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[Primary hyperparathyroidism revealed by pseudomyopathia].

B Guérin1, R Boumpoutou, M Bastin

  • 1Service de pédiatrie et réanimation pédiatrique, 4, boulevard Hauterive, 64046 Pau Cedex. benedicte.guerin@ch-pau.fr

Annales D'Endocrinologie
|June 17, 2005
PubMed
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This case study highlights primary hyperparathyroidism in a child presenting with muscle pain and weakness. Early diagnosis and treatment, including surgery, resolved the phosphocalcium imbalance and improved symptoms.

Area of Science:

  • Pediatric Endocrinology
  • Neuromuscular Disorders
  • Skeletal Dysplasias

Background:

  • Delayed development and appendicitis in an 11-year-old boy preceded neuromuscular symptoms.
  • Initial investigations including blood tests, MRI, and EMG were inconclusive for muscle disease.

Observation:

  • The child developed exercise-induced lower limb muscle pain, difficulty with mobility, and increased reflex activity.
  • Worsening myopathy gait and hyperlordosis prompted further investigation.
  • Subsequent tests revealed hypercalcemia, hypercalciuria, and hypophosphatemia.

Findings:

  • Primary hyperparathyroidism was diagnosed due to persistently high serum calcium and abnormal parathormone levels.
  • Pathology confirmed principal cell hyperplasia of the parathyroid glands.

Related Experiment Videos

  • Genetic testing for MEN1/MEN2a and the menine gene showed no mutations.

    • Implications:

    • This case underscores the importance of considering endocrine disorders, particularly primary hyperparathyroidism, in pediatric patients with unexplained muscle dysfunction.
    • Abnormal phosphocalcium regulation can manifest as significant neuromuscular symptoms.
    • Surgical parathyroidectomy effectively normalized biochemical parameters and improved clinical outcomes.