King-Denborough syndrome: report of two Brazilian cases
Arq. neuropsiquiatr
; Arq. neuropsiquiatr;60(3B): 739-741, Sept. 2002. ilus
Article
in En
| LILACS
| ID: lil-325487
Responsible library:
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
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Abnormalities, Multiple
/
Malignant Hyperthermia
/
Muscular Diseases
Type of study:
Observational_studies
/
Prognostic_studies
Limits:
Child
/
Humans
/
Infant
/
Male
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Arq. neuropsiquiatr
Journal subject:
NEUROLOGIA
/
PSIQUIATRIA
Year:
2002
Document type:
Article
Affiliation country:
Brazil
Country of publication:
Brazil