Title |
A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus
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Published in |
Journal of Epilepsy Research, December 2017
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DOI | 10.14581/jer.17019 |
Pubmed ID | |
Authors |
Moon Young Seo, Su Jeong You, Soung Hee Kim, Woo Ho Cho, Jong Hee Chae |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Librarian | 1 | 50% |
Researcher | 1 | 50% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 1 | 50% |
Chemistry | 1 | 50% |