King-Denborough Syndrome: report of two Brazilian cases

Arquivos de Neuro-Psiquiatria

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

【 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】

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