Högen, T., Chan, WM., Riedel, E. et al. J Neurol (2012) 259: 761. doi:10.1007/s00415-011-6239-y
Cell outgrowth and migration in the developing nervous system result from guidance cues, whose molecular bases and clinical correlates are only partly known. We describe a patient with brain stem malformation, paroxysmal left sided lacrimation when eating (“crocodile tears”) and mirror movements in addition to Wildervanck’s cervico-oculo-acusticus (COA) syndrome, which encompasses Klippel–Feil anomaly, congenital hearing loss and Duane’s syndrome. The unique symptom constellation has not been reported in that combination before and can be discussed in the context of congenital disordered axonal migration based on dysfunction of signalling pathways. However, mutations in some recently discovered genes, associated with single findings also present in our patient, were not found. Therefore, we suppose that the disturbance of an as yet unknown regulatory factor may explain the congenital malformation syndrome of our patient. In general, only a few human disorders have yet been found to result from defects in axon guidance. Nevertheless, disorders of axon guidance can certainly be regarded as a new category of neurodevelopmental disorders.
Supplementary material 1 (MPG 21099 kb). Video length 2 min 3 s (7.83 MB). Translation of the spoken German text in the video: “Please look at the camera, please look right and keep your eyes there and look straight ahead again. Please look to the left and straight ahead. Please look to the right and straight ahead. Please clench and unclench only your right fist. Please clench and unclench only your left fist. Please move your fingers only of the right hand. Please move your fingers only of the left hand. Please touch your first with your second finger of your right hand, then first and third, then first and fourth and then first and fifth. Please repeat the same movements only with your left hand. Please clench and unclench only your right fist. Please clench and unclench only your left fist. Please lift and move only your right foot. Please move only your left foot.”