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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.
Insights
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.
Abstract:
Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase. In this report, we presented a five-day-old male with this rare disorder. His parents were first cousins, and he was first seen for jaundice. He had soft calvaria, large fontanel, extremely wide cranial sutures, low-set ears, a depressed nasal bridge, funnel chest, and short and bowed distal limbs. Roentgenographic studies showed widened sutures and poor ossification of the skull, bowing of the femora and slight modeling defects in the long bones. A low serum alkaline phosphatase activity led us to measure excretion of phosphoethanolamine and found it to be increased.