Navegando por Palavras-chave "paralisia periódica"

Agora exibindo 1 - 2 de 2
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities
    (Academia Brasileira de Neurologia - ABNEURO, 2006-09-01) Tengan, Célia Harumi [UNIFESP]; Antunes, Antonio C. [UNIFESP]; Bauab, José R. [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Manzano, Gilberto Mastrocola [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Paralisia periódica: estudo anátomo-patológico do músculo esquelético de 14 pacientes
    (Academia Brasileira de Neurologia - ABNEURO, 1994-03-01) Tengan, Célia Harumi [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Morita, Maria Da Penha Ananias [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease. We analysed 17 muscle biopsies from 14 patients with periodic paralysis (14 hypokalemic, 2 hyperkalemic). All of them showed at least one histological abnormality. Fourteen specimens showed vacuoles that were peripheral, single, frequent and preferentially found in type I fibers. Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease. Ten biopsies showed tubular aggregates, specially on the patients with frequent crises or long term disease. A second biopsy was done in three patients and in two we observed a worsening of the histopathologic picture. One patient manifested interictal weakness with evident myopathic changes on the muscle biopsy. Nonspecific changes were found in variable degrees in 15 biopsies. Our study shows that vacuoles and tubular aggregates are frequent changes in periodic paralysis and therefore helpful for the diagnosis. Important myopathic findings in the muscle biopsy suggest a permanent myopathy which probably develops after severe crises or long term disease.