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Proteus syndrome

S C Ng¹, B S Khoo, N K Ho

¹Department of Neonatology, Kandang Kerbau Women's and Children's Hospital, Singapore.

Journal of Paediatrics and Child Health

|June 1, 1997

Summary

This summary is machine-generated.

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A baby with Proteus syndrome presented with facial lipolymphangioma, macrodactyly, and seizures. Surgical excision of lymphangiomas was successful, with no recurrence observed.

Area of Science:

Medical Genetics
Pediatric Surgery
Dermatology

Background:

Proteus syndrome is a rare congenital disorder characterized by asymmetric, segmental overgrowth of multiple tissues.
Early diagnosis and management are crucial for improving outcomes in affected infants.
This case highlights the complex presentation of Proteus syndrome in a neonate.

Observation:

A female Asian (Malay) neonate exhibited clinical features consistent with Proteus syndrome.
The infant presented with a large right facial lipolymphangioma, overlying skin hyperpigmentation, and a left-sided neck lymphangioma.
Additional findings included excess nuchal folds, macrodactyly, and bilateral talipes equinovarus.

Findings:

Despite significant hemifacial swelling, no upper respiratory tract obstruction was noted.

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Generalized seizures occurred on the sixth day of life, successfully managed with phenobarbital.

Excision of the lymphangiomas resulted in no recurrence.

Implications:

This case underscores the importance of recognizing the diverse clinical manifestations of Proteus syndrome in newborns.
Prompt surgical intervention for symptomatic lesions like lymphangiomas can lead to favorable outcomes.
Further research into the genetic and molecular underpinnings of Proteus syndrome may inform novel therapeutic strategies.