Leukoencephalopathy, Cerebral Calcifications and Cysts: a Family Study

Overview

Journal J Neurol

Specialty Neurology

Date 2014 Jul 19

PMID 25034270

Citations 3

Authors

Kinga Karlinger

Adam Domonkos Tarnoki

David Laszlo Tarnoki

Anne Polvi

Anna-Elina Lehesjoki

Andrea Kelemen

Laszlo Szegedi

Eszter Turanyi

Anita Kamondi

Anna Szucs

Affiliations

Soon will be listed here.

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.

Citing Articles

Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.

Picchi E, Ferrazzoli V, Pizzicannella G, Pucci N, Pitocchi F, Valente F Neurol Sci. 2021; 42(11):4471-4487.

PMID: 34482485 DOI: 10.1007/s10072-021-05560-0.

Brain Calcification and Movement Disorders.

Kostic V, Petrovic I Curr Neurol Neurosci Rep. 2017; 17(1):2.

PMID: 28097511 DOI: 10.1007/s11910-017-0710-9.

Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature.

Stephani C, Pfeifenbring S, Mohr A, Stadelmann C BMC Neurol. 2016; 16:19.

PMID: 26852234 PMC: 4744425. DOI: 10.1186/s12883-016-0543-1.

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