Perinatal hypophosphatasia

Authors

  • Wendy Ríos Navarrete Pediatrician, The Pediatric Center, 115 Freetown & St. Thomas St. Belize City, Belize.

Keywords:

perinatal hypophosphatasia, tonic-clonic movements, radiological findings, treatment

Abstract

Perinatal hypophosphatasia is a rare and severe disease associated with a reduction in tissue non-specific alkaline phosphatase synthesis due to a deletion or a mutation of its gene located on chromosome 1. These patients present severe bone demineralization, low levels of alkaline phosphatase and increase of urinary and serum pyrophosphate and phosphoethanolamine. The condition can be lethal in utero or after birth due to inadequate bone support of the chest and skull, although patients
with milder phenotypes can survive until adulthood. A case of a female patient is presented. She was 21 days old, of Mennonite origin, with a history of generalized tonic-clonic movements and irritability from the second day of life. She does not show
improvement with phenobarbital treatment; therefore, x-rays and laboratory tests are indicated. Perinatal hypophosphatasia is confirmed. The patient is stabilized and included in a group of experimental enzymatic treatment in Canada.

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Published

17-10-2023

How to Cite

Ríos Navarrete, W. (2023). Perinatal hypophosphatasia. Belize Journal of Medicine, 2(1), 5–7. Retrieved from https://www.bjomed.org/index.php/bjm/article/view/50

Issue

Vol. 2 No. 1 (2013): January-June

Section

Case Reports

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