Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizure

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dc.contributor.authorDusak, Abdurrahim
dc.contributor.buuauthorSeferoğlu, Meral
dc.contributor.buuauthorHakyemez, Bahattin
dc.contributor.buuauthorBora, İbrahim
dc.contributor.buuauthorParlak, Müfit
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-3425-0740tr_TR
dc.contributor.researcheridAAI-2318-2021tr_TR
dc.contributor.researcheridAAG-8521-2021tr_TR
dc.contributor.scopusid25636262100tr_TR
dc.contributor.scopusid6602527239tr_TR
dc.contributor.scopusid6602914249tr_TR
dc.contributor.scopusid7003589220tr_TR
dc.date.accessioned2022-04-15T08:32:35Z
dc.date.available2022-04-15T08:32:35Z
dc.date.issued2012-08
dc.description.abstractSyndrome is characterized by cerebral calcification andcyst formation (CRMCC), as defined in recent years,1and isdescribed in the published reports as Coats plus syndrome,Labrune syndrome and leukoencephalopathy calcification andcysts (LCC) syndrome.2Cerebral, ophthalmic, skeletal, intesti-nal involvement can be seen. CRMCC determined in lateadolescence is limited. Autosomal recessive inheritance isreported.3In the majority of patients, neurological findingsshowing progression have been reported, such as spasticity,dystonia, ataxia and loss of cognitive abilities. Imaging find-ings with laboratory data should support the diagnosis.en_US
dc.identifier.citationDusak, A. vd. (2012). "Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizure". Psychiatry and Clinical Neurosciences, 66(5), 460-460.en_US
dc.identifier.endpage460tr_TR
dc.identifier.issn1323-1316
dc.identifier.issue5tr_TR
dc.identifier.pubmed22834668tr_TR
dc.identifier.scopus2-s2.0-84864416554tr_TR
dc.identifier.startpage460tr_TR
dc.identifier.urihttps://doi.org/10.1111/j.1440-1819.2012.02367.x
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1111/j.1440-1819.2012.02367.x
dc.identifier.urihttp://hdl.handle.net/11452/25798
dc.identifier.volume66tr_TR
dc.identifier.wos000306895600014
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.journalPsychiatry and Clinical Neurosciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNeurosciences & neurologyen_US
dc.subjectPsychiatryen_US
dc.subjectCerebral calcificationsen_US
dc.subjectLeukoencephalopathyen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeBasal ganglionen_US
dc.subject.emtreeBrain calcificationen_US
dc.subject.emtreeBrain cysten_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeComplex partial seizureen_US
dc.subject.emtreeComputer assisted tomographyen_US
dc.subject.emtreeElectroencephalographyen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeLetteren_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMicroangiopathyen_US
dc.subject.emtreeMuscle spasmen_US
dc.subject.emtreeNuclear magnetic resonance imagingen_US
dc.subject.emtreeParesthesiaen_US
dc.subject.emtreeProgressive cerebroretinal microangiopathyen_US
dc.subject.emtreeSpeech disorderen_US
dc.subject.emtreeThalamusen_US
dc.subject.emtreeWechsler memory scaleen_US
dc.subject.emtreeWhite matteren_US
dc.subject.meshAtaxiaen_US
dc.subject.meshBrain neoplasmsen_US
dc.subject.meshCalcinosisen_US
dc.subject.meshCentral nervous system cystsen_US
dc.subject.meshEpilepsy, complex partialen_US
dc.subject.meshHumansen_US
dc.subject.meshLeukoencephalopathiesen_US
dc.subject.meshMaleen_US
dc.subject.meshMuscle spasticityen_US
dc.subject.meshRetinal diseasesen_US
dc.subject.meshSeizuresen_US
dc.subject.meshYoung adulten_US
dc.subject.scopusDyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Telomerase RNAen_US
dc.subject.wosClinical neurologyen_US
dc.subject.wosNeurosciencesen_US
dc.subject.wosPsychiatryen_US
dc.titleProgressive cerebroretinal microangiopathy with calcifications and cysts syndrome: An unusual cause of complex partial seizureen_US
dc.typeLetter
dc.wos.quartileQ2 (Clinical neurology)en_US
dc.wos.quartileQ3en_US

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