Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report
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Joubert syndrome (JS) is a rare genetic disorder characterized by a congenital malformation of the hindbrain, and accompanied by axonal decussation abnormalities affecting the corticospinal tract and the superior cerebellar peduncles. To the best of our knowledge, there are no reports of normal pyramidal decussation in JS. Here, we describe the case of an 18-year-old boy presenting midline-crossing corticospinal projections, which were considered normal corticospinal tract trajectories. Diffusion tensor imaging and motor evoked potential study analysis demonstrated the exclusive presence of decussating corticospinal projections in the patient. Based on these results, we suggest that JS might be associated with several, diverse corticospinal motor tract organization patterns.
Abstract
Joubert syndrome (JS) is a rare genetic disorder characterized by a congenital malformation of the hindbrain, and accompanied by axonal decussation abnormalities affecting the corticospinal tract and the superior cerebellar peduncles. To the best of our knowledge, there are no reports of normal pyramidal decussation in JS. Here, we describe the case of an 18-year-old boy presenting midline-crossing corticospinal projections, which were considered normal corticospinal tract trajectories. Diffusion tensor imaging and motor evoked potential study analysis demonstrated the exclusive presence of decussating corticospinal projections in the patient. Based on these results, we suggest that JS might be associated with several, diverse corticospinal motor tract organization patterns.
참고문헌 (8)
- Maria BL, "Clinical features and revised diagnostic criteria in Joubert syndrome", J Child Neurol, 14, pp.583~590 (1999)
- Yachnis AT, "Neuropathology of Joubert syndrome", J Child Neurol, 14, pp.655~659 (1999)
- Poretti A, "Diffusion tensor imaging in Joubert syndrome", AJNR Am J Neuroradiol, 28, pp.1929~1933 (2007)
- Theoret H, "Neurophysiologic characterization of motor and sensory projections in Joubert syndrome", Clin Neurophysiol, 124, pp.2283~2284 (2013)
- Srour M, "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population", Am J Hum Genet, 90, pp.693~700 (2012)
- Schutta HS, "Exceptions to the Valsalva doctrine", Neurology, 74, pp.329~335 (2010)
- Parisi MA, "Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome:functional magnetic resonance imaging (MRI)study", J Child Neurol, 19, pp.214~218 (2004)
- Dirik MA, "Molar tooth sign is not pathognomonic for Joubert syndrome", Pediatr Neurol, 49, pp.515~516 (2013)