Horizontale Blickparese mit progredienter Skoliose

Patient

Ein 7 Monate altes Mädchen wurde mit einer seit der 7. Lebenswoche bestehenden Kopfzwangshaltung sowie Verdacht auf beidseitige Abduzensparese zugewiesen.

• Literatur

• 1 Volk AE, Carter O, Fricke J et al. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. Mol Vis 2011; 17: 1978-1986
• 2 Rossi A, Catala M, Biancheri R et al. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR Am J Neuroradiol 2004; 25: 1046-1048
• 3 Assaf AA. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) 2011; 25: 1251-1261
• 4 Traboulsi EI. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc 2004; 102: 373-389
• 5 Jen JC, Chan WM, Bosley TM et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004; 304: 1509-1513
• 6 Engle EC. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol 2010; 2: a001784
• 7 Nugent AA, Kolpak AL, Engle EC. Human disorders of axon guidance. Curr Opin Neurobiol 2012; 22: 837-843
• 8 Chan WM, Traboulsi EI, Arthur B et al. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet 2006; 43: e11