Neuroradiologic Evaluation of Joubert's Syndrome: Case Report

Year 2005, Volume: 10 Issue: 3, 136 - 138, 01.06.2005

Hanefi Yıldırım Ayşe Murat Mustafa Aydın Derya Benzer

Abstract

Joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem. We aimed to point out the clinical heterogenity and radiologic findings of JS. We presented a case of Joubert syndrome associated with ptosis and hypotonia.©2005, Fırat Üniversitesi, Tıp Fakültesi

Keywords

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Joubert Sendromunun Nöroradyolojik Açıdan Değerlendirilmesi: Olgu Sunumu

Abstract

Joubert sendromu anormal solunum düzeni ve göz hareketleri, hipotoni, ataksi, serebellum ve beyin sapının nöropatolojik anomalileri ile birlikte gelişimsel geriliğin olduğu, nadir görülen otozomal resesif bir sendromdur. Pitozis ve hipotonisite yakınması ile başvuran bir Joubert sendromu olgusu sunularak, literatür bilgileri ışığında, sendromun klinik heterojenitesi ve radyolojik bulgularını sunmayı amaçladık. ©2005, Fırat Üniversitesi, Tıp Fakültesi

Keywords

Joubert sendromu, BT, MRG

References

• Blair IP, Gibson RR, Bennett CL, Chance PF. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet 2002; 107: 190-196.
• Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 1969; 19: 813-825.
• Saraiva JM, Baraitser M. Joubert syndrome : a review. Am J Med Genet 1992; 43:726-731.
• Chance PF, Cavalier L, Satran D, et al. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999; 14:660-666.
• Saar K, Al-Gazali L, Sztriha l, et al. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet 1999; 65:1666-1667.
• Saito Y, Ito M, Ozawa Y, et al. Changes of neurotransmitters in the brainstem of patients with respiratory-pattern disorders during childhood. Neuropediatrics 1999; 30:133-140.
• Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol 1999; 14:655-659.
• Barreirinho MS, Teixeira J, Moreira NC, et al. Joubert’s syndrome: report of 12 cases. Rev Neurol 2001; 32: 812-817.
• Bruck I, Antoniuk SA, Carvalho Neto AD, Spessatto A. Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings. Arq Neuropsiquiatr 2000; 58: 897-900.
• Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999; 14:628-635.
• Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert syndrome: a clinico-radiological study. Neuroradiology 1990; 31: 502-506.
• Barkovich AJ. Pediatric neuroimaging 2nd ed. New York, NY: Raven, 1995; 249-257.
• Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome“ revisited : key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997; 12: 423-430.
• Ni Scanaill S, Crowley P, Hogan M, Stuart B. Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert’s syndrome. Ultrasound Obstet Gynecol 1999; 13: 71-74.
• Brett EM. Ataxia. In:Brett Edward M. Paediatric Neurology. Third ed. Churchill Livingstone. New York 1997. pages:272-273.
• Spinella GM. Research directions. Follow up of the Joubert syndrome workshop, October 21, 1998. J Child Neurol, 1999; 14:667-672.
• Solomon R, Jana AK, Singh S, Biswas A. Joubert syndrome. Indian Pediatrics 2001; 38: 1045-1049.
• Habre W, Sims C, D’Souze M. Anaesthetic management of children with Joubert syndrome. Paediatric Anaesth 1997; 7:251-253.
• Lloret Sempere T, Sariano Serrano M. Joubert syndrome. Study of a new case and review of the literature. An Esp Pediatr 1982; 17: 310-316.
• Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert’s syndrome. Neuropediatrics 1997; 28:204-211.