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KMID : 1039920200270010026
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Neonatal Medicine
2020 Volume.27 No. 1 p.26 ~ p.30
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Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
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Lee Seung-Jae
Lee Dong-Won
Kim Won-Duck
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Abstract
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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.
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KEYWORD
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Hypophosphatasia, ALPL, Alkaline phosphatase, Lethal perinatal hypophosphatasia
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