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

• Lee SJ
• Lee DW
• Kim WD

• KMID: 2502090
• DOI: http://doi.org/10.5385/nm.2020.27.1.26

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

Figure

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  Figure 1. Chest X-ray showing shortening of the ribs (arrows).

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  Figure 2. Skull X-ray showing dysplasia throughout the skull. (A) Skull anteroposterior, (B) skull lateral view.

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  Figure 3. Skeletal X-ray showing cupping of epiphysis of the long bone of the limbs. (A) Right humerus, (B) left humerus, (C) right radius and ulna, (D) left radius and ulna, and (E) both femurs.

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