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Mitochondrial neurogastrointestinal encephalopathy: a case report.
- Source :
- Egyptian Journal of Radiology & Nuclear Medicine; 7/9/2024, Vol. 55 Issue 1, p1-5, 5p
- Publication Year :
- 2024
-
Abstract
- Background: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with alterations in mitochondrial DNA (mtDNA). The typical age of onset of MNGIE is between the first and second decade of life. Diagnosis requires the presence of several key clinical features: sensorimotor neuropathy, external ophthalmoplegia, ocular ptosis, leukoencephalopathy, and gastrointestinal (GI) dysmotility. Unfortunately, MNGIE diagnosis is very challenging, and patients often undergo multiple diagnostic and surgical operations that are unnecessary. Case presentation: This case is of a 51-year-old male presenting with a 2-year history of limb weakness, GI problems and cachexia. There was also a 1-year history of progressive ptosis and ophthalmoplegia. The patient's uncle and brother had both died from GI-related issues prior to the age of 40. On physical examination, ocular motility was impaired in all directions and there was atrophy and reduction in power in both lower and upper extremities. FLAIR and T2-weighted sequences of brain MRI demonstrated diffuse cerebral white matter hyperintensity (leukoencephalopathy). On discharge, the patient was referred for genetic consultation for bone marrow transplantation and had regular follow-up with a gastroenterology specialist. Conclusion: In patients presenting with chronic progressive ophthalmoplegia, severe gastrointestinal complications, sensorimotor neuropathy and white matter lesions on MRI, it is important to consider investigating for MNGIE. [ABSTRACT FROM AUTHOR]
- Subjects :
- NEUROLOGIC examination
QUADRIPLEGIA
PARASYMPATHOMIMETIC agents
DIFFERENTIAL diagnosis
MITOCHONDRIAL neurogastrointestinal encephalopathy syndrome
BLEPHAROPTOSIS
EXTREMITIES (Anatomy)
MUSCLE diseases
GENETIC counseling
MAGNETIC resonance imaging
MUSCLE weakness
ELECTROMYOGRAPHY
ATROPHY
OCULOMOTOR paralysis
POLYNEUROPATHIES
BONE marrow transplantation
DEMYELINATION
NEURAL conduction
Subjects
Details
- Language :
- English
- ISSN :
- 0378603X
- Volume :
- 55
- Issue :
- 1
- Database :
- Supplemental Index
- Journal :
- Egyptian Journal of Radiology & Nuclear Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 178353857
- Full Text :
- https://doi.org/10.1186/s43055-024-01310-2