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Osteopetrosis in children

S A al-Rasheed1, O al-Mohrij, N al-Jurayyan

  • 1Department of Paediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia.

International Journal of Clinical Practice
|April 16, 1998
PubMed
Summary
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Autosomal recessive osteopetrosis in Arab children presents with varied clinical features, including metabolic acidosis in most cases. Early multidisciplinary intervention is crucial for managing this progressive bone disorder.

Area of Science:

  • Pediatrics
  • Genetics
  • Metabolic Bone Diseases

Background:

  • Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder affecting bone resorption.
  • This study focuses on the clinical presentation and associated conditions of ARO in Arab children in Saudi Arabia.

Purpose of the Study:

  • To describe the clinical spectrum of autosomal recessive osteopetrosis in a cohort of Arab children.
  • To identify associated conditions and risk factors, such as parental consanguinity and metabolic acidosis.
  • To emphasize the need for early, multidisciplinary management.

Main Methods:

  • Retrospective case series analysis of 28 Arab children diagnosed with ARO over a 10-year period.
  • Clinical data including presenting symptoms, associated metabolic defects, and family history were reviewed.

Related Experiment Videos

  • Comparison of clinical features between patients with and without metabolic acidosis.

    • Main Results:

    • The study identified 18 children (64%) with ARO and metabolic acidosis, likely due to renal tubular defects.
    • Nine children (32%) presented with the malignant infantile form, and one had a mild, delayed-onset form.
    • Parental consanguinity was noted in 56% of patients with acidosis and 40% without.
    • Common features included somatic/psychomotor retardation and bone fractures.
    • Acidosis group: higher incidence of dental caries, cerebral calcification, optic atrophy.
    • Non-acidosis group: higher incidence of anemia, hepatosplenomegaly, deafness.

    Conclusions:

    • Autosomal recessive osteopetrosis in this cohort exhibits diverse clinical manifestations, with metabolic acidosis being a frequent comorbidity.
    • Parental consanguinity is prevalent, suggesting a genetic predisposition.
    • The distinct clinical profiles associated with acidosis warrant specific diagnostic and management considerations.
    • Optimal rehabilitation necessitates an early, comprehensive, multidisciplinary approach for affected children.