Clin Neuroradiol DOI 10.1007/s00062-013-0270-6
Correspondence
Findings in a Patient with Wildervanck Syndrome P. A. Dimitriadis · S. Mackeith · C. Archibald · S. Hussain · N. Mansell
Received: 29 August 2013 / Accepted: 23 October 2013 © Springer-Verlag Berlin Heidelberg 2013
Background Wildervanck syndrome is a combination of congenital anomalies characterized by deafness, fusion of the cervical vertebral bodies and an unusual ocular motility disorder (Duane retraction syndrome). This syndrome is rare in the general population and, as in our case, may not be recognized until later in life since the external appearance of the ears may be normal, and the unusual form of strabismus may not be obvious to the non-ophthalmologist. In our case, high resolution computed tomography (HRCT) demonstrated a collection of congenital inner ear malformations, which, when considered alongside the congenital ocular and cervical abnormalities allowed for a unifying diagnosis to be made. Case Report A 46-year-old female with profound deafness presented to clinic (accompanied by a signing interpreter) requesting consideration for cochlear implantation. As a child, her congenital moderate/severe deafness had been attributed to an episode of birth hypoxia although she had also suffered from an episode of meningitis. She had been treated with hearing aids and had been able to manage with daily life
P. A. Dimitriadis () · S. Mackeith · N. Mansell Department of ENT, Royal Berkshire Hospital, London Road, RG1 5AN Reading, UK e-mail: [email protected] C. Archibald · S. Hussain Department of Radiology, Royal Berkshire Hospital, London Road, RG1 5AN Reading, UK
although had not developed normal speech. At the age of 26, she suffered from a sudden loss of her remaining hearing and since then had not worn hearing aids and relied on lip reading. Her past medical history included visual problems due to Duane syndrome (strabismus due to abducens palsy with retraction of the globe in adduction) with associated mild reduction in visual acuity. She had two children, both of whom have normal hearing. On examination, the left tympanic membrane was normal. On the right-hand side, there was a small clean attic retraction pocket. Visual acuity was reduced on both sides (6/9 in the left and 6/12 in the right eye). She was noted to have limited neck extension. The remaining findings on head and neck examination were normal. Computed tomography (CT) and magnetic resonance imaging (MRI) were requested to assess the feasibility of cochlear implantation. Temporal bone CT findings included: bilateral Mondini malformation as described by Carlos Mondini in 1791 (fusion of the middle and apical cochlear turns, dilated vestibule and enlarged vestibular aqueduct) [1], absence of the modiolus, and stenosis of the cochlear aperture on the right (Fig. 1a–d). In the left side, there is a ‘vestigial’ remnant of the common crus, which appears to be separated from the dysplastic vestibule, as demonstrated in Fig. 2. The MRI showed bilateral absence of abducens nerves (Fig. 3) consistent with Duane syndrome and absence of the cochlear nerve on the right side. Otherwise, there were normal findings in the cerebello-pontine angle. Fusion of the C1-C2 vertebrae in the neck was also noted (Fig. 4a, b). The external auditory canals, middle ears and mastoids did not reveal any congenital abnormalities. There was marked ossification in the cochleae as a possible sequelae of the patient’s previous meningitis.
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P. A. Dimitriadis et al. Fig. 3 MRI brain: arrows pointing to area where abducens nerve would be normally seen. (It emerges from nuclei anterior to the fourth ventricle, then courses anteriorly through the pons to the pontomedullary junction)
Fig. 1 Axial CT-images from caudal to cranial showing a malformed cochlea with slightly dilated turns, fused apical and middle turns and an absent modiolus (MD: Mondini dysplasia) (a), dysplastic vestibule (VD) with adjacent lateral semicircular canal (LSCC) (b), an atretic cochlear nerve canal (CNC) (c), and a wide vestibular aqueduct (WVA) (d)
Fig. 2 Sagittal CT left temporal bone: vestigial remnant of the common crus, which appears to be separated from the dysplastic vestibule. SSCC superior semicircular canal, PSCC posterior semicircular canal
Discussion Wildervanck syndrome or cervico-oculo-acoustic syndrome is a very uncommon congenital disease. It was first described by Wildervanck in 1952 [2], and comprises Klippel–Feil anomaly, Duane syndrome and congenital hearing loss. It displays a 10–1 preponderance of females, but its true incidence is unknown since the external appearances of the ears may be normal, the unusual form of strabismus may go unnoticed by the non-specialist and the individual may be asymptomatic [3]. The Klippel–Feil anomaly is characterized 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 [4]. Duane syndrome is a congenital ocular motility disorder characterized by limited or absent abduction or adduction of the eyeball with widening of the palpebral fissure on abduc-
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tion and retraction of the globe with narrowing of palpebral fissure on adduction. It is bilateral in 20 % of cases [5]. Hearing impairment is typically sensorineural, though, rarely, can be mixed due to anomalies of the ossicular chain [6]. Genetics The mode of inheritance is not clearly established. However, since it is almost always females who are affected, it is thought to be an X-linked disorder with lethality in hemizygous males [7]. Polygenic heredity with sex limitation to the female and autosomal dominant inheritance have also been suggested [5]. When genetic disruption is active during early brainstem development, the development of the abducens nerves, inner ear and other structures (orthopaedic, heart, vessels) may be abnormal or absent [7]. Radiology Radiographic studies show varying degrees of abnormality of the middle and inner ears including aural atresia, abnormal or absent ossicles, cochlear dilatation and dysplasia with abnormal development of cochlear turns [8]. Findings regarding the vestibular apparatus include dysplasia or absence of the semicircular canals and/or the vestibule [7]. There are rare cases of associated cerebellar hypoplasia, malformation of the lower brainstem and/or triventricular hydrocephalus [4, 5, 7]. In our case, the MRI showed the abducens nerve to be absent bilaterally, which is a recognized finding in Duane syndrome. Interestingly, however, lateral rectus muscle bulk was preserved. This is believed to be due to acquired innervation from the oculomotor nerve. Pathology Histopathologic studies of Wildervanck syndrome are scarce. Anomalies that have been described mainly concern the middle and inner ears; dysplastic or malformed ossicles with abnormal articulation and even fixation of the ossicles of the middle ear have been described. In the inner ear, mal-development of the labyrinth and cochlea, with absence of the organ of Corti and loss of normal architecture, as well as absence of the eighth nerve in the internal auditory meatus, have been reported [9]. Taking into account her lack of auditory stimulus over the last 20 years, in combination with the structural inner ear abnormalities identified on imaging (including the absence of
Findings in a Patient with Wildervanck Syndrome
3
Fig. 4 Axial (a) and coronal (b) images demonstrating vertebral anomalies. There is fusion of the anterior arch of C1 with the dens of C2 (arrow in a); occipital condyles (stars)
cochlear nerve on one side), it was felt that cochlear implantation was not appropriate in her case. It should be noted, however, that cochleovestibular anomalies do not always preclude successful outcomes from cochlear implantation, particularly if identified and treated early, and preferably by a team with experience treating these difficult cases [10]. Conflict of Interest On behalf of all authors, the corresponding author states that there is no conflict of interest.
References 1. Schuknecht HF. Mondini dysplasia; a clinical and pathological study. Ann Otol Rhinol Laryngol Suppl. 1980;89(1 Pt 2):1–23. 2. Wildervanck LS. [A case of Klippel-Feil’s syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism]. Ned Tijdschr Geneeskd 1952;96(44):2752–6. 3. Schild JA, Mafee MF, Miller MF. Wildervanck syndrome–the external appearance and radiologic findings. Int J Pediatr Otorhinolaryngol. 1984;7(3):305–10.
4. Balci S, Oguz KK, Firat MM, Boduroglu K. Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. Clin Dysmorphol. 2002;11(2):125–8. 5. Di Maio L, Marcelli V, Vitale C, Menzione M, De Giorgio A, Briganti F, et al. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents. Can J Neurol Sci. 2006;33(2):237–9. 6. Cremers CW, Hoogland GA, Kuypers W. Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. Arch Otolaryngol. 1984;110(1):54–7. 7. Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, et al. Xq26.3 Microdeletion in a Male with Wildervanck Syndrome. Ophthalmic Genet. 2013 Feb 1. [Epub ahead of print] 8. Schuknecht HF, Merchant SN, Nadol JB. Schuknecht’s pathology of the ear. 3rd ed. Shelton, CT: People’s Medical Pub. HouseUSA, 2010. 9. McLay K, Maran AG. Deafness and the Klippel-Feil syndrome. J Laryngol Otol. 1969;83(2):175–84. 10. Chadha NK, James AL, Gordon KA, Blaser S, Papsin BC. Bilateral cochlear implantation in children with anomalous cochleovestibular anatomy. Arch Otolaryngol Head Neck Surg. 2009;135(9):903–9.
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Correspondence
Findings in a Patient with Wildervanck Syndrome P. A. Dimitriadis · S. Mackeith · C. Archibald · S. Hussain · N. Mansell
Received: 29 August 2013 / Accepted: 23 October 2013 © Springer-Verlag Berlin Heidelberg 2013
Background Wildervanck syndrome is a combination of congenital anomalies characterized by deafness, fusion of the cervical vertebral bodies and an unusual ocular motility disorder (Duane retraction syndrome). This syndrome is rare in the general population and, as in our case, may not be recognized until later in life since the external appearance of the ears may be normal, and the unusual form of strabismus may not be obvious to the non-ophthalmologist. In our case, high resolution computed tomography (HRCT) demonstrated a collection of congenital inner ear malformations, which, when considered alongside the congenital ocular and cervical abnormalities allowed for a unifying diagnosis to be made. Case Report A 46-year-old female with profound deafness presented to clinic (accompanied by a signing interpreter) requesting consideration for cochlear implantation. As a child, her congenital moderate/severe deafness had been attributed to an episode of birth hypoxia although she had also suffered from an episode of meningitis. She had been treated with hearing aids and had been able to manage with daily life
P. A. Dimitriadis () · S. Mackeith · N. Mansell Department of ENT, Royal Berkshire Hospital, London Road, RG1 5AN Reading, UK e-mail: [email protected] C. Archibald · S. Hussain Department of Radiology, Royal Berkshire Hospital, London Road, RG1 5AN Reading, UK
although had not developed normal speech. At the age of 26, she suffered from a sudden loss of her remaining hearing and since then had not worn hearing aids and relied on lip reading. Her past medical history included visual problems due to Duane syndrome (strabismus due to abducens palsy with retraction of the globe in adduction) with associated mild reduction in visual acuity. She had two children, both of whom have normal hearing. On examination, the left tympanic membrane was normal. On the right-hand side, there was a small clean attic retraction pocket. Visual acuity was reduced on both sides (6/9 in the left and 6/12 in the right eye). She was noted to have limited neck extension. The remaining findings on head and neck examination were normal. Computed tomography (CT) and magnetic resonance imaging (MRI) were requested to assess the feasibility of cochlear implantation. Temporal bone CT findings included: bilateral Mondini malformation as described by Carlos Mondini in 1791 (fusion of the middle and apical cochlear turns, dilated vestibule and enlarged vestibular aqueduct) [1], absence of the modiolus, and stenosis of the cochlear aperture on the right (Fig. 1a–d). In the left side, there is a ‘vestigial’ remnant of the common crus, which appears to be separated from the dysplastic vestibule, as demonstrated in Fig. 2. The MRI showed bilateral absence of abducens nerves (Fig. 3) consistent with Duane syndrome and absence of the cochlear nerve on the right side. Otherwise, there were normal findings in the cerebello-pontine angle. Fusion of the C1-C2 vertebrae in the neck was also noted (Fig. 4a, b). The external auditory canals, middle ears and mastoids did not reveal any congenital abnormalities. There was marked ossification in the cochleae as a possible sequelae of the patient’s previous meningitis.
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P. A. Dimitriadis et al. Fig. 3 MRI brain: arrows pointing to area where abducens nerve would be normally seen. (It emerges from nuclei anterior to the fourth ventricle, then courses anteriorly through the pons to the pontomedullary junction)
Fig. 1 Axial CT-images from caudal to cranial showing a malformed cochlea with slightly dilated turns, fused apical and middle turns and an absent modiolus (MD: Mondini dysplasia) (a), dysplastic vestibule (VD) with adjacent lateral semicircular canal (LSCC) (b), an atretic cochlear nerve canal (CNC) (c), and a wide vestibular aqueduct (WVA) (d)
Fig. 2 Sagittal CT left temporal bone: vestigial remnant of the common crus, which appears to be separated from the dysplastic vestibule. SSCC superior semicircular canal, PSCC posterior semicircular canal
Discussion Wildervanck syndrome or cervico-oculo-acoustic syndrome is a very uncommon congenital disease. It was first described by Wildervanck in 1952 [2], and comprises Klippel–Feil anomaly, Duane syndrome and congenital hearing loss. It displays a 10–1 preponderance of females, but its true incidence is unknown since the external appearances of the ears may be normal, the unusual form of strabismus may go unnoticed by the non-specialist and the individual may be asymptomatic [3]. The Klippel–Feil anomaly is characterized 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 [4]. Duane syndrome is a congenital ocular motility disorder characterized by limited or absent abduction or adduction of the eyeball with widening of the palpebral fissure on abduc-
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tion and retraction of the globe with narrowing of palpebral fissure on adduction. It is bilateral in 20 % of cases [5]. Hearing impairment is typically sensorineural, though, rarely, can be mixed due to anomalies of the ossicular chain [6]. Genetics The mode of inheritance is not clearly established. However, since it is almost always females who are affected, it is thought to be an X-linked disorder with lethality in hemizygous males [7]. Polygenic heredity with sex limitation to the female and autosomal dominant inheritance have also been suggested [5]. When genetic disruption is active during early brainstem development, the development of the abducens nerves, inner ear and other structures (orthopaedic, heart, vessels) may be abnormal or absent [7]. Radiology Radiographic studies show varying degrees of abnormality of the middle and inner ears including aural atresia, abnormal or absent ossicles, cochlear dilatation and dysplasia with abnormal development of cochlear turns [8]. Findings regarding the vestibular apparatus include dysplasia or absence of the semicircular canals and/or the vestibule [7]. There are rare cases of associated cerebellar hypoplasia, malformation of the lower brainstem and/or triventricular hydrocephalus [4, 5, 7]. In our case, the MRI showed the abducens nerve to be absent bilaterally, which is a recognized finding in Duane syndrome. Interestingly, however, lateral rectus muscle bulk was preserved. This is believed to be due to acquired innervation from the oculomotor nerve. Pathology Histopathologic studies of Wildervanck syndrome are scarce. Anomalies that have been described mainly concern the middle and inner ears; dysplastic or malformed ossicles with abnormal articulation and even fixation of the ossicles of the middle ear have been described. In the inner ear, mal-development of the labyrinth and cochlea, with absence of the organ of Corti and loss of normal architecture, as well as absence of the eighth nerve in the internal auditory meatus, have been reported [9]. Taking into account her lack of auditory stimulus over the last 20 years, in combination with the structural inner ear abnormalities identified on imaging (including the absence of
Findings in a Patient with Wildervanck Syndrome
3
Fig. 4 Axial (a) and coronal (b) images demonstrating vertebral anomalies. There is fusion of the anterior arch of C1 with the dens of C2 (arrow in a); occipital condyles (stars)
cochlear nerve on one side), it was felt that cochlear implantation was not appropriate in her case. It should be noted, however, that cochleovestibular anomalies do not always preclude successful outcomes from cochlear implantation, particularly if identified and treated early, and preferably by a team with experience treating these difficult cases [10]. Conflict of Interest On behalf of all authors, the corresponding author states that there is no conflict of interest.
References 1. Schuknecht HF. Mondini dysplasia; a clinical and pathological study. Ann Otol Rhinol Laryngol Suppl. 1980;89(1 Pt 2):1–23. 2. Wildervanck LS. [A case of Klippel-Feil’s syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism]. Ned Tijdschr Geneeskd 1952;96(44):2752–6. 3. Schild JA, Mafee MF, Miller MF. Wildervanck syndrome–the external appearance and radiologic findings. Int J Pediatr Otorhinolaryngol. 1984;7(3):305–10.
4. Balci S, Oguz KK, Firat MM, Boduroglu K. Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. Clin Dysmorphol. 2002;11(2):125–8. 5. Di Maio L, Marcelli V, Vitale C, Menzione M, De Giorgio A, Briganti F, et al. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents. Can J Neurol Sci. 2006;33(2):237–9. 6. Cremers CW, Hoogland GA, Kuypers W. Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. Arch Otolaryngol. 1984;110(1):54–7. 7. Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, et al. Xq26.3 Microdeletion in a Male with Wildervanck Syndrome. Ophthalmic Genet. 2013 Feb 1. [Epub ahead of print] 8. Schuknecht HF, Merchant SN, Nadol JB. Schuknecht’s pathology of the ear. 3rd ed. Shelton, CT: People’s Medical Pub. HouseUSA, 2010. 9. McLay K, Maran AG. Deafness and the Klippel-Feil syndrome. J Laryngol Otol. 1969;83(2):175–84. 10. Chadha NK, James AL, Gordon KA, Blaser S, Papsin BC. Bilateral cochlear implantation in children with anomalous cochleovestibular anatomy. Arch Otolaryngol Head Neck Surg. 2009;135(9):903–9.
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