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Hypoplasia of deep cerebellar nuclei in joubert syndrome.
Pediatr Neurol. 2009 Jun; 40(6):474-6.PN

Abstract

Abnormalities of deep cerebellar nuclei in Joubert syndrome have been previously reported only in rare autopsy cases. Epilepsy in association with Joubert syndrome is also rarely reported. In two new cases of patients with Joubert syndrome, bilateral hypoplasia of deep cerebellar nuclei was detected in vivo by magnetic resonance imaging. One of the patients had drug-resistant epilepsy. Both patients received clinical examination, electroencephalography, neuropsychologic testing, and high-resolution magnetic resonance imaging (1.5 T). Patient 1, a 7-year-old boy, had muscular hypotonia, periodic tachypnea, mild ataxia, global developmental delay, exotropia, and polydactyly. Patient 2, a 23-year-old woman, had muscular hypotonia, epilepsy with pharmacoresistant generalized tonic-clonic seizures, learning disability, esotropia, and mild gait ataxia. Abnormalities of deep cerebellar nuclei might contribute to the pathophysiology of epilepsy in patients with Joubert syndrome.

Authors+Show Affiliations

Department of Neurology, Innsbruck Medical University, Innsbruck, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19433286

Citation

Kuchukhidze, Giorgi, et al. "Hypoplasia of Deep Cerebellar Nuclei in Joubert Syndrome." Pediatric Neurology, vol. 40, no. 6, 2009, pp. 474-6.
Kuchukhidze G, Rauchenzauner M, Gotwald T, et al. Hypoplasia of deep cerebellar nuclei in joubert syndrome. Pediatr Neurol. 2009;40(6):474-6.
Kuchukhidze, G., Rauchenzauner, M., Gotwald, T., Janecke, A., & Trinka, E. (2009). Hypoplasia of deep cerebellar nuclei in joubert syndrome. Pediatric Neurology, 40(6), 474-6. https://doi.org/10.1016/j.pediatrneurol.2008.12.007
Kuchukhidze G, et al. Hypoplasia of Deep Cerebellar Nuclei in Joubert Syndrome. Pediatr Neurol. 2009;40(6):474-6. PubMed PMID: 19433286.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypoplasia of deep cerebellar nuclei in joubert syndrome. AU - Kuchukhidze,Giorgi, AU - Rauchenzauner,Markus, AU - Gotwald,Thaddaeus, AU - Janecke,Andreas, AU - Trinka,Eugen, PY - 2008/07/31/received PY - 2008/12/10/revised PY - 2008/12/15/accepted PY - 2009/5/13/entrez PY - 2009/5/13/pubmed PY - 2009/8/11/medline SP - 474 EP - 6 JF - Pediatric neurology JO - Pediatr Neurol VL - 40 IS - 6 N2 - Abnormalities of deep cerebellar nuclei in Joubert syndrome have been previously reported only in rare autopsy cases. Epilepsy in association with Joubert syndrome is also rarely reported. In two new cases of patients with Joubert syndrome, bilateral hypoplasia of deep cerebellar nuclei was detected in vivo by magnetic resonance imaging. One of the patients had drug-resistant epilepsy. Both patients received clinical examination, electroencephalography, neuropsychologic testing, and high-resolution magnetic resonance imaging (1.5 T). Patient 1, a 7-year-old boy, had muscular hypotonia, periodic tachypnea, mild ataxia, global developmental delay, exotropia, and polydactyly. Patient 2, a 23-year-old woman, had muscular hypotonia, epilepsy with pharmacoresistant generalized tonic-clonic seizures, learning disability, esotropia, and mild gait ataxia. Abnormalities of deep cerebellar nuclei might contribute to the pathophysiology of epilepsy in patients with Joubert syndrome. SN - 1873-5150 UR - https://www.unboundmedicine.com/medline/citation/19433286/Hypoplasia_of_deep_cerebellar_nuclei_in_joubert_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(09)00022-8 DB - PRIME DP - Unbound Medicine ER -