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Hypophosphatasia in a newborn infant
G Tekinalp1, A Yükselen, F Balkanci
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
The Turkish Journal of Pediatrics
|January 1, 1995
Summary
Infantile hypophosphatasia, a severe genetic disorder, presents with low alkaline phosphatase activity. Early diagnosis in infants is crucial for managing this rare condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile hypophosphatasia is a severe, autosomal recessive disorder.
- It is characterized by subnormal circulating alkaline phosphatase activity.
- This condition presents with significant clinical manifestations from birth.
Observation:
- A five-day-old male infant presented with jaundice.
- Clinical examination revealed a soft calvaria, large fontanel, wide cranial sutures, low-set ears, depressed nasal bridge, funnel chest, and short, bowed limbs.
- Radiographic studies showed widened sutures, poor skull ossification, bowed femora, and long bone defects.
Findings:
- Low serum alkaline phosphatase activity was detected.
- Elevated urinary phosphoethanolamine excretion confirmed the diagnosis.
- The infant's parents were consanguineous, suggesting a genetic link.
Implications:
- Early identification of infantile hypophosphatasia is critical for timely intervention.
- Understanding the biochemical markers aids in diagnosing this rare genetic disorder.
- This case highlights the importance of recognizing clinical and radiographic signs in affected infants.