She was then brought to Manipal Hospitals, Old Airport Road, for evaluation and her condition was categorised as chronic gastrointestinal dysfunction and diagnosed as Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
Following an evaluation by a multidisciplinary team of doctors led by Srikanth K.P., Consultant – Paediatric Gastroenterology and Hepatology, the girl underwent a series of tests, which revealed a grossly dilated stomach and duodenum, but without any mechanical obstruction, suggesting it could be a pseudo-obstruction.
Nerve conduction studies further showed a peripheral nerve disorder called demyelinating sensorimotor polyneuropathy, and an MRI of the brain revealed a tiger-like shape (tigroid appearance). Urine Gas Chromatography-Mass Spectrometry (GC-MS) showed elevated thymidine levels. Genetic testing confirmed the diagnosis of MNGIE.
Elaborating on the case, Dr. Srikanth said Mitochondrial Neurogastrointestinal Encephalopathy is a rare genetic disorder caused by mutations in the TYMP gene, leading to thymidine phosphorylase enzyme deficiency. “This results in mitochondrial DNA damage and progressive gastrointestinal dysmotility, neuropathy, and cachexia. The disease is associated with Mitochondrial DNA Depletion Syndrome with limited therapeutic options,” he said.
Given the severity of her gastrointestinal symptoms and progressive nutritional decline, doctors in consultation with international experts planned a surgical intervention.
In August last year, the girl (who was aged 11 then) underwent sleeve gastrectomy to reduce gastric volume, gastrostomy for decompression, and placement of a feeding gastrojejunostomy (GJ tube) to bypass the non-functioning upper GI tract, Dr. Srikanth said.
Claiming that it is the first reported case of MNGIE managed surgically in India, the doctor said post-operatively, the girl’s vomiting reduced significantly, and her nutritional status began to improve.
“She gained two kg over the last few months, reaching a weight of 17 kg. Luckily, she tolerated GJ feeds well and was able to take minimal oral intake without major discomfort. She was also started on a mitochondrial cocktail including thiamine, riboflavin, CoQ10, and biotin. At six months follow-up now, she continues to show clinical improvement, minimal GI symptoms and a stable weight gain, currently weighing 18.5kg,” the doctor added.
Published – April 14, 2025 09:56 pm IST
