Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

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Tytuł oryginału: Psychiatric symptoms in a patient with the clincial features of MELAS.
Autorzy: Kiejna Andrzej, DiMauro Salvatore, Adamowski Tomasz, Rymaszewska Joanna, Leszek Jerzy, Pąchalska Maria
Źródło: Med. Sci. Monitor 2002: 8 (7) s.CS66-CS72, il., tab., bibliogr 18 poz.
Sygnatura GBL: 313,278

Hasła klasyfikacyjne GBL:
  • psychiatria i psychologia
  • neurologia

    Typ dokumentu:
  • tytuł obcojęzyczny
  • praca kazuistyczna

    Wskaźnik treści:
  • ludzie
  • dorośli 19-44 r.ż.
  • płeć męska

    Streszczenie angielskie: Background: This article presents a case study of a 32-year-old Polish male patient clincally diagnosed with the MELAS syndrome, the second such patient reported in this country. Case report: The patient presents with a long history of neurological episodes, consisting of acute neurological deficitis suggestive of CVA with no evidence of focal lesion and very rapid remission of symptoms. These episodes began when the patient was 19 years old and have recurred since that time at intervals of 1-5 years. A recent psychiatric episode with unusual visual hallucinations brought the case to the attention of the present authors, who initiated further diagnostic testing. A muscle biopsy revealed ragged red fibers. Conclusions: The features in this case meet the diagnostic criteria for a clincial diagnosis of MELAS, pending confirmation of a pathogenic mutation.

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    Tytuł oryginału: The course of vision disturbances in a patient with the MELAS syndrome.
    Autorzy: Pachalska Maria, DiMauro Salvatore, Formińska-Kapuścik Maria, Kurzbauer Henryk, Talar Jan, MacQueen Bruce Duncan, Pawlicka Iwona, Jeleńska-Szyguła Irena
    Źródło: Med. Sci. Monitor 2002: 8 (2) s.CS11-CS20, il., tab., bibliogr. 36 poz.
    Sygnatura GBL: 313,278

    Hasła klasyfikacyjne GBL:
  • neurologia

    Typ dokumentu:
  • praca kazuistyczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dorośli 19-44 r.ż.
  • płeć żeńska

    Streszczenie angielskie: Background: This article describes the neuropsychological and ophthalmic symptoms presented by a patient with MELAS, a mitochondrial cytopathy. This rare disease is characterized by a remitting-relapsing course against the background of a slowly progressive degenerative process. Case report: The patient is a 22-year-old Polish female, with initial onset of symptoms in 1994; the clinical diagnosis of MELAS was established in 1998, and confirmed in 2000 by the discovery of a novel mtDNA mutation. Her visual acuity fluctuates from near-normal to near-blindness, often changing dramatically within a matter of weeks; the visual field has more or less steadily narrowed to lunate. Visual evoked potentials show sporadic distrubances, while the nerve fiber layer shows significant attenuation. The evidence points to a complex etiology, involving both cortical damage and attenuation of the optic nerves and neural pathways. A similar two phase pattern - episodic disturbances with rapid spontaneous revovery against a background of progressive deterioration - occurs in neuropsychological testing, which reveals progressive dementia and episodic aphasia. Conclusions: The peculiiar pathomechanism of MELAS results in simultaneous insults to various parts of the central and peripheral nervous systems, creating the complex and highly variable pattern seen in this patient. In clinical practice care should be taken not to overlook the possible significance of such a pattern appearing in various systems and on varying levels.

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