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Updated: May 21, 2026
05:58
Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Campomelic dysplasia and malignant hyperthermia.
Andreia Barros1, Filomena Teixeira, Maria Carmo Camacho
1Department of Pediatrics, Hospital Nélio Mendonça, Funchal, Portugal. asofiabarros@gmail.com
BMJ Case Reports
|June 14, 2012
Summary
Campomelic dysplasia (CD) is a rare skeletal disorder. This case highlights a fatal occurrence of malignant hyperthermia in a child with CD, emphasizing the need for awareness.
Area of Science:
- Pediatric Genetics
- Skeletal Dysplasias
- Anesthesiology
Background:
- Campomelic dysplasia (CD) is a severe, rare skeletal dysplasia often fatal in infancy.
- CD presents with characteristic long bone bowing and multiple congenital anomalies.
- Malignant hyperthermia (MH) is a rare, life-threatening pharmacogenetic disorder of skeletal muscle.
Observation:
- A male infant diagnosed with Campomelic dysplasia presented with multiple congenital anomalies.
- The patient experienced an episode of malignant hyperthermia.
- The child succumbed to malignant hyperthermia at 16 months of age.
Findings:
- This case documents a rare association between Campomelic dysplasia and malignant hyperthermia.
- The clinical course underscores the potential severity of MH in patients with skeletal dysplasias.
- Early recognition and management strategies for MH in this population are critical.
Implications:
- Increased vigilance for malignant hyperthermia is warranted in infants with Campomelic dysplasia.
- Further research into the genetic and physiological links between CD and MH may improve patient outcomes.
- This case highlights the importance of multidisciplinary care for rare skeletal disorders.
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