title: Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration?
abstract: 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.
authors.affiliation: Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Marchioninistr.15, 81377 Munich, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Högen
authors.forename: Wai-Man
authors.initials: WM
authors.lastname: Chan
authors.forename: Eva
authors.initials: E
authors.lastname: Riedel
authors.forename: Roland
authors.initials: R
authors.lastname: Brüning
authors.forename: Hannah H
authors.initials: HH
authors.lastname: Chang
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology* / Q000503:physiopathology; D000328:Adult; D001369:Axons / Q000473:pathology*; D002465:Cell Movement; D004370:Duane Retraction Syndrome / Q000473:pathology* / Q000503:physiopathology; D034381:Hearing Loss / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D006330:Heart Defects, Congenital; D006344:Heart Septal Defects, Atrial; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000473:pathology* / Q000503:physiopathology; D038061:Lower Extremity Deformities, Congenital; D008297:Male; D009069:Movement Disorders / Q000473:pathology* / Q000503:physiopathology; D055495:Neurogenesis; D009474:Neurons / Q000473:pathology; D038062:Upper Extremity Deformities, Congenital