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Benign prenatal hypophosphatasia: a treatable disease not to be missed

Masaki Matsushita1, Hiroshi Kitoh, Toshimi Michigami

  • 1Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

Pediatric Radiology
|October 23, 2013
PubMed

Insights

A rare benign form of prenatal hypophosphatasia, characterized by bone bowing, can present prenatally but improve postnatally. Genetic testing confirmed mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Prenatal bowing of long bones is typically linked to severe skeletal dysplasias.
  • Differentiating benign from severe conditions is crucial for appropriate management.

Observation:

  • A case is presented of a newborn with significant long bone bowing and shortening.
  • Fetal imaging revealed normal skeletal mineralization and body circumferences, contrasting with limb anomalies.

Findings:

  • Biochemical tests showed decreased serum alkaline phosphatase and elevated urine phosphoethanolamine.
  • Genetic analysis identified compound heterozygous mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
  • These findings confirmed a diagnosis of benign prenatal hypophosphatasia.

Implications:

  • This case highlights benign prenatal hypophosphatasia as a differential diagnosis for congenital long bone bowing.
  • Recognizing this milder form can prevent misdiagnosis and unnecessary interventions for severe skeletal dysplasias.

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