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[Bone changes in homocystinuria in childhood]

O Tamburrini, A Bartolomeo-De Iuri, G Andria

    La Radiologia Medica
    |December 1, 1984
    PubMed

    Insights

    Homocystinuria, a metabolic disorder, causes significant skeletal abnormalities in children. Roentgenological evaluation revealed widespread bone changes, particularly osteoporosis, in the spine and growth areas.

    Area of Science:

    • Medical Genetics
    • Pediatric Radiology
    • Biochemical Disorders

    Background:

    • Homocystinuria is an autosomal recessive disorder of sulfur amino acid metabolism.
    • It is clinically characterized by lens dislocation, intellectual disability, skeletal abnormalities, and thromboembolic events.

    Purpose of the Study:

    • To radiologically evaluate and characterize skeletal abnormalities in pediatric patients with homocystinuria.

    Main Methods:

    • Retrospective analysis of roentgenological findings in 12 pediatric patients diagnosed with homocystinuria.
    • Focus on identifying specific bone changes and their locations.

    Main Results:

    • Widespread skeletal abnormalities were detected in all patients.
    • Key findings include osteoporosis, dolichostenomelia, arachnodactyly, and calcific spicules in wrist physes.
    • Abnormalities were most prominent in the dorsolumbar spine and epi-metaphyseal growth areas.

    Conclusions:

    • Cystathionine synthase deficiency (homocystinuria) leads to significant and widespread skeletal manifestations in children.
    • Radiological assessment is crucial for identifying these bone changes, aiding in diagnosis and management.

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