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Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.
J Child Neurol. 2004 Mar; 19(3):227-31.JC

Abstract

Joubert syndrome is a rare genetic neurologic disorder associated with hypoplasia or absence of the cerebellar vermis. The classic form is characterized by ataxia, hypotonia, eye movement abnormalities, developmental delay, and abnormal breathing patterns. In contrast, other patients have the additional feature of kidney cysts. This population could represent a distinct form of Joubert syndrome. One case of Joubert syndrome with subcortical neuroepithelial cysts was recently described. We report a new case of Joubert syndrome with overlapping features, including diffuse progressive central nervous system neuroepithelial cysts and kidney cysts. Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts.

Authors+Show Affiliations

Department of Neurosciences, University of California, San Diego, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15119486

Citation

Marsh, Sarah E., et al. "Neuroepithelial Cysts in a Patient With Joubert Syndrome Plus Renal Cysts." Journal of Child Neurology, vol. 19, no. 3, 2004, pp. 227-31.
Marsh SE, Grattan-Smith P, Pereira J, et al. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. J Child Neurol. 2004;19(3):227-31.
Marsh, S. E., Grattan-Smith, P., Pereira, J., Barkovich, A. J., & Gleeson, J. G. (2004). Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. Journal of Child Neurology, 19(3), 227-31.
Marsh SE, et al. Neuroepithelial Cysts in a Patient With Joubert Syndrome Plus Renal Cysts. J Child Neurol. 2004;19(3):227-31. PubMed PMID: 15119486.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. AU - Marsh,Sarah E, AU - Grattan-Smith,Padraic, AU - Pereira,John, AU - Barkovich,A James, AU - Gleeson,Joseph G, PY - 2004/5/4/pubmed PY - 2004/8/4/medline PY - 2004/5/4/entrez SP - 227 EP - 31 JF - Journal of child neurology JO - J Child Neurol VL - 19 IS - 3 N2 - Joubert syndrome is a rare genetic neurologic disorder associated with hypoplasia or absence of the cerebellar vermis. The classic form is characterized by ataxia, hypotonia, eye movement abnormalities, developmental delay, and abnormal breathing patterns. In contrast, other patients have the additional feature of kidney cysts. This population could represent a distinct form of Joubert syndrome. One case of Joubert syndrome with subcortical neuroepithelial cysts was recently described. We report a new case of Joubert syndrome with overlapping features, including diffuse progressive central nervous system neuroepithelial cysts and kidney cysts. Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts. SN - 0883-0738 UR - https://www.unboundmedicine.com/medline/citation/15119486/Neuroepithelial_cysts_in_a_patient_with_Joubert_syndrome_plus_renal_cysts_ L2 - http://www.diseaseinfosearch.org/result/3917 DB - PRIME DP - Unbound Medicine ER -