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  • Title: Neonatal presentation of incontinentia pigmenti with a family history extending over four generations--a case report.
    Author: Ojha R, Villarreal D, Coughtrey H.
    Journal: J Neonatal Perinatal Med; 2014 Jan 01; 7(2):151-5. PubMed ID: 25104119.
    Abstract:
    We report a case of Incontinentia pigmenti (IP). A day 2 female presented to the special care nursery with seizures. EEG showed multifocal epileptiform discharges and cranial MRI revealed extensive cerebral infarction. A rash appeared shortly after birth. Eye examination revealed changes of IP. There is a strong family history of IP. Genetic testing excluded the most common mutation. Follow-up reveals significant development delay.
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