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Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency

W A Cumming, A Ohlsson

    Radiology
    |November 1, 1985
    PubMed

    Insights

    Carbonic anhydrase II deficiency causes intracranial calcification in children, appearing after birth and progressing over time. This finding aids in diagnosing this rare genetic disorder.

    Area of Science:

    • Pediatric Radiology
    • Neurogenetics
    • Metabolic Disorders

    Background:

    • Carbonic anhydrase II deficiency is a rare autosomal recessive syndrome.
    • Key features include osteopetrosis, renal tubular acidosis, developmental retardation, and intracranial calcification.
    • Intracranial calcification pattern resembles that seen in hypoparathyroidism.

    Purpose of the Study:

    • To evaluate the characteristics of intracranial calcification in children with carbonic anhydrase II deficiency.
    • To describe the onset, progression, and location of calcification.

    Main Methods:

    • Retrospective review of radiographs from 18 children diagnosed with carbonic anhydrase II deficiency.
    • Assessment of intracranial calcification patterns, including location and age of onset.

    Main Results:

    • Intracranial calcification was observed in children with carbonic anhydrase II deficiency.
    • Calcification was located in the gray matter of the cortex and basal ganglia.
    • Calcification was not congenital, appearing between 2-5 years of age and increasing with age.

    Conclusions:

    • Intracranial calcification is a significant radiological finding in carbonic anhydrase II deficiency.
    • The pattern and age-dependent progression of calcification are characteristic.
    • Radiographic assessment aids in the diagnosis and understanding of this syndrome.

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