title: Neonatal presentation of incontinentia pigmenti with a family history extending over four generations--a case report.
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.
authors.affiliation: 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.
authors.forename: R
authors.initials: R
authors.lastname: Ojha
authors.affiliation: Sydney Medical School - Nepean, The University of Sydney, Discipline of Pediatrics, Nepean Hospital, NSW, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Villarreal
authors.affiliation: Sydney Medical School - Nepean, The University of Sydney, Discipline of Pediatrics, Nepean Hospital, NSW, Australia.
authors.forename: H
authors.initials: H
authors.lastname: Coughtrey
mesh_terms: D002544:Cerebral Infarction / Q000473:pathology*; D005076:Exanthema / Q000209:etiology* / Q000473:pathology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D011379:Prognosis; D012640:Seizures / Q000209:etiology*; D012729:Sex Chromosome Aberrations; D015354:Vision, Low / Q000473:pathology*
keywords: Bloch-Sulzberger syndrome; Incontinentia pigmenti; hypermalinosis of Ito; skin rashes