Neonatal presentation of incontinentia pigmenti with a family history extending over four generations – A case reportJournal of Neonatal-Perinatal Medicine (2014)
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.
Citation InformationRahul Ojha, D Villarreal and H Coughtrey. "Neonatal presentation of incontinentia pigmenti with a family history extending over four generations – A case report" Journal of Neonatal-Perinatal Medicine (2014)
Available at: http://works.bepress.com/rahul-ojha/2/