title: Incontinentia pigmenti: a case report and literature review.
abstract: Incontinentia 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.
authors.affiliation: Department of Ophthalmology, Inönü University Faculty of Medicine, Malatya, Turkey.
authors.forename: Sinan
authors.initials: S
authors.lastname: Emre
authors.forename: Yezdan
authors.initials: Y
authors.lastname: Firat
authors.forename: Serdal
authors.initials: S
authors.lastname: Güngör
authors.forename: Ahmet Kemal
authors.initials: AK
authors.lastname: Firat
authors.forename: Yelda
authors.initials: Y
authors.lastname: Karincaoğlu
mesh_terms: D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis*; D007223:Infant; D008279:Magnetic Resonance Imaging; D014463:Ultrasonography