Insights
Malignant hyperthermia is a rare inherited condition causing muscle rigidity and acute kidney failure. Early recognition and management are crucial for patient recovery.
Area of Science:
- Genetics and rare diseases
- Pediatric critical care
- Biochemistry and metabolic disorders
Background:
- Malignant hyperthermia is a rare, autosomal dominant inherited disorder.
- Characterized by muscle rigidity, acidosis, elevated creatine kinase, and myoglobinuria.
- Can lead to acute renal failure due to tubular necrosis.
Observation:
- A 10-year-old male presented with hyperthermia, dyspnea, and muscle rigidity.
- Laboratory findings revealed extremely high levels of muscle enzymes and myoglobinuria.
- The patient experienced severe symptoms including somnolence and muscle pain.
Findings:
- Diagnosis of malignant hyperthermia was confirmed by elevated serum creatine kinase and myoglobin in urine.
- Prompt medical intervention led to gradual normalization of clinical and laboratory parameters.
- Complete recovery was observed over a twenty-day period.
Implications:
- Highlights the critical nature of malignant hyperthermia, even in previously healthy children.
- Emphasizes the importance of recognizing MH symptoms, especially during febrile illnesses or anesthesia.
- Underscores the need for timely diagnosis and management to prevent severe complications like renal failure.
Introduction:
Malignant hyperthermia is a rare disease which is mainly an inherited autosomal dominant trait. It is characteristic for muscle rigidity, metabolism or respiratory acidosis, high values of serum creatine kinase. Then appears myoglobinuria which can lead to tubular necrosis and acute renal failure.
Case Outline:
The male child, ten years old, hospitalized because of the high temperature, exhaustion and cough. On the second day of hospitalization, he has hyperthermia (39.8 degrees C), dyspnoea, tachypnoea, was somnolent, occasionally raving, exhausted with the pains in the muscles which were rigid and painfully sensitive. During the night, the urine was dark red, but the diuresis was well. The next day, laboratory analyses showed high values of aspartate aminotransferase (4263 IU/l), alanine aminotransferase (1311 IU/l), lactate dehydrogenase (11787 IU/l), while the values of serum creatine kinase were so high that they could not be registered. The urine analysis showed the negative result on gall colours and haematuria and positive on myoglobin. During the following days, the patient had normal skin temperature, the pains in the muscles were gradually weakened and the urine cleared up. On the third day, the value of creatine kinase was measured and it was 178700 IU/l. During the next two weeks, the clinical finding was gradually normalized while the laboratory values of serum enzyme were gradually normalized only in twenty days.
Conclusion:
Malignant hyperthermia is a serious clinical syndrome which can be found with, until then, a clinically healthy child (without chronic myopathy) and it appears with the high temperature or during the surgical interventions with anaesthetics, which is especially dangerous.
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