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KMID : 1036920230280040312
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Annals of Pediatric Endocrinology & Metabolism
2023 Volume.28 No. 4 p.312 ~ p.317
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Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia
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Lee Dong-Hyun
Park So-Yun
Kim Heung-Sik
Kang Seok-Jin
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Abstract
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Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP. A 3 ½-year-old boy presented with short stature, transient hypercalcemia, and mild gait disturbance without definite bony deformity. Laboratory examination revealed transient hypercalcemia, normal phosphorous and 25-hydroxy vitamin D levels, and mildly low alkaline phosphatase levels. A targeted next-generation sequencing panel associated with inborn errors of metabolism revealed a pathogenic heterozygous mutation in the ALPL gene, c.979T>C (p.Phe327Leu). When a child visits a hospital with short stature, decreased height velocity, and low alkaline phosphatase level, clinicians should consider the possibility of HPP even if definite skeletal dysplasia is not evident.
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KEYWORD
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Growth disorders, Hypophosphatasia, Alkaline phosphatase
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