Hypomyelination and congenital cataract: Three siblings presentation

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dc.authorid0000-0003-1513-6149
dc.contributor.authorKaralök, Zeynep Selen
dc.contributor.authorGürkaş Esra
dc.contributor.authorAydın, Kürşad
dc.contributor.authorCeylaner, Serdar
dc.date.accessioned2021-03-04T08:02:06Z
dc.date.available2021-03-04T08:02:06Z
dc.date.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractHypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. Brain magnetic resonance imaging (MRI) showed diffuse hypomyelination, whereas neurophysiological studies showed sensorimotor peripheral polyneuropathy. Cases with hypomyelination in MRI represent the largest group of undiagnosed diseases among patients with leukoencephalopathies. To diagnose cases with peripheral neuropathy, their clinical and neuroradiological findings must be identified. These findings can guide clinicians to appropriate molecular investigations.
dc.identifier.citationKaralök, Z. S., Gürkaş E., Aydın, K. ve Ceylaner, S. (2020). Hypomyelination and congenital cataract: Three siblings presentation. Journal of Pediatric Neurosciences, 15(3), 270-273. https://dx.doi.org/10.4103/jpn.JPN_161_18
dc.identifier.doi10.4103/jpn.JPN_161_18
dc.identifier.endpage273
dc.identifier.issn1817-1745
dc.identifier.issn1998-3948
dc.identifier.issue3
dc.identifier.startpage270
dc.identifier.urihttps://dx.doi.org/10.4103/jpn.JPN_161_18
dc.identifier.urihttps://hdl.handle.net/20.500.12511/6597
dc.identifier.volume15
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWolters Kluwer Medknow Publications
dc.relation.ispartofJournal of Pediatric Neurosciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectCataract
dc.subjectFAM126A
dc.subjectMRI
dc.subjectMyelination
dc.titleHypomyelination and congenital cataract: Three siblings presentation
dc.typeArticle

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