Journal: Drug Invention Today

Article Id: JPRS-P'Col-00004682
Title: A 6-month-old girl with incontinentia pigmenti presenting as status epilepticus
Category: Pharmacology
Section: Research Article
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    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 (2017;7:118-120).

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    Author(s) Name:

    Pavan Kumar Reddy*, Shafath Ahmed, S. Sundari

    Affiliation(s) Name:

    Department of Pediatrics, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India

    *Corresponding author: Dr. Pavan Kumar, Department of Pediatrics, Sree Balaji Medical College and Hospital, 7, Works Road, New Colony, Chromepet, Chennai - 600 044, Tamil Nadu, India.

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    Author:

    Pavan Kumar Reddy*, Shafath Ahmed, S. Sundari

    Title:A 6-month-old girl with incontinentia pigmenti presenting as status epilepticus
    Journal:Drug Invention Today
    Vol(issue):11 (December )
    Year:2019
    Page No: (3275-3277)
  • Experimental Methods Keywords

    Methodology:Epilepticus, Incontinentia pigmenti, Kappa-B kinase gamma
    Research Materials:6-month-old girl

Keywords

Epilepticus Incontinentia pigmenti Kappa-B kinase gamma

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