Doctors say that this is the first case reported by mitochondrial neuroguestinal encephalomyopathy that is surgically in India. | Photo credit: Istock/Morsa images
The surgical management of a chronic genetic digestive disorder in a private hospital in the city has given the hope of a normal life to a 12 -year -old girl from the Koppal district in northern Karnataka.
Since she was a baby, the girl, Ruchika (name changed), has been experiencing gastrointestinal symptoms (GI), which include greenish vomiting, upper abdominal fullness, constipation and lack of weight. Despite multiple evaluations and treatments in multiple centers, their symptoms persisted and a definitive diagnosis could not be made. Due to the complex gastrointestinal symptoms, the nutritional status of the girl was very committed. At 12 years of age, his body weight was only 15 kg.
He was then brought to manipal hospitals, Old Airport Road, for his evaluation and condition he classified as chronic gastrointestinal dysfunction and diagnosed as mitochondrial neuroguestinal encephalypathy (MNGIE).
After an evaluation carried out by a multidisciplinary medical team led by Srikanth KP, consultant – pediatric gastroenterology and hepatology, the girl underwent a series of tests, which revealed a bean mechanic, suggestive, but stitum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum, butstum Butstum, butstum, butstum, butstum, but stum. A pseudo-obstruction.
Nervous driving studies also showed a peripheral nervous disorder called demyelinizing sensoriomotor polyneuropathy, and a magnetic resonance of the brain revealed a form of tiger (Tigroid appearance). Gas chromatography Urine Mass spectrometry (GC-MS) showed high timidine levels. Genetic tests confirmed the diagnosis or mngie.
Elaborating in the case, Dr. Srikanth said that mitochondrial neurogastinal encephalopathy is a strange genetic disorder caused by mutations in the Tymp gene, which leads to the timidine enzyme deficiency phosphorylase. “This results in mitochondrial DNA damage and progressive gastrointestinal dismotility, neuropathy and cocaxia. The disease is associated with mitochondrial DNA exhaustion syndrome with limited therapeutic options,” he said.
Given the seriousness of their gastrointestinal symptoms and their progressive nutritional decrease, doctors in consultation with international experts planned surgical intervention.
In August of last year, the girl (who was 11 years old) underwent a manga gastrectomy to reduce gastric volume, gastrostomy for decompression and placement of a feeding gastrojunostomy (GJ tube) to avoid the superior non -functioning IG. Srikanth said.
Stating that it is the first case reported by Mngie surgically managed in India, the doctor said after the operation, the girl’s vomiting were significantly reduced and her nutritional status to improve.
“He obtained two kg in recent months, reaching a weight of 17 kg. Fortunately, GJ tolerated well and could take a great minimum discomfort of oral intake. Foller of follow -up now, continues to show a clinical improvement, minimal gastrointestinal symptoms and stable weight gain, currently weighs 18.5 kg,” the doctor added.
Published – April 14, 2025 09:56 PM IST
