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Neonatal hypernatraemia in two siblings with Netherton's syndrome
The British Journal of Dermatology
|June 1, 1986
Summary
Two siblings with Netherton's syndrome experienced hypernatraemia (high sodium levels) in the neonatal period. This complication, likely due to trans-epidermal water loss, is a preventable cause of neonatal morbidity in infants with erythroderma.
Area of Science:
- Neonatal Medicine
- Dermatology
- Pediatric Endocrinology
Background:
- Netherton's syndrome is a rare autosomal recessive disorder characterized by congenital ichthyosiform erythroderma, hair shaft abnormalities (trichorrhexis invaginata), and atopic diathesis.
- Neonatal hypernatraemia is a serious electrolyte imbalance that can lead to significant morbidity and mortality if not promptly recognized and managed.
Observation:
- Two siblings diagnosed with Netherton's syndrome presented with severe hypernatraemia during the neonatal period.
- The infants exhibited erythroderma, suggesting significant transepidermal water loss.
Findings:
- The hypernatraemia in these cases was attributed primarily to excessive transepidermal water loss, a common complication in infants with erythroderma.
- While not directly caused by Netherton's syndrome, the condition creates a predisposition to hypernatraemia due to compromised skin barrier function.
Implications:
- Clinicians should be vigilant for hypernatraemia in all neonates with erythroderma, regardless of the underlying diagnosis.
- Early recognition and management of transepidermal water loss-induced hypernatraemia are crucial for preventing neonatal morbidity in affected infants.