O3201: Seizing the Opportunity: An Incontinentia Pigmenti Case Report

Introduction: Incontinentia Pigmenti (IP) is a rare X-linked disorder due to mutations in the IKBKG gene. It is a multisystem disorder and presents in the first few weeks of birth. Clinical presentation is typically marked by characteristic skin lesions with subsequent involvement of the eyes, nails, central nervous system, teeth, and hair. The prevalence of IP is 0.7/1,000,0000 worldwide with a female-to-male ratio of 20:1. We present a unique pediatric case where poor feeding, inconsolability, and seizure were the initial symptoms at presentation.

Case Description: 3-day-old female with an unremarkable birth history presented with poor feeding, inconsolability, and diffuse, erythematous macular rash of one-day duration. On initial examination, she was noted to be bradycardic with heart rate of approximately 80 beats per minute. Pertinent preliminary labs included: normal electrocardiogram and echocardiogram, negative respiratory infectious disease panel, unremarkable urinalysis and complete blood count, normal erythrocyte sedimentation rate and procalcitonin, elevated c-reactive protein of 11.8 mg/L, elevated aspartate and alanine transaminase of 549 and 327 respectively. Shortly after labs were drawn, the patient developed seizures progressing to status epilepticus that was confirmed with electroencephalogram. Neurology was consulted and an appropriate antiepileptic regimen was initiated. The patient was intubated for airway protection, and seizures aborted after 24 hours. Empiric antibiotics (ampicillin and cefepime) and acyclovir were initiated. Lumbar puncture demonstrated elevated protein, but negative meningoencephalitis panel. Herpes simplex virus and parechovirus Polymerase Chain Reaction tests were also negative. Magnetic Resonance Imaging of the brain with and without contrast demonstrated widespread edema and restricted diffusion, suggestive of encephalitis. On day 14 of admission, the existing rash developed into patterned, tense vesicles in a linear distribution on the right upper extremity, determined to be distributed along Blaschko lines. Dermatology was consulted. The clinical appearance of her rash, in addition to skin punch biopsy, increased clinical suspicion for IP. After medical stabilization, the patient was discharged with multidisciplinary outpatient subspecialty follow-up managed by a transitional care specialist. Single gene analysis ultimately demonstrated partial deletion in the IKBKG gene, confirming the diagnosis of IP.

Discussion: IP typically presents with characteristic skin lesions at birth. Poor feeding, inconsolability, and seizure are rare presenting signs. While extensive infectious and neurologic work-up was performed, evolution of the patient’s rash ultimately led to the diagnosis of IP. Rapid recognition of such physical exam changes is imperative for early diagnosis, involvement of comprehensive subspeciality management, and optimized long-term outcomes.

Conclusion: This case highlights that symptoms such as poor feeding, inconsolability, and seizure can constitute the initial presentation of IP. We emphasize the importance of rapid recognition in physical exam findings, which may expedite subspecialist involvement, diagnosis, and multidisciplinary care.