Muehlenberg, Klaus and Fiedler, A. and Schaumann, I. and Mueller-Felber, W. and Wiedmann, K. H. (2002) Intestinal pseudoobstructions and gastric necrosis in mitochondrial myopathy. DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 127 (12). pp. 611-615. ISSN 0012-0472
Full text not available from this repository. (Request a copy)Abstract
History and clinical findings: A 24-year-old female patient suffered for 4 months from recurrent abdominal pain, vomiting and diarrhea. Signs of an acute abdomen were the initial reason for admitting the patient to our hospital. The slim, pale patient had a complete bloated abdomen. Neurological status was normal. Investigations, treatment and course: Radiographic examination showed a paralytic ileus with a megacolon. The recurrent abdominal symptoms were due to a covered perforation of the stomach. This was shrunken, scarred and had to be resected. Further intestinal pseudoobstructions were accompanied by substantial exsudations in the lungs, intestines and abdomen. At this time mutism like behavior patterns and an ophthalmoplegia appeared. Leukoencephalopathy in brain MRI scans and increased liquor-lactate suggested mitochondrial myopathy. Diagnosis: The diagnosis of a mitochondrial myopathy was confirmed by increased liquor-lactate level, muscle biopsy with ragged-red fibers as well as abnormal mitochondrias and molecular-genetic investigations (mtDNA point mutation A3243G). Associations to MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MNGIE (mitochondrial neuro-gastrointestinal encephalomyopathy) syndrome are discussed. Conclusions: Unclear recurrent gastrointestinal symptoms even in the absence of neurological changes may reflect a mitochondrial disease. This applies especially to young patients with recurrent anorexia, vomiting and pseudoobstruction. In case of additional symptoms like ophthalmopathy, deafness, diabetes mellitus or signs of a MELAS syndrome the search for a mitochondrial system disorder is mandatory.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GASTROINTESTINAL SYMPTOMS; CHROMOSOME; MUTATIONS; DISORDER; DISEASES; MNGIE; GENE; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 03 Nov 2021 10:44 |
| Last Modified: | 03 Nov 2021 10:44 |
| URI: | https://pred.uni-regensburg.de/id/eprint/40465 |
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