Affiliations: Sydney Medical School – Nepean, The University of Sydney, Discipline of Pediatrics, Nepean Hospital, NSW, Australia | Suchlich School of Medicine & Dentistry, Discipline of Pediatrics, Western University, London, ON, Canada
Note: [] Corresponding author: Dr. Rahul Ojha, Sydney Medical School – Nepean, The University of Sydney, Discipline of Pediatrics, Nepean Hospital, Derby Street Penrith, 2750 NSW, Australia. Tel.: +61 247342155; Fax: +61 247343610; E-mail: [email protected]
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.
Keywords: Incontinentia pigmenti, hypermalinosis of Ito, Bloch-Sulzberger syndrome, skin rashes
