A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.

AIMS: We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe the underlying genetic changes. METHODS: We performed whole-exome sequencing on genomic DNA from the patients and their parents and reviewed the clinical, muscle and nerve data, the serial neurophysiological studies, brain and muscle MRIs, as well as the respiratory chain complex activity in the muscle of the three index patients. Computer modelling was used to characterise the new missense variant detected. RESULTS: All three patients had a short stature, delayed motor milestone acquisition, intellectual disability and cerebellar abnormalities associated with a severe demyelinating neuropathy, with distinct morphological features. Despite the proliferation of giant mitochondria, the mitochondrial respiratory chain complex activity in skeletal muscle was normal, except in one patient in whom there was a mild decrease in complex I enzyme activity. All three patients carried the same two compound heterozygous variants of the TRMT5 (tRNA Methyltransferase 5) gene, one known pathogenic frameshift mutation [c.312_315del (p.Ile105Serfs*4)] and a second rare missense change [c.665 T > C (p.Ile222Thr)]. TRMT5 is a nuclear-encoded protein involved in the post-transcriptional maturation of mitochondrial tRNA. Computer modelling of the human TRMT5 protein structure suggests that the rare p.Ile222Thr mutation could affect the stability of tRNA binding. CONCLUSIONS: Our study expands the phenotype of mitochondrial disorders caused by TRTM5 mutations and defines a new form of recessive demyelinating peripheral neuropathy.

A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.

BACKGROUND: Laing myopathy is characterized by broad clinical and pathological variability. They are limited in number and protocol of study. We aimed to delineate muscle imaging profiles and validate imaging analysis as an outcome measure. METHODS: This was a cross-sectional and longitudinal cohort study. Data from clinical, functional and semi-quantitative muscle imaging (60 magnetic resonance imaging [MRI] and six computed tomography scans) were studied. Hierarchical analysis, graphic heatmap representation and correlation between imaging and clinical data using Bayesian statistics were carried out. RESULTS: The study cohort comprised 42 patients from 13 families harbouring five MYH7 mutations. The cohort had a wide range of ages, age at onset, disease duration, and myopathy extension and Gardner-Medwin and Walton (GMW) functional scores. Intramuscular fat was evident in all but two asymptomatic/pauci-symptomatic patients. Anterior leg compartment muscles were the only affected muscles in 12% of the patients. Widespread extension to the thigh, hip, paravertebral and calf muscles and, less frequently, the scapulohumeral muscles was commonly observed, depicting distinct patterns and rates of progression. Foot muscles were involved in 40% of patients, evolving in parallel to other regions with absence of a disto-proximal gradient. Whole cumulative imaging score, ranging from 0 to 2.9 out of 4, was associated with disease duration and with myopathy extension and GMW scales. Follow-up MRI studies in 24 patients showed significant score progression at a variable rate. CONCLUSIONS: We confirmed that the anterior leg compartment is systematically affected in Laing myopathy and may represent the only manifestation of this disorder. However, widespread muscle involvement in preferential but variable and not distance-dependent patterns was frequently observed. Imaging score analysis is useful to categorize patients and to follow disease progression over time.

Contemporary non-echo-planar diffusion-weighted imaging of middle ear cholesteatomas.

Middle ear cholesteatoma is a common inflammatory disease that requires surgery due to potentially serious intracranial complications. Diagnosis of cholesteatoma is mainly clinical, with computed tomography (CT) used to evaluate disease extension before surgery. Certain patterns of bone erosion are specific, but CT attenuation does not allow differentiation from other inflammatory middle ear diseases. With its high tissue discrimination and contrast resolution, magnetic resonance imaging is valuable in diagnosis of cholesteatomas. Absent enhancement at delayed postcontrast imaging has been used for diagnosis. Diffusion-weighted imaging (DWI) is highly specific due to the high keratin content of cholesteatomas. New non-echo-planar DWI sequences, such as periodically rotated overlapping parallel lines with enhanced reconstruction, are superior to conventional echo-planar DWI, since they minimize susceptibility artifacts at the skull base and increase sensitivity for detection of lesions as small as 2 mm. This technique is indicated when clinical diagnosis is difficult and high tissue specificity is necessary, as in congenital, temporal bone, or atypical acquired middle ear cholesteatomas and residual or recurrent disease after surgery. Non-echo-planar DWI has been proposed for screening of postsurgical (residual or recurrent) cholesteatomas, thus obviating many second-look revision surgeries, especially after more conservative canal wall up surgery.

[Transpterygoid expanded endonasal approach in fibrous dysplasia of the skull base: case report and technical note]. / Abordaje endonasal expandido transpterigoideo en la displasia fibrosa de base de cráneo: caso clínico y nota técnica.

INTRODUCTION: Expanded endonasal approaches (EEA) are becoming a first-level technique for the treatment of skull base pathologies. In some cases, the endoscopic procedures make it possible to dissect structures manipulated with greater difficulty in the classic approaches. We report a full endoscopic transpterygoid EEA for the treatment of a fibrous dysplasia (FD) of the skull base. In addition, we reviewed the English literature available on FD and transpterygoid EEA, establishing an exact surgical technique and showing our intraoperative experience. CASE REPORT: A 42-year-old male with right sixth cranial nerve palsy. Cranial MRI and CT showed a central skull base lesion with diagnostic suspicion of FD. Patient underwent a full endoscopic transpterygoid EEA, achieving a wide skull base neurovascular decompression. Neuronavigation and the vidian canal landmark resulted mandatory during intraoperative procedure. DISCUSSION: The transpterygoid EEA is a safe technique consistently supported in the literature. It may reduce the morbidity associated to the classic transcranial approaches, since it permits maximum resection with minimum craniofacial distortion. The vidian hole and canal are the landmarks used to locate and avoid injury to the lacerum segment of the carotid injury. The surgical treatment indication in FD cases must be established in symptomatic patients. CONCLUSION: Transpterygoid EEA for treatment of FD of the skull base is a safe and effective procedure, thanks to the guide that the vidian canal provides in finding the lacerum segment of the carotid artery.

MRI findings in spinal subdural and epidural hematomas.

BACKGROUND: Spinal hematomas are rare entities that can be the cause of an acute spinal cord compression syndrome. Therefore, an early diagnosis is of great importance. PATIENTS AND METHODS: From 2001 to 2005 seven patients with intense back pain and/or acute progressive neurological deficit were studied via 1.5 T MRI (in axial and sagittal T1- and T2-weighted sequences). Follow-up MRI was obtained in six patients. RESULTS: Four patients showed the MRI features of a hyperacute spinal hematoma (two spinal subdural hematoma [SSH] and two spinal epidural hematoma [SEH]), isointense to the spinal cord on T1- and hyperintense on T2-weighted sequences. One patient had an early subacute SEH manifest as heterogeneous signal intensity with areas of high signal intensity on T1- and T2-weighted images. Another patient had a late subacute SSH with high signal intensity on T1- and T2-weighted sequences. The final patient had a SEH in the late chronic phase being hypointense on T1- and T2-weighted sequences. DISCUSSION: MRI is valuable in diagnosing the presence, location and extent of spinal hematomas. Hyperacute spinal hematoma and the differentiation between SSH and SEH are particular diagnostic challenges. In addition, MRI is an important tool in the follow-up in patients with conservative treatment.

Malformation of the eighth cranial nerve in children. / Malformaciones del octavo par en niños.

INTRODUCTION AND OBJECTIVES: Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia. METHODOLOGY: We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05). RESULTS: Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test. CONCLUSIONS: Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation.

Imaging diagnostics: congenital malformations and acquired lesions of the inner ear.

INTRODUCTION: Congenital malformations and acquired lesions of the inner ear are characterised by small structural changes in this region. In recent decades, treatment options have improved considerably. At the same time, there has been a great advancement in diagnostic methods, obtaining high-resolution labyrinth images. Currently, we use a 64-multislice computed tomography scanner in spiral mode (Brilliance 64 Phillips, Eindhoven, the Netherlands), with an overlap of 0.66 mm and an interval of 0.33 mm, 120 KV and 300 mA. The magnetic resonance images were taken with Signa HDxt 1.5 and 3.0 T units (GE Healthcare, Waukesha, WI, USA). We reviewed the radiological features of the lesions affecting the inner ear. They are classified as congenital (labyrinth malformation and statoacoustic nerve deficiencies) or acquired (otospongiosis, labyrinthitis, Ménière's disease, inner ear haemorrhage, intralabyrinthine schwannoma and endolymphatic sac tumour). CONCLUSION: Magnetic resonance imaging and computed tomography play an essential role in diagnosing patients with inner ear pathology. The technique selected should be chosen depending on the clinical setting. In a generic way, tomography is the method of choice for the study of traumatic pathology or otospongiosis. When tumour or inflammatory pathology is suspected, magnetic resonance is superior. In cases of congenital malformation, both techniques are complementary.

The role of diffusion-weighted magnetic resonance imaging in cholesteatoma diagnosis and follow-up. Study with the diffusion PROPELLER technique.

INTRODUCTION AND OBJECTIVES: The diagnosis of cholesteatoma is based on clinical evaluation and computed tomography. New non-echo-planar diffusion-weighted magnetic resonance imaging (MRI) techniques, without intravenous contrast, are capable of differentiating cholesteatoma from inflammatory tissue, cholesterol granuloma and granulation tissues. The technique is very helpful in differential diagnosis of cholesteatoma, mainly after canal wall-up tympanoplasty surgery, to avoid routine second-look surgery in these patients. Congenital cholesteatoma and difficult cases can be detected and correctly diagnosed as well. The aim of this study was to evaluate sensitivity, specificity, positive predictive value and negative predictive value of the diffusion-weighted PROPELLER MRI in cholesteatoma diagnosis. METHODS: A prospective study was performed on 52 patients. Clinical and surgical findings were correlated with diffusion-weighted PROPELLER MRI results. RESULTS: Sensitivity, specificity and positive and negative predictive values were 92.85%, 92.30, 92.85 and 92.30%, respectively. CONCLUSIONS: Diffusion-weighted PROPELLER imaging is an effective technique in cholesteatoma diagnosis. It is capable of detecting lesions larger than 2mm.

Recurrent meningitis associated with Duane syndrome type I.

We present the case of a 17-month-old male patient with a bilateral Duane syndrome type 1 associated to unilateral cochleovestibular dysplasia, perilymphatic fistula and recurrent meningitis. Diagnosis was carried out by MRI and CT scan. His management and treatment are described, as well as the postoperative evolution. We believe this is an exceptional case due to the low frequency of this syndrome, as well as to the otoneurological complications.

Implante coclear en paciente con schwannoma intracoclear / Cochlear implant in patient with intracochlear schwannoma

No disponible

Malformaciones del octavo par en niños / Malformation of the eighth cranial nerve in children

Introducción y objetivos: La prevalencia de la hipoacusia neurosensorial (HNS) congénita es aproximadamente de 1,5-6 de cada 1.000 nacimientos. La disfunción del nervio auditivo (neuropatía auditiva) puede estar presente hasta en el 1-10% de los casos de HNS en niños, siendo menos frecuentes aquellas pérdidas debidas a una aplasia o hipoplasia del nervio auditivo. Los objetivos del estudio son describir la clínica, umbrales auditivos y etiología en una muestra de niños con HNS y aplasia o hipoplasia del octavo par. Metodología: Presentamos 34 niños (edad media 20 meses) con malformación del nervio auditivo e HNS profunda de una muestra de 385 niños implantados en los últimos 10 años. Estudiamos las características demográficas, clínicas y malformaciones asociadas (clasificaciones de Casselman y Sennaroglu). Los datos fueron procesados usando un análisis estadístico descriptivo bivariante (p<0,05). Resultados: Un 58,8% fueron bilaterales (IIa/IIa y I/I fueron los más frecuentes). De los unilaterales el IIb fue el más frecuente. La sensibilidad del cribado auditivo fue de un 77,4%. Encontramos diferencias estadísticamente significativas entre el grado de hipoacusia y los distintos tipos de aplasia (clasificación de Casselman). La sensibilidad de la TC fue del 46,3% y la especificidad del 85,7%. La RNM fue la prueba de imagen más sensible. Conclusiones: Un 10% de los niños en estudio para un implante coclear tienen una aplasia o hipoplasia del nervio auditivo. El grado de pérdida auditiva está directamente relacionado con los distintos tipos de aplasia (clasificación de Casselman). Aunque la TC y la RNM son complementarias, la RNM es el test de elección para la detección de malformaciones del nervio auditivo (AU)

Introduction and objectives: Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia. Methodology: We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05). Results: Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test. Conclusions: Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation (AU)

Diagnóstico por imagen: malformaciones congénitas y lesiones adquiridas del oído interno / Imaging diagnostics: congenital malformations and acquired lesions of the inner ear

Introducción: Las malformaciones congénitas y las lesiones adquiridas del oído interno se caracterizan por pequeños cambios estructurales de esta región. En las últimas décadas, las opciones terapéuticas han mejorado considerablemente, y paralelamente se ha producido un gran avance en los métodos diagnósticos, consiguiendo imágenes de alta resolución del laberinto. Actualmente se utiliza una tomografía computerizada multicorte de 64 detectores (Brilliance 64 Phillips, Eindhoven, the Netherlands), un espesor de adquisición de 0,66 y un intervalo de 0,33 mm, 120 KV y 300 mA. Las imágenes de resonancia magnética proceden de los equipos Signa HDxt 1.5 y 3.0 T (GE Healthcare, Waukesha, WI, USA). Se realiza una revisión de las características radiológicas de las lesiones que afectan al oído interno que son clasificadas según su origen en congénitas (malformaciones del laberinto y deficiencias de los nervios estatoacústicos) o adquiridas (otoespongiosis, laberintitis, hemorragia del oído interno, enfermedad de Menière, schwannoma intralaberíntico, tumor del saco endolinfático). Conclusiones: La resonancia magnética y la tomografía computerizada juegan un papel fundamental en el diagnóstico de pacientes con patología del oído interno. La técnica de elección debe ser escogida en función del escenario clínico. De forma genérica, para el estudio de patología traumática u otoespongiosis la tomografia es el método de elección. Ante sospecha de patología tumoral o inflamatoria la resonancia se muestra superior. Para el estudio de patología malformativa ambas técnicas son complementarias (AU)

Introduction: Congenital malformations and acquired lesions of the inner ear are characterised by small structural changes in this region. In recent decades, treatment options have improved considerably. At the same time, there has been a great advancement in diagnostic methods, obtaining high-resolution labyrinth images. Currently, we use a 64-multislice computed tomography scanner in spiral mode (Brilliance 64 Phillips, Eindhoven, the Netherlands), with an overlap of 0.66 mm and an interval of 0.33 mm, 120 KV and 300 mA. The magnetic resonance images were taken with Signa HDxt 1.5 and 3.0 T units (GE Healthcare, Waukesha, WI, USA). We reviewed the radiological features of the lesions affecting the inner ear. They are classified as congenital (labyrinth malformation and statoacoustic nerve deficiencies) or acquired (otospongiosis, labyrinthitis, Ménière's disease, inner ear haemorrhage, intralabyrinthine schwannoma and endolymphatic sac tumour). Conclusion: Magnetic resonance imaging and computed tomography play an essential role in diagnosing patients with inner ear pathology. The technique selected should be chosen depending on the clinical setting. In a generic way, tomography is the method of choice for the study of traumatic pathology or otospongiosis. When tumour or inflammatory pathology is suspected, magnetic resonance is superior. In cases of congenital malformation, both techniques are complementary (AU)

Papel de la resonancia magnética de difusión en el diagnóstico y seguimiento del colesteatoma. Estudio con la técnica PROPELLER difusión / The role of diffusion-weighted magnetic resonance imaging in cholesteatoma diagnosis and follow-up. Study with the diffusion PROPELLER technique

Introducción y objetivos: El diagnóstico del colesteatoma se basa en los hallazgos clínicos y en la tomografía computarizada. Actualmente, con las nuevas técnicas de resonancia magnética potenciada en difusión no ecoplanares, sin necesidad de contraste intravenoso, es posible diferenciar entre colesteatoma y tejido de granulación o inflamatorio. Por ello, esta técnica muestra su máxima utilidad en la valoración de recidivas de colesteatoma tras timpanoplastias, sobre todo en técnicas cerradas, ya que puede evitar un alto porcentaje de cirugías de revisión. Otras indicaciones de la técnica son los casos de diagnóstico complejo y el colesteatoma congénito. El objetivo de este estudio es valorar la validez (sensibilidad y especificidad) y la seguridad (valor predictivo positivo y valor predictivo negativo) de la secuencia de difusión PROPELLER, una de las técnicas potenciada en difusión no ecoplanar en el diagnóstico del colesteatoma. Métodos: Estudio prospectivo de 52 pacientes con sospecha de colesteatoma en el que se correlacionan hallazgos clínicos y quirúrgicos con los obtenidos del estudio de resonancia magnética, que incluía una secuencia potenciada en difusión no ecoplanar (PROPELLER) de oídos. Resultados: La sensibilidad de la prueba para el grupo fue del 92,85%, la especificidad del 92,30%, el valor predictivo positivo del 92,85% y el valor predictivo negativo del 92,30%. Conclusiones: La resonancia magnética con imagen potenciada en difusión no ecoplanar utilizando la secuencia PROPELLER, es una técnica eficaz en el control del colesteatoma, permitiendo diagnosticar lesiones mayores de 2mm(AU)

Introduction and objectives: The diagnosis of cholesteatoma is based on clinical evaluation and computed tomography. New non-echo-planar diffusion-weighted magnetic resonance imaging (MRI) techniques, without intravenous contrast, are capable of differentiating cholesteatoma from inflammatory tissue, cholesterol granuloma and granulation tissues. The technique is very helpful in differential diagnosis of cholesteatoma, mainly after canal wall-up tympanoplasty surgery, to avoid routine second-look surgery in these patients. Congenital cholesteatoma and difficult cases can be detected and correctly diagnosed as well. The aim of this study was to evaluate sensitivity, specificity, positive predictive value and negative predictive value of the diffusion-weighted PROPELLER MRI in cholesteatoma diagnosis. Methods: A prospective study was performed on 52 patients. Clinical and surgical findings were correlated with diffusion-weighted PROPELLER MRI results. Results: Sensitivity, specificity and positive and negative predictive values were 92.85%, 92.30, 92.85 and 92.30%, respectively. Conclusions: Diffusion-weighted PROPELLER imaging is an effective technique in cholesteatoma diagnosis. It is capable of detecting lesions larger than 2mm(AU)

Abordaje endonasal expandido transpterigoideo en la displasia fibrosa de base de cráneo: caso clínico y nota técnica / Transpterygoid expanded endonasal approach in fibrous dysplasia of the skull base: case report and technical note

Introducción y objetivo: En los últimos años, los abordajes endonasales expandidos (AEE) se están convirtiendo en una técnica de primer nivel para el tratamiento de diferentes patologías de la base del cráneo. En algunos casos, la endoscopia permite la disección de áreas difícilmente accesibles con los abordajes tradicionales. A propósito de un caso de displasia fibrosa (DF) basicraneal, nuestros objetivos son mostrar como los AEE pueden ser una técnica quirúrgica segura y eficaz para la descompresión de estructuras neurovasculares de la base de cráneo y realizar una revisión bibliográfica de la literatura inglesa disponible respecto a la DF, así como de los AEE transpterigoideos, estableciendo una descripción exacta de la técnica y plasmando nuestra experiencia operatoria en este campo. Caso clínico: Varón de 42 años de edad con paresia del VI par craneal derecho y estudios de imagen mediante resonancia magnética y tomografía computarizada craneales sugestivos de displasia fibrosa esfenoclival. Se lleva a cabo un abordaje endonasal expandido transpterigoideo completamente endoscópico, obteniéndose una amplia descompresión de las estructuras vasculonerviosas de la base del cráneo. Durante el procedimiento se utiliza neuronavegación y el canal vidiano como referencia anatómica fundamental de la carótida en su segmento lacerum. Discusión: El AEE transterigoideo es una técnica segura y con amplio sustento en la literatura científica. En manos adecuadas, podría reducir la morbilidad asociada a los abordajes transcraneales clásicos, ya que permite un máximo potencial resectivo sobre las lesiones a tratar, con una mínima (..) (AU)

Introduction: Expanded endonasal approaches (EEA) are becoming a first-level technique for the treatment of skull base pathologies. In some cases, the endoscopic procedures make it possible to dissect structures manipulated with greater difficulty in the classic approaches. We report a full endoscopic transpterygoid EEA for the treatment of a fibrous dysplasia (FD) of the skull base. In addition, we reviewed the English literature available on FD and transpterygoid EEA, establishing an exact surgical technique and showing our intraoperative experience. Case report: A 42-year-old male with right sixth cranial nerve palsy. Cranial MRI and CT showed a central skull base lesion with diagnostic suspicion of FD. Patient underwent a full endoscopic transpterygoid EEA, achieving a wide skull base neurovascular decompression. Neuronavigation and the vidian canal landmark resulted mandatory during intraoperative procedure. Discussion: The transpterygoid EEA is a safe technique consistently supported in the literature. It may reduce the morbidity associated to the classic transcranial approaches, since it permits maximum resection with minimum craniofacial distortion. The vidian hole and canal are the landmarks used to locate and avoid injury to the lacerum segment of the carotid injury. The surgical treatment indication in FD cases must be established in symptomatic patients. Conclusion: Transpterygoid EEA for treatment of FD of the skull base is a safe and effective procedure, thanks to the guide that the vidian canal provides in finding the lacerum segment of the carotid artery (AU)

Meningitis de repetición asociada a síndrome de Duane tipo 1 / Recurrent meningitis associated with Duane syndrome type I

Presentamos el caso de un paciente varón de 17 meses con síndrome de Duane tipo 1 bilateral asociado a displasia cocleovestibular unilateral, fístula perilinfática y meningitis de repetición. El diagnóstico se realizó mediante TC de peñascos y RM cerebral. Se describe su manejo y tratamiento, así como la evolución postoperatoria. Debido a la poca frecuencia de este síndrome, así como a la de sus complicaciones de tipo otoneurológico, consideramos que se trata de un caso excepcional(AU)

We present the case of a 17-month-old male patient with a bilateral Duane syndrome type 1 associated to unilateral cochleovestibular dysplasia, perilymphatic fistula and recurrent meningitis. Diagnosis was carried out by MRI and CT scan. His management and treatment are described, as well as the postoperative evolution. We believe this is an exceptional case due to the low frequency of this syndrome, as well as to the otoneurological complications(AU)