Mitochondrial Neurogastrointestinal Encephalopathy: A Case Report from Northeast of Iran

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Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder often misdiagnosed due to its heterogeneous presentation. We describe a 21-year-old man with a long history of episodic nausea and vomiting, weight loss, and intermittent diarrhea since childhood, initially misdiagnosed as Crohn's disease following a colonoscopy-induced perforation. Despite treatment with adalimumab, his gastrointestinal symptoms persisted. Subsequent investigations revealed dilated...

Source: PubMed - neurological misdiagnosis Published 22 Oct 2026 Imported 22 Oct 2026 Relevancy: Not reviewed

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