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Myophosphorylase B deficiency and malignant hyperthermia
H Isaacs1, M E Badenhorst, C Du Sautoy
1Department of Physiology, Witwatersrand University Medical School, Johannesburg, South Africa.
Muscle & Nerve
|March 1, 1989
Summary
A pediatric patient was evaluated for muscle fatigue and malignant hyperthermia (MH). Investigations led to diagnosing McArdle's disease and confirming MH susceptibility.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Investigating pediatric muscle fatigability requires differential diagnosis.
- Malignant hyperthermia (MH) is a critical concern in anesthetic management.
Observation:
- A 6-year-old boy presented with excessive muscle fatiguability.
- The examination aimed to diagnose potential malignant hyperthermia (MH).
Findings:
- McArdle's disease, a glycogen storage myopathy, was diagnosed.
- The patient was identified as an MH-positive reactor, indicating susceptibility to MH.
Implications:
- This case highlights the importance of considering neuromuscular disorders in pediatric fatigue.
- Simultaneous diagnosis of McArdle's disease and MH susceptibility has significant anesthetic and management implications.