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Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia

Jurhee Freese1, Erin Greenup1, Bhuvana Sunil1

  • 1Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.

Journal of the Endocrine Society
|June 6, 2020
PubMed

Insights

This study details a rare case of infantile osteopetrorickets in an infant girl. The condition, caused by a TCIRG1 mutation, presented with failure to thrive and blood count abnormalities.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Skeletal Dysplasias

Background:

  • Osteopetrosis is a rare genetic bone disorder.
  • Characterized by impaired osteoclast function and high bone density.
  • Osteopetrorickets results from defective bone resorption and mineralization.

Observation:

  • A rare infantile osteopetrorickets case is presented.
  • An 8-week-old female exhibited failure to thrive, hypophosphatemia, anemia, and thrombocytopenia.
  • Skeletal survey revealed increased bone density and rachitic changes.

Findings:

  • A homozygous pathogenic mutation in the T-cell immune regulator 1 (TCIRG1) gene was identified.
  • This genetic finding confirmed the diagnosis of osteopetrosis.
  • The constellation of symptoms points to a specific genetic cause.

Implications:

  • Highlights the importance of considering osteopetrosis in infants with failure to thrive and cytopenias.
  • Emphasizes the role of genetic testing (TCIRG1) in diagnosing rare skeletal disorders.
  • Underscores the complex presentation of osteopetrorickets, requiring a high index of clinical suspicion.

Keywords:
TCIRG1hypocalcemiahypophosphatemiaosteopetroricketsosteopetrosis

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