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Neonatal form of hypophosphatasia. A case report
G Tekinalp1, B Gürakan, S Yalçin
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Insights
Hypophosphatasia, a rare metabolic disorder, causes skeletal issues due to low alkaline phosphatase. This report details a severe case with lung hypoplasia, highlighting the need for early detection and prenatal diagnosis.
Area of Science:
- Genetics and Metabolism
- Pediatric Diseases
- Inborn Errors of Metabolism
Background:
- Hypophosphatasia is a rare inherited metabolic disorder affecting approximately 1 in 100,000 individuals.
- It is characterized by deficient activity of alkaline phosphatase, leading to skeletal abnormalities.
- The condition presents in four clinical forms based on age of diagnosis.
Observation:
- This report describes a case of the most severe form of hypophosphatasia.
- The severe presentation was associated with significant lung hypoplasia.
- The prognosis for this condition is typically lethal, with no current treatment available.
Findings:
- The case highlights the severe skeletal manifestations of hypophosphatasia.
- The co-occurrence of lung hypoplasia underscores the systemic impact of this metabolic defect.
- The lethal prognosis emphasizes the critical need for early identification.
Implications:
- Early detection of index cases is crucial for timely intervention and management.
- Prenatal diagnosis is essential for subsequent pregnancies to allow for informed reproductive decisions.
- Further research into potential therapeutic strategies for hypophosphatasia is warranted.
Abstract:
Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and the prognosis is always lethal, detection of index cases and prenatal diagnosis is subsequent pregnancies is very important. Here we report a case with the most severe form of hypophosphatasia associated with lung hypoplasia.