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King-Denborough Syndrome: report of two Brazilian cases
Umbertina Conti Reed1, Maria Bernardete Dutra Resende, Lúcio Gobbo Ferreira
1Department of Neurology, Clínicas Hospital, School of Medicine, University of São Paulo, São Paulo, SP, Brazil. ucontireed@hcnet.usp.br
Insights
King-Denborough syndrome, a rare genetic disorder, involves distinct facial features, skeletal abnormalities, and muscle weakness. Early recognition is crucial due to the risk of malignant hyperthermia.
Area of Science:
- Genetics
- Neuromuscular Disorders
- Pediatrics
Background:
- King-Denborough syndrome is a rare congenital disorder.
- It is characterized by a specific set of dysmorphic features and neuromuscular symptoms.
Observation:
- Two young boys presented with a constellation of dysmorphic facial features, including ptosis, hypertelorism, and micrognathia.
- They also exhibited skeletal anomalies such as pectus excavatum, clinodactyly, and scoliosis, alongside congenital hypotonia and motor development delays.
Findings:
- Muscle biopsy revealed minimal but characteristic changes: fiber size variability, type I fiber predominance and atrophy, and perimysial fibrosis.
- These findings, coupled with the clinical presentation, support the diagnosis of King-Denborough syndrome.
Implications:
- This report marks the first documented cases of King-Denborough syndrome in Brazil.
- Increased awareness is vital for early diagnosis and management, particularly concerning the predisposition to malignant hyperthermia in affected individuals.
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.