Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings

Abstract

Cervico-oculo-acoustic (COA) or Wildervanck syndrome is characterized by the triad of Klippel-Feil anomaly, bilateral abducens palsy with retracted bulbs (Duane 'syndrome') and hearing loss. The clinical findings of this syndrome have been well documented. A few case reports with MRI findings have appeared in the literature showing brainstem and cerebellar hypoplasia and vertebral segmentation anomalies. Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular hydrocephalus in a child with Wildervanck syndrome. This case is presented with MR images. Children with Wildervanck syndrome should be investigated for craniospinal abnormalities with MR imaging.

Occipito-Vertebral Dissociation in Connection with Extensive Cervical Spine Malsegmentation in a Boy with Möbius Syndrome

“…Facial weakness, Duane anomaly, and vertebral abnormalities are a well-known set of malformation complexes that occur in association with Goldenhar,15 Wildervanck,16 and Hanhart syndromes 17. The overall clinicoradiographic features of our patient did not fit any of these syndromic entities.…”

Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome

“…24 Perhaps most tellingly, Wildervanck is now commonly assumed to be due to an X chromosome abnormality, [25][26][27] and she had no obvious abnormality of the X chromosome on array CGH. As in this patient, KFS is commonly associated with diastematomyelia, 14,28,29 but the genetics of this association is not yet understood. Neuroenteric cysts have also been reported with diastematomyelia, 30 which may imply an abnormality arising as early as the embryonic disk with an abnormal communication between the yolk sack and the amniotic cavity.…”

Torticollis following tympanoplasty: an index case with lessons in encountering the unexpected

“…This is characterised by bony abnormalities, usually fusion of the cervical vertebral bodies. It may present clinically with short neck, reduced cervical range of movement and a low posterior hairline 6. In a study of 288 children with torticollis, 53 had a non-muscular aetiology for torticollis and 30% of them had Klippel-Feil anomaly 3.…”