King-Denborough Syndrome: report of two Brazilian cases.

Abstract

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.

• Authors: Umbertina Conti Reed, Maria Bernardete Dutra Resende, Lúcio Gobbo Ferreira, Mary Souza Carvalho, Aron Diament, Milberto Scaff, Suely Kazue Nagahashi Marie
• Journal: Arquivos de neuro-psiquiatria (Arq Neuropsiquiatr) Vol. 60 Issue 3-B Pg. 739-41 (Sep 2002) ISSN: 0004-282X [Print] Germany
• PMID: 12364941 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, epidemiology)
• Brazil (epidemiology)
• Child
• Facies
• Follow-Up Studies
• Humans
• Infant
• Male
• Malignant Hyperthermia (epidemiology, prevention & control)
• Muscular Diseases (diagnosis, epidemiology)
• Syndrome