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Tytuł oryginału: Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).
Autorzy: Pronicki Maciej, Sykut-Cegielska Jolanta, Mierzewska Hanna, Tońska Katarzyna, Karczmarewicz Elżbieta, Iwanicka Katarzyna, Bartnik Ewa, Pronicka Ewa
Źródło: Med. Sci. Monitor 2002: 8 (11) s.CR767-CR773, tab., bibliogr. 42 poz.
Sygnatura GBL: 313,278

Hasła klasyfikacyjne GBL:
  • pediatria

    Typ dokumentu:
  • tytuł obcojęzyczny
  • praca kazuistyczna

    Wskaźnik treści:
  • ludzie
  • dzieci 6-12 r.ż.
  • dzieci 13-18 r.ż.
  • płeć męska
  • płeć żeńska

    Streszczenie angielskie: Background: MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies. Material/Methods: We present four children wtih A32343G MELAS mtDNA mutation and give a summary of clinical MELAS symptoms reported in the literauter. Serum lactate elevation, mosaic pattern of COX deficit and decreased activity of complex I and IV in the muscle biopsy were found in all cases. RRFs were recognized in three our of four. Results: The main features seen in all ur patients were poor growth and fatigability with muscle weakness. All presented epileptic jerks of various character, some deformation features (recurrent pretibial and peritarsal edema, large swollen-looking hands and feet, hypertelorism and protruding ears) and some cutaneous lesions( atopic dermatiits, local melanoderma, asymmetric vascular dilatation). Stroke-like episodes, multihormonal hypopituitarism, sensorineural hypoacusis, pigmentary retinal degeneration, intracranial calcification, heart involvement, recurrent vomiting or abdominal pain were seen only in individual cases. THe homonymous hemianopia frequently reported in the literature was not a feature of our patient. One of them suffered from nonspecific sialoadenitis never mentioned in the literature. Conclusion: Morphological, enzymatic and molecular investigations of a muscle biopsy sample should be undertaken to improve early MELAS detection in patients with any multiorgan disease associated with serum lactate elevation.

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