Ann Pediatr Endocrinol Metab.  2023 Dec;28(4):312-317. 10.6065/apem.2244294.147.

Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia

• Lee D
• Park SY
• Kim HS
• Kang S

• KMID: 2549326
• DOI: http://doi.org/10.6065/apem.2244294.147

Abstract

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.

Keyword

Growth disorders; Hypophosphatasia; Alkaline phosphatase

Figure

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  Fig. 1. A heterozygous mutation in the ALPL gene, c.979T>C (p.Phe327Leu).

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  Fig. 2. Humerus radiographs showing a right humerus supracondylar fracture at 3 years 11 months of age (white arrow).

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