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Journal Français d'Ophtalmologie
Volume 37, n° 8
pages e123-e124 (octobre 2014)
Doi : 10.1016/j.jfo.2013.10.010
Lettres à l'éditeur

Wildervanck syndrome: An uncommon cause of Duane syndrome
Le syndrome de Wildervanck: une cause rare du syndrome de Duane
 

H. Taylan Sekeroglu a, , P. Ozlem Sımsek-Kıper b, G. Eda Utıne b, K. Boduroglu b, A. Sefik Sanac a, E. Cumhur Sener a
a Department of Ophthalmology, Hacettepe University Faculty of Medicine, Sihhiye 06100 Ankara, Turkey 
b Department of Pediatrics, Division of Clinical Genetics, Hacettepe University Faculty of Medicine, Sihhiye 06100 Ankara, Turkey 

Corresponding author. Hacettepe University, Faculty of Medicine, Department of Ophthalmology, Sihhiye 06100 Ankara, Turkey.

Duane syndrome (DS) is a congenital eye movement disorder characterized by limitation of abduction and/or adduction accompanied with lid fissure narrowing, and globe retraction in attempted adduction [1]. DS has been estimated to be familial in 10% of cases and may be a part of some syndromes such as Wildervanck syndrome (OMIM 314600) that consists of congenital perceptive deafness, Klippel-Feil anomaly (congenitally fused cervical vertebrae) and DS associated with maldevelopement of cerebellum and brainstem, and vertebral segmentation anomalies [2]. This syndrome has been described by Wildervanck in 1952, and has been suggested to be due to a defect in axonal guidance and neuronal migration in the developing nervous system [3, 4]. The disorder is almost always seen in females, raising the possibility of a sex-linked dominance with lethality in hemizygous males, but polygenic inheritance is considered to be more likely [5]. Some central nervous system malformations have also been reported [6, 7]. Herein, we report two patients with Wildervanck syndrome. A 54-year-old man was admitted with decreased vision on his right eye. Postnatal history revealed sensorineural deafness confirmed by audiological testing. There was no consanguinity between parents and no family history. He had short stature and neck with a left head tilt. He had normal mental development. Globe retraction on attempted adduction was significant bilaterally. Best-corrected visual acuity was 20/25 on the right eye and 20/50 on the left eye. Slit lamp examination disclosed nuclear sclerosis with normal fundus examination. Prism cover test revealed a right hypertropia of 16 prism diopters (PD) at near, 25 PD right esotropia at distance. He was considered as having type I DS bilaterally (Figure 1). Further radiological evaluation disclosed craniocervical junction anomalies considered as Chiari type I malformation, brainstem dysplasia that was prominent at the level of pons and narrowing of the right internal acoustic channel.



Figure 1


Figure 1. 

Bilateral globe retraction on adduction, and apparent abduction deficit (patient 1).

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A 13-year-old girl was seen because of inward deviation of her left eye. Medical history revealed conductive type hearing loss confirmed by audiological testing, familial Mediterranean fever and a clinical diagnosis of Wildervanck syndrome. There was no consanguinity between parents. The patient had the diagnosis of Wildervanck syndrome when she was two years old and was clinically reported [6]. She did not come to follow-up visits at Pediatric Genetics clinic. Physical examination revealed body weight 62kg (90–97 centile), body height 149cm (10 centile) and head circumference 60cm (+2SD). A short, webbed neck with limited movements, facial asymmetry was noted. She had mild intellectual disability. Lateral cervical radiographs demonstrated cervical fusion anomalies with sagittal constriction of the vertebral bodies down to C7. Magnetic resonance imaging revealed segmentation anomalies, platybasia with basiocciput hypoplasia. Her best-corrected visual acuity was 20/25 in the right eye, and 20/50 in the left eye. She had no measurable manifest deviation. She was considered as having right type III and left type I DS. Ophthalmological examination was otherwise normal.

Discussion

Wildervanck syndrome is one of the congenital anomalies that is associated with Duane syndrome. The association of DS with non-ocular disorders had been previously reported. Zanin et al., reviewed the data collected from patients with DS [8]. Of the 94 patients, 17% were bilaterally affected. They found that in bilateral DS the visual acuity was lower, abnormal head position was more significant, alphabetical patterns and accompanying congenital anomalies were more frequent compared to unilateral form [8]. They defined the non-ocular anomalies such as crocodile tears, facial nerve palsy, mental and psychomotor retardation [8]. In this report while the first patient was mentally normal, the latter one had mild intellectual disability.

Mohan et al., demonstrated that unilateral type I DS was associated with systemic anomalies in 6% of patients, whereas among patients with bilateral Duane syndrome 10% had systemic anomalies [9]. Khan and Oystreck investigated the clinical characteristics of bilateral DS [10]. They found that bilaterality was more common in males with a higher prevalence of deviation [10]. Of the patients who were bilaterally involved, 24% had associated ocular and non-ocular anomalies [10]. The diagnosis of Wildervanck syndrome is important because of severe complications such as vertebral artery dissection induced stroke, multiple embolic infarctions, and cardiovascular abnormalities [7]. Patients should be investigated for craniospinal abnormalities with magnetic resonance imaging as was the case in both patients. However, neither of them had any of the signs of severe neurologic complications.

As conclusion, bilateral Duane syndrome may present as ocular finding of Wildervanck syndrome, and therefore warrants careful clinical and radiological evaluation for any possible underlying systemic disorders.

Disclosure of interest

The authors declare that they have no conflict of interest concerning this article.

References

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Khan A.O., Oystreck D. Clinical characteristics of bilateral Duane syndrome J AAPOS 2006 ;  10 : 198-201 [cross-ref]



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