Journal of Pediatric Ophthalmology and Strabismus

Short Subjects 

Crocodile Tears and Dandy-Walker Syndrome in Cervico-oculo-acoustic Syndrome

Gühanim Haciyakupoglu, MD; Aysel Anli Pelit, MD; Sakir Altunbasak, MD; Süreyya Soyupak, MD; Caner Özer, MD

Abstract

INTRODUCTION

A 13-year-old girl with crocodile tears and Dandy-Walker syndrome in addition to Duane's retraction syndrome, Klippel-Feil syndrome, and deafness is presented. To our knowledge, association of Dandy-Walker syndrome and crocodile tears with this rare syndrome has not been reported previously.

Cervico-oculo-acoustic syndrome (COAS) was first described by Wildervanck in 1952. The syndrome is characterized by the triad of Klippel-Feil syndrome, Duane's retraction syndrome, and congenital hearing loss.1,2

Klippel-Feil syndrome, a congenital malformation, is a decreased number of and partial or complete fusion of the cervical and, occasionally, upper thoracic vertebrae. The classic clinical triad is composed of an extremely short neck with limited movement and a low posterior hair line.3

Dandy- Walker syndrome includes malformations of the fourth ventricle and cerebellum. Various cerebral anomalies, such as enlargement of the fourth ventricle, hypoplasia or agenesia of the posterior vermis, rudimentary cerebral hemispheres may accompany Dandy-Walker syndrome.4 The association of Dandy-Walker syndrome and COAS has not been reported.

Duane's retraction syndrome in its classic form is characterized by severe limitation of abduction, slight limitation of adduction, globe retraction, and narrowing of the palpebrai fissure on abduction. Variations of this special form have been described.5

The present report describes a case with multiple congenital anomalies in addition to complete triad of COAS.

CASE REPORT

A 13-year-old girl admitted to the Department of Ophthalmology, Cukurova University with a complaint of lacrimation while eating and squint since birth. She was botn spontaneously at term with low birth weight after an uncomplicated pregnancy. Her personal history revealed developmental delay: she walked at 36 months and talked at 48 months. There was no history of familial anomalies.

Ophthalmologic examination revealed a visual acuity of 20/20 in both eyes. Slit-lamp and fundus examinations were within normal limits. Ocular motility examination revealed bilateral Duane's syndrome with limited abduction, globe retraction, and narrowing of the palpebrai fissure on adduction (Figures 1, 2). We also observed tearing while chewing.

On physical examination, she was of short stature (1.35 m) with a head circumference of 55 cm (Figure 3). Her neck was extremely short with severe restriction of neck movements. Posterior hair-line was low; thoracic scoliosis was present. There was a 6x5-cm mass in the neck (Figure 4). We observed mirror movements (synkinesis) of the upper extremities.

Audiometric examination revealed mixed hearing loss in the left ear. Assessment of her intellectual function revealed moderate mental retardation. Examination of cardiac, gastrointestinal, and urogenital systems did not reveal any pathologic finding.

Cases with an incomplete classical triad of COAS have been described in literature.3 The patient presented here had multiple congenital anomalies in addition to the complete triad of COAS.

Wildervanck stated that deafness should be sensorineiiral in type and tomographic examination demonstrated an abnormality of the vestibular labyrinth in most of these cases.7 However, cases with conductive or mixed losses have been reported.2'8 Thus, in our case, hearing loss was mixed in type and tomographic examination did not reveal a pathological finding.

Dandy-Walker syndrome consists of cystic transformation of the fourth ventricle, rudimentary cerebral hemispheres, and hypoplasia or absence of posterior vermis.4 In addition to these findings, our case had dysgenesis of the corpus callosum splenium, hydromyelia, and encephalocele.

Wildervanck's syndrome is known to be the most common multiple congenital abnormality found in association with Duane's syndrome.5·10·11 The lateral thoracic meningocele is the protrusion of the spinal meninx from the defect of vertebral columns or foramina. The collaboration of this rare spinal malformation with neurofibromatosis is common.12

Crocodile tears is a unilateral or bilateral secretion anomaly of the lacrimal gland. Anticipation or taste of food provokes excessive tearing. This gustatory lacrimal reflex…

INTRODUCTION

A 13-year-old girl with crocodile tears and Dandy-Walker syndrome in addition to Duane's retraction syndrome, Klippel-Feil syndrome, and deafness is presented. To our knowledge, association of Dandy-Walker syndrome and crocodile tears with this rare syndrome has not been reported previously.

Cervico-oculo-acoustic syndrome (COAS) was first described by Wildervanck in 1952. The syndrome is characterized by the triad of Klippel-Feil syndrome, Duane's retraction syndrome, and congenital hearing loss.1,2

Klippel-Feil syndrome, a congenital malformation, is a decreased number of and partial or complete fusion of the cervical and, occasionally, upper thoracic vertebrae. The classic clinical triad is composed of an extremely short neck with limited movement and a low posterior hair line.3

Dandy- Walker syndrome includes malformations of the fourth ventricle and cerebellum. Various cerebral anomalies, such as enlargement of the fourth ventricle, hypoplasia or agenesia of the posterior vermis, rudimentary cerebral hemispheres may accompany Dandy-Walker syndrome.4 The association of Dandy-Walker syndrome and COAS has not been reported.

Duane's retraction syndrome in its classic form is characterized by severe limitation of abduction, slight limitation of adduction, globe retraction, and narrowing of the palpebrai fissure on abduction. Variations of this special form have been described.5

The present report describes a case with multiple congenital anomalies in addition to complete triad of COAS.

CASE REPORT

A 13-year-old girl admitted to the Department of Ophthalmology, Cukurova University with a complaint of lacrimation while eating and squint since birth. She was botn spontaneously at term with low birth weight after an uncomplicated pregnancy. Her personal history revealed developmental delay: she walked at 36 months and talked at 48 months. There was no history of familial anomalies.

Ophthalmologic examination revealed a visual acuity of 20/20 in both eyes. Slit-lamp and fundus examinations were within normal limits. Ocular motility examination revealed bilateral Duane's syndrome with limited abduction, globe retraction, and narrowing of the palpebrai fissure on adduction (Figures 1, 2). We also observed tearing while chewing.

On physical examination, she was of short stature (1.35 m) with a head circumference of 55 cm (Figure 3). Her neck was extremely short with severe restriction of neck movements. Posterior hair-line was low; thoracic scoliosis was present. There was a 6x5-cm mass in the neck (Figure 4). We observed mirror movements (synkinesis) of the upper extremities.

Audiometric examination revealed mixed hearing loss in the left ear. Assessment of her intellectual function revealed moderate mental retardation. Examination of cardiac, gastrointestinal, and urogenital systems did not reveal any pathologic finding.

Figure 1: Lrmiled abduction in the right eye, globe retraction and narrowing of the palpebrai fissure on adduction in the left eye,

Figure 1: Lrmiled abduction in the right eye, globe retraction and narrowing of the palpebrai fissure on adduction in the left eye,

Figure 2: Globe retraction and narrowing of the palpebrai fissure in adduction of the right eye, limited abduction in the left eye.

Figure 2: Globe retraction and narrowing of the palpebrai fissure in adduction of the right eye, limited abduction in the left eye.

Figure 3: Short stature and thoracic scoliosis.

Figure 3: Short stature and thoracic scoliosis.

4: Low panda. hairlin., than n.dc and a m~ of 635 I cm in the neck.

4: Low panda. hairlin., than n.dc and a m~ of 635 I cm in the neck.

Figure 5: Complete fusion of C-1, C-2, C-3, partial fusion of C4, C-5, cervical costa in C-7.

Figure 5: Complete fusion of C-1, C-2, C-3, partial fusion of C4, C-5, cervical costa in C-7.

Figure 6: Lateral thoracic rneningocele.

Figure 6: Lateral thoracic rneningocele.

Plain radiography revealed complete fusion of ?1, C-2, and C-3 vertebrae including dense, partial fusion at die corpus of C-4 and C-5 vertebrae (Figure 5). We also observed thoracic scoliosis and sacral spina bifida. Partial fusion was found in the thoracic vertebrae. We observed dense hypoplasia, an enlarged foramen magnum, spina bifida of C-I and C-2, encephalocele, lateral thoracic meningocele, and bilateral loss of mastoid aeration in computed tomographic examination (Figure 6). Cervical and cerebral magnetic resonance imaging revealed Dandy- Walker syndrome, cerebellar hypoplasia, vermian agenesis, corpus callo s urn splenium dys genesis, cranium bifidum, asymmetry of the cranium especially at the posterior fossa, partial platybasia, an encephalocele at the proximal cervical region, hydromyelia, and a defect in the posterior proximal part of die medulla spinalis (Figures 7,8).

DISCUSSION

Sporadic occurrence of unknown etiology is common.1 A careful evaluation of family members is indicated, as autosomal dominant inheritance with complete penetrance and variable expressivity has been suggested. 2'fi There is a tenfold female to male preponderance.1'2·6 Our female patient's family had no history of any congenital malformations.

Figure 7: Dandy Walker anomaly, cerebellar hypoplasia, corpus callosum splenium dysgenesis, encephalocele.

Figure 7: Dandy Walker anomaly, cerebellar hypoplasia, corpus callosum splenium dysgenesis, encephalocele.

Figure B: Cystic enlargement at the posterior fossa, encephalocele and fusion of cervical vertebrae.

Figure B: Cystic enlargement at the posterior fossa, encephalocele and fusion of cervical vertebrae.

Cases with an incomplete classical triad of COAS have been described in literature.3 The patient presented here had multiple congenital anomalies in addition to the complete triad of COAS.

Wildervanck stated that deafness should be sensorineiiral in type and tomographic examination demonstrated an abnormality of the vestibular labyrinth in most of these cases.7 However, cases with conductive or mixed losses have been reported.2'8 Thus, in our case, hearing loss was mixed in type and tomographic examination did not reveal a pathological finding.

Dandy-Walker syndrome consists of cystic transformation of the fourth ventricle, rudimentary cerebral hemispheres, and hypoplasia or absence of posterior vermis.4 In addition to these findings, our case had dysgenesis of the corpus callosum splenium, hydromyelia, and encephalocele.

Wildervanck's syndrome is known to be the most common multiple congenital abnormality found in association with Duane's syndrome.5·10·11 The lateral thoracic meningocele is the protrusion of the spinal meninx from the defect of vertebral columns or foramina. The collaboration of this rare spinal malformation with neurofibromatosis is common.12

Crocodile tears is a unilateral or bilateral secretion anomaly of the lacrimal gland. Anticipation or taste of food provokes excessive tearing. This gustatory lacrimal reflex is explained by misdirection of regenerating salivary axons. On rare occasions, this autonomie dyskinesia is congenital.9 No previous report about the association of bilateral crocodile tears and lateral thoracic meningocele with COAS has been described.

To our knowledge, there are only 38 cases with Wildervanck's syndrome in literature. This patient is the 39th case with bilateral crocodile tears, lateral thoracic meningocele, and Dandy- Walker syndrome in addition to COAS. The existence of these anomalies in our case may be coincidental as it has not been reported previously, or may be an extended part of the syndrome.

REFERENCES

1. Hughes PJ, Davies PT, Roche SW, Matthews TD. Lane JR. Wildervanck OT cervico-oculo-acoustic syndrome and MRI finding. JNcaramrg Psychiatry. 1991 [54:503-504.

2. Gupte G, Mahajan P, Shreenivas VK, Kher A, Bharucha BA. Wildervanclc syndrome (cervico-oculo-acoustic syndrome). / Pongrad Med. 1992;38:1SO-182.

3. Greenberg MS. Developmental anomalies. In: Johnson NA, cd. Handbook of Nfuresurgtry. Florida: Greenberg Graphics Ine; 1993:147-175.

4. Jacobson Rl. Congenital structural defeco. In: Swaiman KF, ed. Pediatric nrumlogy. St Louis, Mo: CV Mosby Co; 1989:329-333.

5. Kanski JJ. Strabismus. In: Kanski ]J, ed. Clínica! Ophthalmology. London, England: Butterwort Heincmann Ltd; 1992:11-437.

6. Von Noorden GK. Special forms of strabismus. In: von Noorden GK, ed. Binocular Vision and Ocular Metility. St Louis, Mo: CV Mosby Co; 1990:398-404.

7. Sholapuiker SL. Dhall Gl. Cervico-oculo-acoustic syndrome with pregnancy. Gyntcol Otnet Invest. 1991:31:116-1 18.

8. Wildervanck SL The cervico-oculo-acoustic syndrome. In: Vinken PJ, Bniyn GW, Myranthopoulos NC, eds. Handbook of Clinical Neurology. New York, NY: North Holland Publishing Co; 1978:123-130.

9. Cremers CWKJ, Hoogland GA. Hearing loss in the cervico-oculoacoustic (Wildervanck) syndrome. Arch OtolaryngpL 1984; 110:5457.

10. Laurence KM. Tew BJ. Natural history of spine faifidum cysticum; Major central nervous system malformations in South Wales: pan IV Arch Du Child. 1971:46:127-138

11. Kaiser MC, Deslegte RG, Crezee FC, WaIkJ. Anterior cervical meningocele in neurofibromatosis. AJNR. 1986;7:127-138.

12. Glaset JS. Neuro-Ophthalmologic examination. In: DuaneTO. ed General Coraidenttiom and Special Ttcbniquti. St Louis, Mo: Harper and Row; 1980:1-38.

10.3928/0191-3913-19990901-14

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