[Neonatal seizures revealing incontinentia pigmenti]

Area of Science:

• Genetics and Developmental Biology
• Pediatric Neurology
• Dermatology

Background:

• Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder.
• It primarily affects ectodermal tissues, including skin, teeth, eyes, bones, and the central nervous system.
• IP is often lethal in male infants, making diagnosis and management critical in affected females.

Observation:

• A female neonate presented with seizures on the third day of life.
• No apparent cause for the seizures was identified initially.
• Skin lesions characteristic of IP appeared one week after the initial presentation.

Findings:

• The neonate's clinical presentation, including seizures and subsequent skin lesions, led to the diagnosis of Incontinentia pigmenti.
• The classic four-stage progression of IP skin lesions, culminating in hyperpigmentation, was observed.
• This case underscores the potential neurological manifestations of IP in neonates.

Implications:

• Early recognition of IP is crucial, even in the absence of characteristic skin findings.
• Neurological symptoms like seizures in neonates can be an early indicator of IP.
• Understanding the diverse presentations of IP aids in timely diagnosis and appropriate management strategies for affected infants.