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Joseph Junewick, MD FACR
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Hypophosphatasia

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 7 years ago
Updated: over 6 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

6 year old female with short stature.


Case Images


Diagnosis

Hypophosphatasia

Clinical Notes

Alkaline phosphatase 47 IU/L (normal 100-300 IU/L)

Findings

CR – 1) Craniosynostosis with secondary findings of accentuated convolutional markings and enlarged sella tursica, 2) Metaphyseal flaring, irregular periphyseal regions with large “chewed out” metaphyseal lucencies, 3) Osteopenia with thin cortices, and 4) Mildly bowed tibias.

MR – Axial T2 images of the orbits show intraosseous invagination of cerebral tissue (related to increased intracranial pressure and osteomalacia).

Discussion

Hypophosphatasia is related to insufficient tissue-nonspecific alkaline phosphatase which leads to the inability to process phosphate compounds. As a result, cartilage and osteoid mineralization is deficient. On laboratory evaluation, alkaline phosphatase is low and urinary phospoethanolamine is high.

Phenotypically, 4 variations of hypophosphatasia are known: perinatal, infantile, childhood and adult. Perinatal and infantile forms are autosomal recessive and often fatal related to respiratory insufficiency and myelophhthisic anemia. Childhood and adult forms are autosomal dominant and often present with extremity pain stiffness and weakness.

Perinatal form is characterized by severe lack of mineralization (even more pronounced than osteogenesis imperfecta). With the infantile form, metaphyseal demineralization predominates with a non-uniform rachitic pattern; localized “chewed out” segments of the metaphyses are a classic finding. Craniosynostosis is common with prominent convolutional markings and enlarged sella tursica. The adult pattern is similar to osteomalacia with coarsened trabeculae, Looser’s zones (although Looser’s zones are typically lateral in hypophosphatasia compared to osteomalacia where they are usually medial)and insufficiency fractures.

Reference

Shore RM. Metabolic Bone Disease. Caffey’s Pediatric Diagnositic Imaging. Mosby-Elsivier 11th Ed (2008).

Contributor

Anne Oostendorp, MD



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