{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T14:22:09Z","timestamp":1788186129080,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,4,28]],"date-time":"2016-04-28T00:00:00Z","timestamp":1461801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To report on the neurological presentation and neuroimaging findings in newborn infants with incontinentia pigmenti.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>The clinical and neurological course including neuroimaging and follow\u2010up data of eight newborn infants with the neurological phenotype of incontinentia pigmenti were retrospectively reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>While the clinical picture was polymorphic, the neurological manifestations were defined as encephalopathic and comprised lethargy and seizures in all but one of the infants. Magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) abnormalities were predominantly in the white matter. Diffusion\u2010weighted imaging (<jats:styled-content style=\"fixed-case\">DWI<\/jats:styled-content>) was obtained during the acute phase in seven of the eight infants, showing restricted diffusion in the deep and subcortical white matter but also in the corpus callosum, basal ganglia, thalami, cerebellum, and cerebral peduncles. Susceptibility\u2010weighted imaging (<jats:styled-content style=\"fixed-case\">SWI<\/jats:styled-content>), performed in five infants, showed a variable amount of signal loss, mainly in the white matter, within areas of restricted diffusion. Extensive <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> abnormalities in newborn infants were followed by abnormal neurodevelopment, with significant motor, cognitive, and\/or visual problems.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>To assess the extent of central nervous system involvement, <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> is recommended in the clinical evaluation of infants with incontinentia pigmenti. They have a characteristic pattern of brain lesions seen on <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>, best recognized using <jats:styled-content style=\"fixed-case\">DWI<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">SWI<\/jats:styled-content> in the acute neonatal phase, which allow the identification of and distinction between ischaemic and haemorrhagic lesions.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13140","type":"journal-article","created":{"date-parts":[[2016,4,28]],"date-time":"2016-04-28T11:48:17Z","timestamp":1461844097000},"page":"1076-1084","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti"],"prefix":"10.1111","volume":"58","author":[{"given":"Aneta","family":"Soltirovska Salamon","sequence":"first","affiliation":[{"name":"Department of Neonatology University Children's Hospital University Medical Center Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaske","family":"Lichtenbelt","sequence":"additional","affiliation":[{"name":"Department of Genetics Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances M","family":"Cowan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Imperial College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Casaer","sequence":"additional","affiliation":[{"name":"Department of Neonatology AZ St. Jan Bruges\u2010Ostend AV Bruges Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Dudink","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Radiology Erasmus Medical Center Sophia Rotterdam"},{"name":"Department of Neonatology Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneleen","family":"Dereymaeker","sequence":"additional","affiliation":[{"name":"Department of Neonatology University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darja","family":"Paro\u2010Panjan","sequence":"additional","affiliation":[{"name":"Department of Neonatology University Children's Hospital University Medical Center Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floris","family":"Groenendaal","sequence":"additional","affiliation":[{"name":"Department of Neonatology Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda S","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Neonatology Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,28]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Prevalence and incidence of rare diseases: bibliographic data. 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