A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus

Abstract

Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection and fever, the patient exhibited status epilepticus. Brain magnetic resonance imaging studies of the patient were compatible with the findings of acute encephalopathy in IP. Genetic analysis showed an 11.7 kb deletion within the gene encoding inhibitor of kappa-B kinase gamma. The patient was treated with anticonvulsants and subsequently reached expected developmental milestones after discharge. These findings indicate that when a patient presents with status epilepticus, meticulous examination for skin lesions should be performed to determine whether the patient has a neurocutaneous syndrome, such as IP.

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

“…To date, most studies regarding IKBKG mutations in IP cases were conducted in Western populations. Although several Korean studies have examined clinically diagnosed IP patients, 10,11 only seven genetically confirmed IP cases have been reported; six had a common exon 4–10 IKBKG deletion 12‐14 and only one had a point mutation 15 . In this study, we performed a genetic analysis in Korean IP patients and reported molecular genetic backgrounds including five intragenic sequence variants of IKBKG with three novel mutations.…”