期刊论文详细信息
Arquivos de Neuro-Psiquiatria
King-Denborough Syndrome: report of two Brazilian cases
Umbertina Conti Reed1  Maria Bernardete Dutra Resende1  Lúcio Gobbo Ferreira1  Mary Souza Carvalho1  Aron Diament1  Milberto Scaff1  Suely Kazue Nagahashi Marie1 
[1] ,University of São Paulo School of Medicine Clínicas HospitalSão Paulo SP ,Brazil
关键词: King-Denborough syndrome;    congenital myopathy;    malignant hyperthermia;    síndrome de King-Denborough;    miopatia congênita;    hipertermia maligna;   
DOI  :  10.1590/S0004-282X2002000500011
来源: SciELO
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【 摘 要 】

We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License

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