Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
Neonatal Medicine
;
: 26-30, 2020.
Artigo
| WPRIM
| ID: wpr-837008
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Revista:
Neonatal Medicine
Ano de publicação:
2020
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS