Related Experiment Video
Updated: Jul 19, 2026
11:27
A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
Published on: April 7, 2023
Clinics in diagnostic imaging (112). Perinatal lethal hypophosphatasia (PLH)
S Kritsaneepaiboon1, S Jaruratanasirikul, S Dissaneevate
1Department of Radiology, Faculty of Medicine, Prince of Songkla University, Hat-Yai, Songkhla 90110, Thailand. supikak@yahoo.com
Singapore Medical Journal
|November 1, 2006
Summary
This study reports a case of perinatal lethal hypophosphatasia in a newborn infant. The condition is characterized by severe bone demineralization and skeletal abnormalities, leading to respiratory distress.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Metabolic Bone Diseases
Background:
- Hypophosphatasia is a rare inherited metabolic disorder affecting bone mineralization.
- It is caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).
- Perinatal lethal hypophosphatasia represents the most severe form of the disease.
Observation:
- A two-hour-old female infant presented with respiratory distress and micromelic dwarfism.
- Radiographs revealed generalized demineralization, flattened spine, and metaphyseal irregularities in long bones.
- Laboratory findings included normal serum calcium, elevated phosphorus, and markedly reduced alkaline phosphatase.
Findings:
- The clinical and radiographic features, along with biochemical assays, confirmed a diagnosis of perinatal lethal hypophosphatasia.
- Specific skeletal findings included demineralization of ribs and long bones, and metaphyseal flaring.
- The case highlights the characteristic biochemical profile of low alkaline phosphatase with altered calcium and phosphorus levels.
Implications:
- This case underscores the importance of recognizing the clinical and radiographic signs of severe hypophosphatasia in neonates.
- Early diagnosis through biochemical markers is crucial for understanding the disease's spectrum.
- Further research into the aetiology, prenatal diagnosis, and potential treatments for hypophosphatasia is warranted.
Related Concept Videos
01:07Teratogenicity
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...