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PP-052 Growing pains in children can mask a rare disease
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  1. Nato Vashakmadze1,
  2. Natalia Zhurkova2,
  3. Tatiana Privalova1,
  4. Ludmila Mikhaylova2,
  5. Marina Babaykina2,
  6. Leyla Namazova-Baranova1
  1. 1Pirogov Russian National Research Medical University, Moscow, Russian Federation
  2. 2Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation

Abstract

Aim Growing pains are benign and recurrent limb pains that affect children between the ages of 3 and 12. This condition may mask various hereditary diseases, for which early diagnosis is key. Hypophosphatasia, an inherited disorder similar to rickets, has different clinical forms: perinatal, infantile, childhood, adult, and odontohypophosphatasia. The first symptoms in the childhood and adult forms of the disorder are often limb pain, poor exercise tolerance, lower limb deformity, poor posture, and fractures.

Material and Method We examined an 8-year-old patient who had been followed by a dentist since the age of 1.5 years due to early loss of deciduous teeth. Starting at age 3, the patient was found to have a delayed growth rate. Since the age of 4, he has been followed by a rheumatologist with a diagnosis of arthropathy and growing pains due to recurrent lower limb pain, arthralgias, and proximal muscle weakness when squatting and climbing stairs. At age 5, the patient’s alkaline phosphatase level was 61U/L(156–369). Molecular genetic analysis revealed that the patient had a nucleotide sequence variant c.331_332insCCGGCA, p.Thr113Ala114insGlyThr in the ALPL gene in heterozygous state. This variant was also found in heterozygous form in

Results Clinical examination revealed short stature (z-score=1.93), vertical bone resorption and bone loss in the interdental septa, and pronounced lumbar levoscoliosis. The patient‘s alkaline phosphatase level was determined to be below the normal range at 81U/L(156–369).

Conclusions A child complaining of limb pain may be the first symptom of a rare genetic disease. In the presence of arthralgias, it is necessary to conduct a comprehensive examination, taking into account the family history and laboratory tests, including alkaline phosphatase, calcium, phosphorus, vitamin D, creatine kinase, rheumatoid factor, and a complete blood count.

  • Growing pains
  • children
  • Hypophosphatasia
  • alkaline phosphatase

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