Case Rep Endocrinol. 2025 Oct 30;2025:9119661. doi: 10.1155/crie/9119661. eCollection 2025.
ABSTRACT
BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by mutation in the tissue nonspecific isoenzyme of alkaline phosphatase (ALP) (TNSALP). Perinatal HPP is the most severe type of HPP, primarily characterized by respiratory distress.
CASE PRESENTATION: A 2-month-old female infant, born to consanguineous parents with intrauterine limb hypoplasia, sustained a clavicular fracture on day one. She was referred and admitted to the neonatal intensive care unit on day 20 of her life due to the development of seizures and respiratory distress. She presented with short limbs, skeletal hypomineralization, thoracic and pulmonary hypoplasia, hypercalcemia, and ALP levels below the limit of detection (LOD). Severe perinatal HPP was confirmed through genetic analysis. Consequently, she was treated with enzyme replacement therapy (ERT) using asfotase alfa.
CONCLUSION: Our case emphasized the need for proper diagnosis of severe perinatal HPP to initiate life-saving ERT after delivery. Cooperation between obstetricians and clinical genetics teams is essential to avoid delayed or misdiagnosis.
PMID:41209397 | PMC:PMC12591811 | DOI:10.1155/crie/9119661
