Síndrome de Wildervanck: reporte de un caso clínico / Wildervanck syndrome: clinical case report

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome

Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.

Does head tilt influence facial appearance more than head turn?

Purpose: To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn. Methods: This cross-sectional comparative study was performed on 155 cases, including 58 patients with congenital pure head turn due to Duane retraction syndrome (DRS), 33 patients with congenital pure head tilt due to upshoot in adduction or DRS, and 64 orthotropic subjects as the control group. The facial appearance was evaluated by computerized analysis of digital photographs of patients' faces. Relative facial size (the ratio of the distance between the external canthus and the corner of the lips of both face sides) and facial angle (the angular difference between a line that connects two external canthi and another line that connects the two corners of the lips) measured as quantitative facial parameters. Qualitative parameters were evaluated by the presence of one-sided face, cheek, and nostril compression; and columella deviation. Results: The facial asymmetry frequency in patients with head tilt, head turn, and orthotropic subjects was observed in 32 (97%), 50 (86.2%), and 22 (34.3%), respectively (P < 0.001). In patients with head tilt and head turn, the mean facial angle was 1.78º ± 1.01º and 1.19º ± 0.84º, respectively (P = 0.004) and the mean relative facial size was 1.027 ± 0.018 and 1.018 ± 0.014, respectively (P = 0.018). The frequencies of one-sided nostril compression, cheek compression, face compression, and columella deviation in patients with pure head tilt were found in 19 (58%), 21 (64%), 19 (58%), and 19 (58%) patients, respectively, and in patients with pure head turn the frequencies were observed in 42 (72%), 37 (63%), 27 (47%), and 43 (74%), respectively. All quantitative and qualitative facial asymmetry parameters and facial asymmetry frequencies were significantly higher in head tilt and head turn patients as compared to the control group (P < 0.001). Conclusion: All facial asymmetry parameters in patients with head tilt and head turn were significantly higher than orthotropic subjects. The quantitative parameters such as relative facial size and facial angle were significantly higher in patients with pure head tilt than pure head turn. The results revealed that pure head tilt was associated with a higher prevalence of facial asymmetry than pure head turn.

Síndrome de pseudo-Duane secundario a Schwannoma de nervio abducens: Reporte de caso y revisión / Pseudo-Duane syndrome secondary to abducens nerve schwannoma: Case report and review

Reporte de caso de síndrome de pseudo-Duane asociado a schwannoma de nervio abducens y neurofibromatosis tipo 2 (NF2). Este síndrome es raro, caracterizado por limitación en abducción, retracción ocular, disminución de hendidura palpebral en abducción y restricción del recto medial ipsilateral en test de ducción forzada. La NF2 es también una enfermedad infrecuente caracterizada por tumores de sistema nervioso central y periférico. Los schwannomas de nervio abducens son también poco frecuentes, y se presentan comúnmente con diplopia. Se revisan brevemente estas enfermedades. Es el primer caso reportado de pseudo-Duane secundario a schwannoma de nervio abducens y NF2 según nuestro conocimiento.

A pseudo-Duane syndrome case associated with abducens nerve schwannoma and neurofibromatosis type 2 (NF2) is presented. This syndrome is a rare disease characterised by abduction limitation, ocular retraction, narrowing of the palpebral fissure in abduction, and ipsilateral medial rectus restriction on forced duction test. NF2 is also an uncommon disease which is characterised by peripheral and central nervous system tumours. Abducens nerve schwannomas are also uncommon and presents usually as diplopia. A short review of these diseases is given. This is the first case of pseudo-Duane secondary to abducens nerve schwannoma, to our knowledge.

Características clínicas y OCT-SA de pacientes con síndrome de tracción iridiana asociado a desprendimiento de retina regmatógeno. Reporte de tres casos / Clinical features and AS-OCT of patients with iris retraction syndrome following rhegmatogenous retinal detachment. Report of three cases

Introducción: se presenta una serie de 3 casos de síndrome de retracción iridiana (SRI) asociados a desprendimiento de retina regmatógeno (DRR) y desprendimiento coroideo. Objetivo: dar a conocer las características clínicas y tomográficas de tres pacientes con SRI asociado a desprendimiento de retina regmatógeno. Diseño del estudio: serie de casos. Resumen del caso: tres pacientes que presentaron DRR asociado a SRI. El tiempo de evolución promedio fue de 21 días (15-30 días), 2 de los 3 pacientes tuvieron resolución del SRI posterior al inicio de midriáticos y antes de ser intervenidos por el desprendimiento de retina, y 2 tuvieron presencia de proliferación vitreoretiniana (PVR) a pesar del corto tiempo de evolución. Adicionalmente estos 2 pacientes cursaron con desprendimientos coroideos. Todos los pacientes tuvieron un buen resultado estructural, AV menor o igual a 20/400, no redesprendimientos ni recurrencias de SRI durante el seguimiento. Conclusión: ante un paciente con SRI en el cual no sea posible valorar polo posterior, se debe tener en cuenta el diagnóstico de desprendimiento de retina regmatógeno. El SRI puede considerarse como un factor de mal pronóstico en pacientes con desprendimiento de retina regmatógeno.

Background: to report a 3 cases series of patients with iris retraction syndrome (IRS). Objective: introduce the clinical and tomographic features of tree patients with IRS following RRD. Study design: case series. Case summary: three patients presented IRS following RRD. They presented with an average evolution of 21 days (15 to 30 days), 2 patients had resolution of the IRS after mydriatics and before receiving surgical treatment for retinal detacthment, and 2 had vitreoretinal proliferation despite the short time. Besides, these 2 patients had choroidal detachments discovered in the operating room. All patients had good structural outcomes, visual acuity less or equal than 20/400, no re-detachment of the retina and no recurrence of IRS during follow up. Conclusion: the presence of a retinal detachment should be suspected in a patient with IRS in which it´s not possible to assess the posterior pole, and it should be considered a bad prognostic factor if present.

Síndrome de Pierre Robin associada à Síndrome de Duane familiar do tipo III / Pierre Robin Syndrome associated with type III familial Duane Retraction Syndrome

Resumo A síndrome de Pierre Robin (PRS) consiste em uma tríade de anomalias caracterizada por micrognatia, glossoptose e fissura de palato, comumente associada com outras síndromes e ocasionalmente com alterações oculares. Na Síndrome de Duane (DRS), há uma falha na inervação do reto lateral pelo VI nervo, com inervação anômala do reto lateral por fibras do III nervo. Ainda que a PRS já tenha sido associada com mais de 50 outras síndromes, não existe na literatura relato de casos de associação com a DRS familiar. Dessa forma, esse trabalho tem por objetivo relatar um caso dessa associação em um paciente de 29 anos com recorrência das síndromes na família.

Abstract The Pierre Robin Syndrome (PRS) consists of a triad of anomalies characterized by micrognathia, glossoptosis and fissure of the palate, usually associated with other syndromes e occasionally associated with ocular variations. In Duane Retraction Syndrome (DRS), there is a failure in the lateral rectus innervation by the VI cranial nerve, with anomalous innervation of the lateral rectus by fibers of the III nerve. Even though PRS has already been associated with more than 50 other syndromes, there is not any report in literature of association with familial DRS. Thus, this work aims to report a case of this association in a 29 years old patient with recurrence of the syndromes in the family.

Síndrome de Duane tipo II con upshoot marcado / Duane's syndrome type II with marked upshoot

El síndrome de Duane es una alteración de la motilidad ocular caracterizada por la retracción del globo ocular y el estrechamiento de la hendidura palpebral con la aducción, asociada a la restricción de la abducción, aducción o ambas. Han surgido muchas teorías sobre la etiología del síndrome de Duane, pero la mayoría de los autores coinciden en que es consecuencia de una alteración congénita del VI par craneal, con una inervación aberrante del recto lateral por el III par craneal. Esta es la causa más frecuente de inervación aberrante ocular congénita. Es más frecuente en el ojo izquierdo. El síndrome de Duane tipo I es el más frecuente, y es menos frecuente el tipo II. Presentamos dos pacientes masculinos de 11 y 37 años de edad respectivamente, con diagnóstico de síndrome de Duane tipo II, con exotropía de 15 grados por Hirchsberg en el ojo izquierdo y en el ojo derecho respectivamente; tortícolis mentón a la derecha, limitación de la aducción con estrechamiento de la hendiduda palpebral y marcado upshoot en relación con el ojo afecto. Se decide realizar reseción del recto lateral 8,0 mm del ojo afectado más Y split, para mejorar el marcado upshoot. Los pacientes después de la cirugía estaban en ortotropía sin upshoot, ni tortícolis(AU)

Duane's syndrome is an eye motility disorder characterized by globe retraction and palpebral fissure narrowing with adduction, associated to abduction restriction, adduction restriction or both. Many theories have been put forth about the etiology of Duane's syndrome, but most authors agree that it is the consequence of a congenital alteration of the sixth cranial pair with aberrant innervation of the lateral rectus by the third cranial pair. This is the most common cause of congenital aberrant ocular innervation, and is more frequent in the left eye. Duane's syndrome type I is the most common and type II is the least common. A presentation is provided of two male patients aged 11 and 37 years with a diagnosis of Duane's syndrome type II with 15 degree exotropia on Hirchsberg's scale in the left and right eye, respectively, chin torticollis to the right, adduction limitation with palpebral fissure narrowing, and marked upshoot in relation to the affected eye. It is decided to perform resection of the lateral rectus 8.0 mm from the affected eye plus Y split to improve the marked upshoot. After surgery the patients were on orthotropics without upshoot or torticollis(AU)

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.

Afecciones de la conjuntiva en pacientes con prótesis ocular / Conjunctival diseases of patients with ocular prothesis

OBJETIVOS: determinar las afecciones conjuntivales en pacientes con prótesis ocular. MÉTODOS: estudio observacional descriptivo longitudinal prospectivo, conformado por 62 pacientes (65 cavidades anoftálmicas) quienes acudieron al Servicio de Oculoplastia del Instituto Cubano de Oftalmología "Ramón Pando Ferrer" en el período de mayo a diciembre de 2010. Se analizaron la edad, el sexo, las causas de la pérdida ocular, el ojo afectado, la afección conjuntival, el tipo de cavidad, el tiempo de uso protésico, el resultado microbiológico, el manejo higiénico y la respuesta al tratamiento. RESULTADOS: se presentaron 23 pacientes de 40 a 59 años (37,1 %), de los cuales el sexo masculino mostró el 66,1 %. El traumatismo reveló el 40,3 % y el ojo derecho el 50 %. El 33,8 % presentó conjuntivitis alérgica; las retracciones de la conjuntiva reportaron el 18,5 %. El 67,5 % correspondió a cavidades atípicas con un tiempo de más de 366 días en el uso de la prótesis ocular. El resultado microbiológico positivo en 55 cavidades fue de 84,6 %. Se aisló el Staphylococcus aureus en el 70,9 % y de ellos el 41,5 % se efectuó con manejo diario de la prótesis. La respuesta al tratamiento fue buena en el 76,4 %. CONCLUSIONES: las afecciones conjuntivales de los pacientes con prótesis ocular constituyen un problema de salud. Asimismo, la mayoría de las cavidades anoftálmicas son atípicas en adultos, con pérdida del globo ocular por traumatismo. La conjuntivitis alérgica y la retracción conjuntival son las afecciones más frecuentes en los pacientes con prótesis ocular de más de un año de uso, por la presencia de Staphylococcus aureus a consecuencia de mayor manipulación higiénico protésica, aunque en la mayoría de los casos existe buena respuesta al tratamiento.

OBJECTIVES: to determine the conjunctival diseases of patients with ocular prosthesis. METHODS: prospective, longitudinal, descriptive and observational study of 62 patients (65 anophthalmic cavities) who went to the Oculoplasty service of "Ramon Pando Ferrer" Cuban Institute of Ophthalmology from May to December 2010. Age, sex, causes of eye loss, affected eye, conjunctival disease, type of cavity, length of time of prosthesis use, microbiological result, hygienic handling and response to treatment were the analyzed variables. RESULTS: in the studied group, the 40-59 y age group accounted for 37,1 % of patients; males were predominant with 66,1 %. Traumatism was observed in 40,3 %, being the right eye the most affected in 50 % of cases. Likewise, 33,8 % presented with allergic conjunctivitis and 18,5 % had conjunctival retractions. Atypical cavities represented 67,5 % with over 366 days of using the ocular prosthesis. The positive microbiological result was found in 55 cavities for 84,6 %. Staphylococcus aureus was isolated in 70,9 % of cavities and 41,5 % with daily handling of the ocular prosthesis. The response to treatment was good in 76,4 % of patients. CONCLUSIONS: conjunctival diseases in patients with ocular prosthesis are a health problem. Similarly, most of the anophthalmic cavities are atypical in adults with loss of eyeball from traumatism. Allergic conjunctivitis and conjunctival retraction are the most frequent illnesses in the patients wearing ocular prosthesis for more than one year, due to Staphylococcus aureus presence resulting from frequent hygienic handling of the prosthesis. The majority of patients positively responded to treatment.

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.

We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane’s retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.

Aplicaciones del gore-tex en oftalmología / Applications of gore-tex in ophthalmology

OBJETIVO: evaluar los resultados terapéuticos en la corrección quirúrgica de afecciones oculares, con el uso del Gore-tex y con la modificación realizada a la técnica quirúrgica convencional de la suspensión al frontal. MÉTODOS: se realizó un estudio descriptivo prospectivo en una serie de 16 casos: 7 con ptosis, 5 con estrabismo y 4 con retracción palpebral inferior. Para la corrección de la retracción y la ptosis se utilizaron fragmentos del referido material y una sutura de Gore-tex en la corrección del estrabismo y en algunos casos con ptosis. Se colocaron 2 mm de Gore-tex por cada milímetro de retracción y de ptosis palpebral. Se corrigieron 2 dioptrías prismáticas por cada milímetro de retroinserción del músculo afectado. RESULTADOS: fueron satisfactorios en un total de 13 casos (87 %). La mayoría de los pacientes operados con la modificación realizada a la técnica de la suspensión al frontal disminuyeron los mm de caída hasta el nivel fisiológico palpebral. CONCLUSIONES: los resultados son satisfactorios en la mayoría de los casos operados con el uso del Gore-tex y con la técnica de suspensión al frontal modificada. .

OBJECTIVE: to evaluate the therapeutic results in the surgical correction of eye illnesses, with Gore-tex and with the modified conventional surgical technique of the frontalis suspension. METHODS: prospective and descriptive study in a series of 16 cases; 7 with ptosis, 5 with strabismus and 4 with inferior palpebral retraction. For the correction of the retraction and the ptosis, some Gore-tex fragments were used, and suture with this material for correction of strabismus and in some cases with ptosis. Two Gore-tex mm were placed per each mm of retraction and ptosis. Two prismatic dioptries were corrected per each mm of retroinsertion of the frontalis muscle. RESULTS: a total of 13 cases (87 %) had satisfactory results. Most of the patients operated on with the modified frontal suspension technique, reduced the amount of ptosis mm up to the palpebral physiological level. CONCLUSIONS: the results were satisfactory in most of the operated patients by using the Gore-tex and the modified frontalis suspension technique.

Surgical Treatment of Face Turn, and Up and Down Shoot in Duane Retraction Syndrome

PURPOSE: To present the results of patients undergoing surgical treatment and determine clinical guidelines for the face turn, and up and down shoot in Duane retraction syndrome (DRS). METHODS: Thirty-four patients with DRS were treated with single horizontal rectus muscle recession, lateral rectus (LR) recession with Y-splitting, or LR recession with Y-splitting combined with medial rectus (MR) recession. The different treatment approaches were based on the angle of deviation in the primary position, versions, and ductions. In all patients, ocular alignment, face turn and up and down shoot were assessed preoperatively and postoperatively. RESULTS: The average standard deviation reduced from 18.5 +/- 6.5 prism diopters (PD) to 4.6 +/- 5.8 PD in horizontal rectus muscle recession and 14.4 +/- 5.5 PD to 1.6 +/- 2.8 PD in LR recession with Y-splitting. LR recession with Y-splitting combined with MR recession was effective in reducing globe retraction. Postoperative 4-mm LR recession with Y-splitting did not change ocular alignment; 7-mm LR recession with Y-splitting showed an average correction of 12.8 PD. Postoperatively, all patients presented a reduction in face turn; however, there was no statistically significant difference between the 2 procedures (Mann-Whitney U test, p = 0.620). CONCLUSIONS: Decisions regarding surgical approaches in DRS should be based on the amount of deviation in primary eye position, the expression of up and down shoot, and the degree of face turn. Surgeons planning Y-splitting of LR with MR recession must consider modifying the MR recession amount due to the smaller LR recession effect of Y-splitting compared with conventional LR recession.

Vertical deviation and A pattern of type III Duane retraction syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Researches in ocular electromyography (EMG) and Magnetic resonance imaging (MRI) of patients with Duane retraction syndrome (DRS) suggest that there may be additional abnormalities such as paradoxical innervation between horizontal rectus muscles and vertical rectus muscles, hypoplasia of vertical rectus muscle and that oblique muscles may also contribute to the heterogeneity of the clinical manifestation of DRS. This paper reports the results of superior rectus recession for vertical deviation and A pattern in DRS Type III and discusses the pathogenesis of the disease.</p><p><b>METHODS</b>Superior and lateral rectus recession were performed in 5 cases of Huber type III DRS to treat vertical deviation and A pattern strabismus. Before operation, MRI of the brain, brainstem, cavernous sinus, and orbits were performed.</p><p><b>RESULTS</b>All subjects had unilateral limitation of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Three cases had A pattern of strabismus, three cases had hypertropia. The abducens nerves (CN6) were either absent or hypoplasitic in the brainstem in all patients. Two eyes had larger oculomotor foramen. Two eyes had hypoplasia of the superior rectus and the inferior rectus. There was presumably a branch of the third cranial nerve (CN3) innervating the lateral rectus (LR) in one eye. While in another eye, two branches of CN3 sent into medial rectus were revealed. After surgery, vertical deviation in the primary position was reduced in all patients and A pattern was eliminated in 3 patients. One patient developed 10Δ consecutive esotropia postoperatively.</p><p><b>CONCLUSION</b>The results suggest that structural abnormalities of vertical muscle and abnormal orbital innervation may be related to vertical deviation and the presence of A pattern in DRS type III. Recession of the superior rectus muscle seems to be a safe and effective treatment for vertical deviation and A pattern strabismus in DRS Type III.</p>

Wildervanck syndrome associated with cleft palate and short stature.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

Familial duane's syndrome

To describe a family suffering from Duane's Syndrome. Case series studies. Diagnosis and Research department of Ophthalmology, Allied Hospital, PMC, Faisalabad Oct 2009 [One month]. A Gentle man, 65 years old, shopkeeper, resident of Jaranwala, Faisalabad, presented with his four children two male and two female with complaint of asymmetry of their unilateral eyes, since birth. There was no history of maternal intake of drugs, or smoking during pregnancy. There was no history of trauma or surgery. On examination the unaided vision of all the study cases was 6/6, 6/6. The cornea, conjunctiva, lens, iris, pupil, vitreous and retina of all the subjects was normal. The IOP of the all was also with in normal range. The ocular motility and lid fissure narrowing was noted in different ocular gazes. The lymph nodes and thyroid gland examination was done. The Hiss screen test was done to quantify individual muscle action. The levator function test, cover tests, papillary reactions, slit lamp examination, fundus examination were performed. The lids fatigue ability tests and strength of hands grip was estimated at the last. All cranial nerves were examined. Urine, blood and thyroid tests were requested and documented. The all the cases had lid fissure narrowing in one of their horizontal gazes. The all of them had under action of one of their horizontal muscles. So all the children had been proved to be suffering from unilateral Familial Duane's Syndrome. In our clinical practice the Familial DS is rarely found. None of the study patients showed amblyopia, diplopia, upshots or down shoots phenomenon. Similarly no associated systemic anomalies were seen

Surgical Results in Duane Retraction Syndrome

PURPOSE: To report the clinical characteristics and the results of a series of patients treated with various strabismus surgery techniques for Duane retraction syndrome (DRS). METHODS: Thirty-eight patients with DRS undergoing surgical treatment were retrospectively reviewed. In all patients, ocular alignment, abnormal head posture and ocular motility disturbance were assessed both preoperatively and postoperatively. The patients were treated with appropriate horizontal muscle recession, Y-splitting combined with horizontal muscle recession, medial rectus recession and lateral rectus resection. RESULTS: The incidence of DRS was greater in females and in the left eye. Type 1 was the most common, and esodeviation was seen most frequently in the primary position. The esotropic patients with DRS turned their faces toward the affected eyes, while the exotropic patients with DRS turned away from the affected eyes. The deviation in the primary position was reduced from an average of 15.0 prism diopters (PD) to 1.5PD. The face turn was reduced from an average of 17.5 degrees to 1.2 degrees. CONCLUSIONS: The primary deviation and abnormal head posture found in DRS can be improved by proper preoperative evaluation and adequate choice of surgical methods.

A Case of Pseudo-Duane's Retraction Syndrome With Old Medial Orbital Wall Fracture

We report a case of pseudo-Duane's retraction syndrome with entrapment of the medial rectus muscle in an old medial orbital wall fracture presenting identical clinical symptoms as Duane's retraction syndrome. A 15-year-old boy presented with persistent limited right eye movement since a young age. Examination showed marked limited abduction, mildly limited adduction, and globe retraction accompanied by narrowing of the palpebral fissure during attempted adduction in the right eye. He showed a right esotropia of 16 prism diopters and his head turned slightly to the right. A slight enophthalmos was noted in his right eye. A computed tomography scan demonstrated entrapment of the medial rectus muscle and surrounding tissues in an old medial orbital wall fracture. A forced duction test revealed a marked restriction of abduction in the right eye. A 5 mm recession of the right medial rectus muscle was performed. Postoperatively, the patient's head turn and esotropia in the primary position were successfully corrected, but there was still some limitations to his ocular movement. The importance of several tests such as the forced duction test and an imaging study should be emphasized in making a diagnosis for limitation of eye movement.