title: Leukoencephalopathy, cerebral calcifications and cysts: a family study.
abstract: We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares several features with leukoencephalopathy with calcifications and cysts also called Labrune syndrome and the condition of cerebroretinal microangiopathy with calcifications and cysts (CRMCC; Coats plus syndrome). Genetic studies in this family did not reveal mutations in the CTC1 gene defected in CRMCC. We interpret our results as those supporting recent findings that despite clinical similarities, late-onset Labrune and Coats plus syndrome might be distinct entities. This family may have Labrune syndrome or a yet unclassified entity; exploration of similar cases could help classifying this one, and related conditions.
authors.affiliation: Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.
authors.forename: Kinga
authors.initials: K
authors.lastname: Karlinger
authors.forename: Ádám Domonkos
authors.initials: ÁD
authors.lastname: Tárnoki
authors.forename: Dávid László
authors.initials: DL
authors.lastname: Tárnoki
authors.forename: Anne
authors.initials: A
authors.lastname: Polvi
authors.forename: Anna-Elina
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: Andrea
authors.initials: A
authors.lastname: Kelemen
authors.forename: László
authors.initials: L
authors.lastname: Szegedi
authors.forename: Eszter
authors.initials: E
authors.lastname: Turányi
authors.forename: Anita
authors.initials: A
authors.lastname: Kamondi
authors.forename: Anna
authors.initials: A
authors.lastname: Szűcs
mesh_terms: D001259:Ataxia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001932:Brain Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002114:Calcinosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D020863:Central Nervous System Cysts / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009885:Ophthalmology; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012640:Seizures / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D034501:Telomere-Binding Proteins / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C544945:Ctc1 protein, human; D034501:Telomere-Binding Proteins