MELAS Syndrome - Report of Two Patients, and Comparison with Data of 24 Patients Derived from the Literature
Abstract We present two unrelated MELAS patients, and compare them with 24 patients derived from the literature. In most patients the stroke-like features of the MELAS syndrome occur late in the course of the disease. The diagnosis is based on characteristic clinical symptoms, presence of lactic aci...
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Veröffentlicht in: | Neuropediatrics 1991-02, Vol.22 (1), p.10-14 |
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Hauptverfasser: | , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Abstract
We present two unrelated MELAS patients, and compare them with 24 patients derived from the literature. In most patients the stroke-like features of the MELAS syndrome occur late in the course of the disease. The diagnosis is based on characteristic clinical symptoms, presence of lactic acidemia, mitochondriopathy in muscle, and low density lesions on cerebral CT, most frequently occurring in the posterior and parieto-temporal regions. In some cases, a metabolic defect could not be demonstrated, in other cases a partial deficiency of various respiratory chain enzymes was found. |
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ISSN: | 0174-304X 1439-1899 |
DOI: | 10.1055/s-2008-1071408 |