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Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients
Gökçen Çoban1, Savaş Göktürk, Erkan Yildirim
1Department of Radiology, Başkent University School of Medicine, Konya, Turkey. drgokcencoban@gmail.com
Abstract:
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. We aimed to raise awareness in radiologists regarding this difficult-to-diagnose syndrome, which occurs in the presence of coexistent gastrointestinal dysmotility, cachexia, and neurologic manifestations. We report imaging and clinical findings of three patients with MNGIE. Our findings indicate that early diagnosis of the disease, together with the timely treatment of acute intercurrent illnesses, may retard the progression of MNGIE.
Insights
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disorder. Early diagnosis and treatment can help slow its progression.
Area of Science:
- Radiology
- Genetics
- Neurology
Background:
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal recessive disorder.
- It presents with multisystemic symptoms including ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.
Observation:
- Radiologists face challenges in diagnosing MNGIE due to its complex presentation.
- This study reports on the clinical and imaging findings of three MNGIE patients.
Findings:
- MNGIE diagnosis requires recognizing a combination of gastrointestinal, cachectic, and neurological symptoms.
- Imaging plays a crucial role in identifying characteristic features of MNGIE.
Implications:
- Raising radiologist awareness can lead to earlier MNGIE diagnosis.
- Timely diagnosis and management of intercurrent illnesses may impede disease progression.
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