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Leukoencephalopathy,cerebral calcifications and cysts: a family study |
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| Authors: | Kinga Karlinger Ádám Domonkos Tárnoki Dávid László Tárnoki Anne Polvi Anna-Elina Lehesjoki Andrea Kelemen László Szegedi Eszter Turányi Anita Kamondi Anna Szűcs |
| Affiliation: | 1. Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary 2. Folkh?lsan Institute of Genetics, Helsinki, Finland 3. Neuroscience Center and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland 4. Department of Neurology, Semmelweis University, Budapest, Hungary 5. National Institute of Clinical Neurosciences, 1147 Amerikai rd 57, Budapest, Hungary 6. Institute of Pathology, Semmelweis University, Budapest, Hungary |
| 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. |
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