Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus
| Autor: | 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 |
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| Přispěvatelé: | 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., Crow, Yanick J. |
| Rok vydání: | 2014 |
| Předmět: |
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 |
| Zdroj: | Livingston, J H, Mayer, J, Jenkinson, E, Kasher, P, Stivaros, S, Berger, A, Cordelli, D M, Ferreira, P, Jefferson, R, Kutschke, G, Lundberg, S, Ounap, K, Prabhakar, P, Soh, C, Stewart, H, Stone, J, van der Knaap, M S, Van Esch, H, van Mol, C, Wakeling, E, Whitney, A, Rice, G I & Crow, Y J 2014, ' Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus ', Neuropediatrics, vol. 45, no. 3, pp. 175-182 . https://doi.org/10.1055/s-0033-1364180 Neuropediatrics, 45(3), 175-182. Hippokrates Verlag GmbH |
| ISSN: | 0174-304X |
| DOI: | 10.1055/s-0033-1364180 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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