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[Joubert syndrome: a report of 5 cases].
Rev Neurol. 1998 Apr; 26(152):548-50.RN

Abstract

OBJECTIVE

To review clinical features, radiological findings and prognosis in Joubert syndrome.

MATERIAL AND METHODS

We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases.

RESULTS

Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation.

CONCLUSIONS

Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described.

Authors+Show Affiliations

Servicio de Neurología Pediátrica, Hospital Infantil La Paz, Madrid, España.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

9796002

Citation

Calleja-Pérez, B, et al. "[Joubert Syndrome: a Report of 5 Cases]." Revista De Neurologia, vol. 26, no. 152, 1998, pp. 548-50.
Calleja-Pérez B, Fernández-Jaén A, Martínez-Bermejo A, et al. [Joubert syndrome: a report of 5 cases]. Rev Neurol. 1998;26(152):548-50.
Calleja-Pérez, B., Fernández-Jaén, A., Martínez-Bermejo, A., & Pascual-Castroviejo, I. (1998). [Joubert syndrome: a report of 5 cases]. Revista De Neurologia, 26(152), 548-50.
Calleja-Pérez B, et al. [Joubert Syndrome: a Report of 5 Cases]. Rev Neurol. 1998;26(152):548-50. PubMed PMID: 9796002.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Joubert syndrome: a report of 5 cases]. AU - Calleja-Pérez,B, AU - Fernández-Jaén,A, AU - Martínez-Bermejo,A, AU - Pascual-Castroviejo,I, PY - 1998/10/31/pubmed PY - 1998/10/31/medline PY - 1998/10/31/entrez SP - 548 EP - 50 JF - Revista de neurologia JO - Rev Neurol VL - 26 IS - 152 N2 - OBJECTIVE: To review clinical features, radiological findings and prognosis in Joubert syndrome. MATERIAL AND METHODS: We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases. RESULTS: Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation. CONCLUSIONS: Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described. SN - 0210-0010 UR - https://www.unboundmedicine.com/medline/citation/9796002/[Joubert_syndrome:_a_report_of_5_cases]_ L2 - http://www.diseaseinfosearch.org/result/3922 DB - PRIME DP - Unbound Medicine ER -