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Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
R Schiffmann1, E Lahat, A Schechter
1Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
Insights
Recurrent febrile myalgia in a child was linked to carnitine palmitoyltransferase deficiency (CPTD). This metabolic disorder highlights the need for testing even without myoglobinuria.
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Recurrent febrile myalgia can present with diverse symptoms including fever, vomiting, and pharyngitis.
- The absence of myoglobinuria or exercise-induced muscle pain can complicate diagnosis.
- Identifying underlying metabolic causes is crucial for effective management.
Observation:
- A 7 1/2-year-old girl experienced severe, recurrent myalgia since infancy, accompanied by periodic fever, vomiting, and pharyngitis.
- Diagnostic workup revealed no myoglobinuria or exercise-induced muscle pain.
- Carnitine palmitoyltransferase deficiency (CPTD) was identified in leukocytes, fibroblasts, and muscle tissue.
Findings:
- Carnitine palmitoyltransferase deficiency (CPTD) was confirmed as the underlying cause of the patient's symptoms.
- The study demonstrates that CPTD can manifest as recurrent febrile myalgia without the typical presentation of myoglobinuria.
- Leukocyte, fibroblast, and muscle biopsies were instrumental in diagnosing this metabolic myopathy.
Implications:
- This case underscores the importance of considering metabolic etiologies, such as CPTD, in pediatric patients with recurrent febrile myalgia.
- Diagnostic approaches for myalgia should include metabolic investigations, particularly when classic indicators like myoglobinuria are absent.
- Early identification of CPTD allows for timely intervention and management of this genetic metabolic disorder.
Abstract:
A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine palmitoyltransferase deficiency (CPTD) in leukocytes, fibroblasts and muscle. This case exemplifies the importance of looking for an associated metabolic etiology of recurrent febrile myalgia even in the absence of myoglobinuria.