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Joubert syndrome with associated corpus callosum agenesis.
Eur J Paediatr Neurol. 2002; 6(1):63-6.EJ

Abstract

In 1969, Joubert et al. studied a family where four of six children had a severe clinical condition with episodic alternate hyperpnoea and apnoea, hypotonia, ataxia, psychomotor delay, and abnormal ocular movements. Two of the four had agenesis of the posterior-inferior part of the cerebellar vermis and two had complete agenesis of the vermis. We report a 5-month-old girl with Joubert syndrome in whom MRI shows both features typical of this condition and associated corpus callosum agenesis. To our knowledge, complete callosal agenesis has been infrequently reported in children with Joubert syndrome; consequently, it might be regarded as a casual finding. Nevertheless, the hypothesis of a developmental abnormality of midline structures extended to the supratentorial compartment is rather attractive.

Authors+Show Affiliations

Pediatric Neurology Department, Children's Hospital G. Salesi, Ancona, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11993957

Citation

Zamponi, N, et al. "Joubert Syndrome With Associated Corpus Callosum Agenesis." European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society, vol. 6, no. 1, 2002, pp. 63-6.
Zamponi N, Rossi B, Messori A, et al. Joubert syndrome with associated corpus callosum agenesis. Eur J Paediatr Neurol. 2002;6(1):63-6.
Zamponi, N., Rossi, B., Messori, A., Polonara, G., Regnicolo, L., & Cardinali, C. (2002). Joubert syndrome with associated corpus callosum agenesis. European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society, 6(1), 63-6.
Zamponi N, et al. Joubert Syndrome With Associated Corpus Callosum Agenesis. Eur J Paediatr Neurol. 2002;6(1):63-6. PubMed PMID: 11993957.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Joubert syndrome with associated corpus callosum agenesis. AU - Zamponi,N, AU - Rossi,B, AU - Messori,A, AU - Polonara,G, AU - Regnicolo,L, AU - Cardinali,C, PY - 2002/5/8/pubmed PY - 2002/8/21/medline PY - 2002/5/8/entrez SP - 63 EP - 6 JF - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society JO - Eur J Paediatr Neurol VL - 6 IS - 1 N2 - In 1969, Joubert et al. studied a family where four of six children had a severe clinical condition with episodic alternate hyperpnoea and apnoea, hypotonia, ataxia, psychomotor delay, and abnormal ocular movements. Two of the four had agenesis of the posterior-inferior part of the cerebellar vermis and two had complete agenesis of the vermis. We report a 5-month-old girl with Joubert syndrome in whom MRI shows both features typical of this condition and associated corpus callosum agenesis. To our knowledge, complete callosal agenesis has been infrequently reported in children with Joubert syndrome; consequently, it might be regarded as a casual finding. Nevertheless, the hypothesis of a developmental abnormality of midline structures extended to the supratentorial compartment is rather attractive. SN - 1090-3798 UR - https://www.unboundmedicine.com/medline/citation/11993957/Joubert_syndrome_with_associated_corpus_callosum_agenesis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S10903798(01)90542-2 DB - PRIME DP - Unbound Medicine ER -