A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus
نویسندگان
چکیده
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.
منابع مشابه
Incontinentia Pigmenti
Incontinentia pigmenti (IP) is an uncommon X-linked dominant genodermatosis characterized by four cutaneous stages and frequent association with dental (90%), central nervous system (33%) and ocular (35%) anomalies. The exact pathogenesis of this disorder remains unknown.Herein, we report a newborn girl with inflammatory vesiculobullous and warty skin lesions and a positive family history of IP...
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