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Two siblings with hypophosphatasia

I Nakanishi, S Masuda, S Katsuda

    Acta Pathologica Japonica
    |July 1, 1980
    PubMed
    Summary
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    This study reports on two siblings with hypophosphatasia, a rare genetic disorder affecting bone mineralization. Findings highlight severe skeletal abnormalities and suggest carrier status in family members.

    Area of Science:

    • Genetics
    • Pediatrics
    • Biochemistry

    Background:

    • Hypophosphatasia is a rare inherited metabolic bone disease characterized by defective bone mineralization.
    • This study investigates a familial case of severe infantile hypophosphatasia.

    Observation:

    • Two siblings presented with severe skeletal abnormalities, including poor bone mineralization and rhizomelic micromelia.
    • Autopsy revealed a small thoracic cage, membranous skull, and poorly ossified bones, consistent with rickets.
    • Microscopic examination showed disturbed enchondral and membranous ossification.

    Findings:

    • Biochemical analysis revealed low serum alkaline phosphatase, high calcium, and normal parathyroid hormone (PTH).
    • Family screening indicated that parents and a brother were carriers of hypophosphatasia.

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  • The study emphasizes the importance of biochemical markers in diagnosing hypophosphatasia.

    • Implications:

    • This case highlights the severe clinical manifestations of hypophosphatasia and its genetic basis.
    • Early diagnosis and genetic counseling are crucial for affected families.
    • Understanding carrier status aids in reproductive planning and management of the disorder.