Neonatal Med.  2020 Feb;27(1):26-30. 10.5385/nm.2020.27.1.26.

Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation

Affiliations
  • 1Department of Pediatrics, Daegu Fatima Hospital, Daegu, Korea

Abstract

Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day. Other symptoms included res piratory failure, requiring the use of a mechanical ventilator. Physical exami na tion revealed a large bulging anterior fontanelle, soft skull bone, and radial devia tion of both wrists. Laboratory examination showed normal serum calcium, low para thyroid hormone, normal 25-hydroxy vitamin D, and severely low alkaline phos phatase levels. Skeletal X-ray revealed dysplasia of the skull and cupping of the epiphysis of the limbs. Two heterozygous mutations (c.1052A>G, c.1559delT) of the ALPL gene were identified by Sanger sequencing. Thus, we report a case of confirmed lethal perinatal hypophos phatasia in Korea.

Keyword

Hypophosphatasia; ALPL; Alkaline phosphatase; Lethal perinatal hypophosphatasia
Full Text Links
  • NM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr