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
Summary
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.
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