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Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom.
Department of Genetic Medicine, University of Manchester, United Kingdom.
Department of Genetic Medicine, University of Manchester, United Kingdom.
Department of Genetic Medicine, University of Manchester, United Kingdom.
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2014 (English)In: Neuropediatrics, ISSN 0174-304X, E-ISSN 1439-1899, Vol. 45, no 3, 175-182 p.Article in journal (Refereed) Published
Abstract [en]

Objective

With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity.

Patients and Methods

A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described.

Results 

The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy.

Conclusion

LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.

Place, publisher, year, edition, pages
2014. Vol. 45, no 3, 175-182 p.
Keyword [en]
intracranial calcification, leukoencephalopathy, coats plus
National Category
Neurosciences Pediatrics Neurology
Identifiers
URN: urn:nbn:se:uu:diva-220773DOI: 10.1055/s-0033-1364180ISI: 000337173900005PubMedID: 24407470OAI: oai:DiVA.org:uu-220773DiVA: diva2:706522
Available from: 2014-03-20 Created: 2014-03-20 Last updated: 2017-12-05Bibliographically approved

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Lundberg, Staffan

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