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Yellow nail syndrome in infancy

M Paradisis¹, P Van Asperen

¹Department of Respiratory Medicine, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.

Journal of Paediatrics and Child Health

|December 24, 1997

Summary

Yellow Nail Syndrome (YNS) in an infant presented with congenital lymphoedema, pleural and pericardial effusions, middle ear effusions causing deafness, and secondary immunodeficiency, highlighting its systemic lymphatic abnormalities.

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Area of Science:

Pediatrics
Genetics
Immunology

Background:

Yellow Nail Syndrome (YNS) is a rare autosomal dominant disorder.
YNS typically presents with characteristic nail changes, lymphedema, and respiratory issues.

Observation:

An infant presented with congenital lymphoedema at birth.
At 6 months, he developed recurrent cough, wheeze, bilateral pleural effusions, and pericardial effusion.
Persistent middle ear effusions led to conductive deafness and secondary immunodeficiency.

Findings:

Clinical and radiological findings confirmed pleural and pericardial effusions as manifestations of lymphatic abnormality.
Lung biopsy and pericardial window procedures were performed.
The infant required hearing aids and regular immunoglobulin infusions.

Implications:

This case underscores the diverse and severe systemic manifestations of YNS in infancy.
Early diagnosis and management of lymphatic abnormalities are crucial for improving outcomes.
Further research into the genetic and molecular basis of YNS is warranted.

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