1. Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus
- Author
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Andrea Berger, Katrin Õunap, Paul R. Kasher, Yanick J. Crow, Emma M. Jenkinson, Duccio Maria Cordelli, Emma Wakeling, Helen Stewart, Andrea Whitney, John H. Livingston, Calvin Soh, Patrick Ferreira, Christine E. G. van Mol, Staffan Lundberg, Stavros Stivaros, Josephine Mayer, Rosalind J. Jefferson, Prab Prabhakar, Jon Stone, Georg Kutschke, Gillian I. Rice, Marjo S. van der Knaap, Hilda van Esch, Other departments, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Pediatric surgery, NCA - Brain mechanisms in health and disease, Livingston, John H., Mayer, Josephine, Jenkinson, Emma, Kasher, Paul, Stivaros, Stavro, Berger, Andrea, Cordelli, Duccio M., Ferreira, Patrick, Jefferson, Rosalind, Kutschke, Georg, Lundberg, Staffan, Ounap, Katrin, Prabhakar, Prab, Soh, Calvin, Stewart, Helen, Stone, Jon, Van Der Knaap, Marjo S., Van Esch, Hilda, Van Mol, Christine, Wakeling, Emma, Whitney, Andrea, Rice, Gillian I., and Crow, Yanick J.
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Adult ,leukoencephalopathy ,Cerebellum ,Pathology ,medicine.medical_specialty ,Tomography Scanners, X-Ray Computed ,Adolescent ,coats plu ,Neurological disorder ,intracranial calcification ,Leukoencephalopathie ,Leukoencephalopathy ,White matter ,Young Adult ,Leukoencephalopathies ,Basal ganglia ,Humans ,Medicine ,Child ,Nervous System Disease ,Cerebral atrophy ,Brain Diseases ,Cysts ,business.industry ,Brain Disease ,Infant, Newborn ,Calcinosis ,Infant ,General Medicine ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Cyst ,medicine.anatomical_structure ,Dentate nucleus ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Calcinosi ,Neurology (clinical) ,Nervous System Diseases ,business ,Human ,Calcification - Abstract
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. ispartof: Neuropediatrics vol:45 issue:3 pages:175-82 ispartof: location:Germany status: published
- Published
- 2014
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