Familial Joubert syndrome: A clinico-radiological findings in two siblings

Article type: Research Article

Authors: Mahajan, Abhishek | Joy, Sajan

Affiliations: Department of Radiodiagnosis and Imaging Kasturba Medical College, Manipal, India

Note: [] Correspondence: Dr. Abhishek Mahajan, Department of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal, India. Tel.: +91 9945671009; E-mail: [email protected]

Abstract: Joubert syndrome is a rare autosomal recessive disorder with malformations of brain stem and cerebellum, manifested by abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation. "molar tooth sign", seen on brain magnetic resonance imaging illustrates the typical neuro-radiological appearance of this condition. In this report, we describe the familial occurrence of Joubert syndrome in two siblings with emphasis on the imaging features of this rare syndrome.

Keywords: Joubert, familial, MRI, molar tooth, autosomal recessive

DOI: 10.3233/JPN-2009-0320

Journal: Journal of Pediatric Neurology, vol. 7, no. 4, pp. 427-430, 2009