Copyright 1998 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.1998
In 1952, Wildervanck1 described a cervico-oculo-acoustic syndrome consisting of Klippel-Feil deformity, abducens palsy with globe retraction, and congenital hearing loss. Subsequent reports have confirmed that the Wildervanck syndrome occurs sporadically, preferentially affects girls, and may be associated with paralysis of other lower cranial nerves.2 We describe a posterior fossa malformation complex with hypoplasia of the brainstem that was demonstrated by magnetic resonance imaging in a child with Wildervanck syndrome.
A 5-month-old girl was referred to us for evaluation of intermittent esotropia. She was born at 37 weeks gestational age and weighed 2.2 kg at birth. A maternal great-grandfather had a history of Sprengel deformity (congenital elevation of the scapula), but a fraternal twin and 2 older sisters had no malformations. The findings of a facial examination included esotropia, diminished lower facial tone, low-set ears, and bilateral hearing aids (Figure 1, A). Skeletal abnormalities included thoracic kyphosis; a webbed, foreshortened neck with decreased mobility; and bilateral Sprengel deformity. A neurologic consultation disclosed left peripheral facial palsy, poor elevation of the palate, and hyperreflexia of the lower extremities.
A, Facial photograph showing minimal esotropia in primary gaze. B, Secondary positions of gaze. C, Sagittal magnetic resonance image demonstrating diffuse hypoplasia of the pons (arrow) and medulla, with ectasia of the surrounding basilar cisterns, foramen magnum, and upper cervical canal. D, Parasagittal magnetic resonance image demonstrating foreshortening of the neck and severe thoracic kyphosis.
The patient was able to follow vertical optokinetic stimuli using either eye. Her pupils reacted normally to light, with no afferent pupillary defect. She had 20 prism diopters of intermittent esotropia in primary gaze associated with an inability to abduct either eye, mildly limited adduction of both eyes, and full vertical gaze (Figure 1, B). Attempted lateral gaze in either direction produced a widening of the palpebral fissure of the abducting eye and a narrowing of the palpebral fissure of the adducting eye. The left eyelids closed incompletely during blinking. Emotional tearing was absent in both eyes, but the left eye teared during oral feedings (ie, crocodile tears). Retinoscopy after cycloplegia disclosed a refractive error of +3.50+0.50×10° in the right eye and +5.00 in the left eye. This spectacle correction eliminated her esotropia in primary position.
Spinal x-ray films showed severe thoracic kyphosis with absent posterior arches of the upper cervical bodies, a widened interpedicular distance in the cervical and proximal thoracic spine, and fusion of the spinous processes of the third and fourth cervical vertebrae to the occiput. Computed tomographic scanning of the cervical spine showed fusion of the lateral vertebral masses. Magnetic resonance imaging of the head showed brainstem hypoplasia, primarily involving the pons and medulla, with ectasia of the basilar cisterns, foramen magnum, and upper cervical canal (Figure 1, C and D). Brainstem auditory evoked potentials were decreased bilaterally, contributing to a combined sensorineural and conductive hearing loss. The results of an echocardiogram disclosed dextrocardia. A fundoplication procedure with gastrostomy tube placement was performed when the patient was 4 months old because of swallowing incoordination, gastroesophageal reflux, and failure to thrive. The results of a chromosome analysis were normal.
Wildervanck syndrome comprises the clinical triad of Klippel-Feil deformity (fusion of ≥1 cervical vertebrae), Duane retraction syndrome, and hearing loss.3 The neck is short, thick, webbed, and immobile.3 The head seems to sit directly on the trunk. Other spinal deformities (spina bifida occulta, Sprengel deformity, hemivertebrae, fusion of the ribs, absent ribs, kyphosis, scoliosis, and basilar impression) may coexist. Hearing loss in patients with the Wildervanck syndrome may be sensorineural, conductive, or mixed and may be accompanied by malformations of the external ear, external acoustic meatus, ossicles, and bony labyrinth.3 Intelligence may be mildly to severely reduced.4
The differential diagnosis of Duane retraction syndrome associated with other lower cranial nerve palsies includes Möbius syndrome and oculoauriculovertebral dysplasia (ie, the Goldenhar spectrum). The finding of crocodile tears (paradoxical gustatory-lacrimal reflex) in our patient indicates misinnervation from a salivary branch of the paretic left facial nerve to the lacrimal gland. Its association with Duane retraction syndrome in this patient and in previous patients implicates an abnormality in the immediate vicinity of the abducens nucleus.5
The single previous report of magnetic resonance imaging in a case of Wildervanck syndrome showed a similar posterior fossa malformation with hypoplasia of the brainstem and cerebellum, basilar invagination, and failure of vertebral segmentation.6 In our case, magnetic resonance imaging showed enlargement of the prepontine cistern; ectasia of the foramen magnum; and diffuse hypoplasia of the brainstem, which accounted for the constellation of lower cranial nerve palsies (involving cranial nerves VI-VIII and possibly IX and X) observed clinically. This neuroimaging profile may prove useful in confirming future cases of Wildervanck syndrome and in distinguishing them from closely related malformation syndromes.
This study was supported in part by a grant from Research to Prevent Blindness Inc, New York, NY.
Reprints: Michael C. Brodsky, MD, Arkansas Children's Hospital, 800 Marshall, Little Rock, AR 72202.
Brodsky MC, Fray KJ. Brainstem Hypoplasia in the Wildervanck (Cervico-oculo-acoustic) Syndrome. Arch Ophthalmol. 1998;116(3):383-385. doi: