Related Experiment Video

Updated: Feb 15, 2026

Methods for ECG Evaluation of Indicators of Cardiac Risk, and Susceptibility to Aconitine-induced Arrhythmias in Rats Following Status Epilepticus
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Published on: April 5, 2011

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

Moon Young Seo1, Su Jeong You1, Soung Hee Kim2

  • 1Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

Journal of Epilepsy Research
|January 19, 2018
PubMed

Insights

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder. This case highlights delayed onset seizures in a 6-month-old, emphasizing skin lesion examination for diagnosis.

Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Incontinentia pigmenti (IP) is a rare genodermatosis.
  • Diagnosis typically relies on characteristic skin lesions and neonatal seizures.
  • Neurologic manifestations often appear early in infancy.

Observation:

  • A 6-month-old female presented with hyperpigmented skin whorls.
  • The patient experienced status epilepticus following a viral infection.
  • Brain MRI revealed findings consistent with acute encephalopathy in IP.

Findings:

  • Genetic analysis identified an 11.7 kb deletion in the IKBKG gene.
  • This deletion is associated with Incontinentia pigmenti.
  • The patient's delayed-onset seizures were linked to acute encephalopathy.

Implications:

  • Highlights the importance of examining skin lesions in cases of unexplained seizures.
  • Suggests IP can present with later-onset neurological complications.
  • Emphasizes the need for genetic testing in suspected IP cases.

Keywords:
Incontinentia pigmentiNeurologyStatus epilepticus

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