Abstract | OBJECTIVE: Some clinical findings in tuberous sclerosis complex ( TSC), such as hypomelanotic macules or angiofibromas are related to problems in development of the neural crest, which is also the origin of cranial leptomeninges. Arachnoid cysts have been reported in two TSC patients to date. The purpose of this study was to assess the prevalence and characteristics of arachnoid cysts in a large cohort of TSC. MATERIALS AND METHOD: RESULTS:
Arachnoid cysts were found in 12 (5.5%) (general population: 0.5%), including ten males (83.3%). Four patients (33.3%) had also autosomal dominant polycystic kidney disease ( ADPKD) due to a contiguous deletion of the TSC2-PKD1 genes. Three patients (25%) had two or more arachnoid cysts, of whom two also had ADPKD. One patient with an arachnoid cyst did not have tubers, subependymal nodules or white matter migration lines. CONCLUSION: Our study suggests that arachnoid cysts are part of the clinical spectrum of TSC and may be also present in TSC patients without other typical TSC brain lesions.
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Authors | Susana Boronat, Paul Caruso, Maria Auladell, Agnies Van Eeghen, Elizabeth Anne Thiele |
Journal | Brain & development
(Brain Dev)
Vol. 36
Issue 9
Pg. 801-6
(Oct 2014)
ISSN: 1872-7131 [Electronic] Netherlands |
PMID | 24325802
(Publication Type: Journal Article)
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Copyright | Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Chemical References |
- TRPP Cation Channels
- TSC2 protein, human
- Tuberous Sclerosis Complex 2 Protein
- Tumor Suppressor Proteins
- polycystic kidney disease 1 protein
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Arachnoid Cysts
(epidemiology, genetics, pathology)
- Brain
(pathology)
- Child
- Child, Preschool
- Female
- Gene Deletion
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Polycystic Kidney Diseases
(epidemiology, genetics)
- Prevalence
- Retrospective Studies
- TRPP Cation Channels
(genetics)
- Tuberous Sclerosis
(epidemiology, genetics, pathology)
- Tuberous Sclerosis Complex 2 Protein
- Tumor Suppressor Proteins
(genetics)
- Young Adult
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