Incontinentia pigmenti: a case report and literature review

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dc.authoridEmre, Sinan/0000-0002-9788-3895
dc.authorwosidEmre, Sinan/T-5643-2019
dc.contributor.authorEmre, Sinan
dc.contributor.authorFirat, Yezdan
dc.contributor.authorGungor, Serdal
dc.contributor.authorFirat, Ahmet Kemal
dc.contributor.authorKarincaoglu, Yelda
dc.date.accessioned2024-08-04T20:31:15Z
dc.date.available2024-08-04T20:31:15Z
dc.date.issued2009
dc.departmentİnönü Üniversitesien_US
dc.description.abstractIncontinentia pigmenti (IP) is a rare, X-linked dominant disorder that presents at or soon after birth with characteristic cutaneous signs. The eyes and central nervous system are the next most commonly affected systems. We aimed to describe the ophthalmological, neurological and radiodiagnostic findings of a patient with IP and bilateral retinal detachment. Clinical and laboratory findings of a four-month-old female baby who did not have light fixation and had neurological maturation retardation are presented. Characteristic skin lesions of IP were noted especially at the extremities, bilaterally. On neurological examination, motor and mental maturation were retarded and axial hypotonia was noted. Bilateral retinal detachment was the cause of absent eye fixation noted during ophthalmologic examination, and the detachments were also documented by ultrasonography and magnetic resonance imaging (MRI). Otologic examination was normal. Focal left frontal lobe atrophy, corpus callosum hypoplasia and prominence of right hemisphere were also noted on MRI. MR spectroscopy revealed negative lactate peak at the involved left frontal lobe. Bilateral retinal detachment is a probable finding in IP and patients with neurological symptoms should be investigated for associated sight- threatening ocular pathologies.en_US
dc.identifier.endpage194en_US
dc.identifier.issn0041-4301
dc.identifier.issue2en_US
dc.identifier.pmid19480336en_US
dc.identifier.scopus2-s2.0-67149100853en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage190en_US
dc.identifier.urihttps://hdl.handle.net/11616/94810
dc.identifier.volume51en_US
dc.identifier.wosWOS:000266291500019en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectincontinentia pigmentien_US
dc.subjectneuroimaging in neurocutaneous disordersen_US
dc.subjectretinal detachment in childhooden_US
dc.titleIncontinentia pigmenti: a case report and literature reviewen_US
dc.typeArticleen_US

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