King-Denborough syndrome: report of two Brazilian cases
Arq. neuropsiquiatr
; Arq. neuropsiquiatr;60(3B): 739-741, Sept. 2002. ilus
Article
em En
| LILACS
| ID: lil-325487
Biblioteca responsável:
BR1.1
RESUMO
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Anormalidades Múltiplas
/
Hipertermia Maligna
/
Doenças Musculares
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Child
/
Humans
/
Infant
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arq. neuropsiquiatr
Assunto da revista:
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil