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14 páginas, 4 figuras, 3 tablas, 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., Fundación Isabel Gemio; Generalitat Valenciana, Grant/Award Number:PROMETEO/2018/13; Fondo Europeo deDesarrollo Regional (FEDER); Instituto deSalud Carlos III, Grant/Award Numbers:PI19/01178, PI18/01374, PI16/00403

Resumen Objetivo La hipoacusia es la complicacion mas frecuente del traumatismo del hueso temporal. El papel del radiologo es de gran importancia; la adecuacion y la seleccion de las pruebas radiologicas, asi como su correcta interpretacion, son cruciales para establecer el diagnostico y el pronostico, y para seleccionar el tratamiento idoneo. Con el objetivo de sistematizar los conceptos mas relevantes en la valoracion de los estudios de imagen en este contexto, se esquematizara el desarrollo del tema segun el tipo de hipoacusia que condicione el traumatismo. De forma ordenada se valoraran las potenciales lesiones de sus componentes; en cada caso se sugerira la tecnica de imagen para su evaluacion y se describiran e ilustraran los hallazgos. Conclusion En la hipoacusia postraumatica, la tomografia computarizada es la tecnica de eleccion inicial y permitira la deteccion de alteraciones que condicionen hipoacusia conductiva; la resonancia magnetica es util en la valoracion de la hipoacusia neurosensorial.

Objective Hearing loss is the most frequent complication of temporal bone trauma. The role of the radiologist is of great importance; the adequacy and selection of the imaging technique, as well as its correct interpretation, are crucial to establish the diagnosis, prognosis and enable the selection of appropriate treatment. With the aim of systematizing the most relevant concepts in the evaluation of image studies in this scenario, this review will be outlined according to the hearing loss type. The potential lesions of its components will be assessed; In each case the most appropriate imaging technique will be suggested and the findings will be described and depicted. Conclusion In postraumatic hearing loss, computed tomography is the initial technique of choice and will allow the detection of alterations that cause conductive hearing loss; magnetic resonance imaging will be useful in the evaluation of sensorineural hearing loss.

Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

Introduction and objectives Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5–6 in every 1000 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 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.

Resumen Introduccion y objetivos La prevalencia de la hipoacusia neurosensorial (HNS) congenita es aproximadamente de 1,5-6 de cada 1.000 nacimientos. La disfuncion del nervio auditivo (neuropatia auditiva) puede estar presente hasta en el 1-10% de los casos de HNS en ninos, siendo menos frecuentes aquellas perdidas debidas a una aplasia o hipoplasia del nervio auditivo. Los objetivos del estudio son describir la clinica, umbrales auditivos y etiologia en una muestra de ninos con HNS y aplasia o hipoplasia del octavo par. Metodologia Presentamos 34 ninos (edad media 20 meses) con malformacion del nervio auditivo e HNS profunda de una muestra de 385 ninos implantados en los ultimos 10 anos. Estudiamos las caracteristicas demograficas, clinicas y malformaciones asociadas (clasificaciones de Casselman y Sennaroglu). Los datos fueron procesados usando un analisis estadistico descriptivo bivariante (p Resultados Un 58,8% fueron bilaterales ( II a/ II a y I / I fueron los mas frecuentes). De los unilaterales el II b fue el mas frecuente. La sensibilidad del cribado auditivo fue de un 77,4%. Encontramos diferencias estadisticamente significativas entre el grado de hipoacusia y los distintos tipos de aplasia (clasificacion de Casselman). La sensibilidad de la TC fue del 46,3% y la especificidad del 85,7%. La RNM fue la prueba de imagen mas sensible. Conclusiones Un 10% de los ninos en estudio para un implante coclear tienen una aplasia o hipoplasia del nervio auditivo. El grado de perdida auditiva esta directamente relacionado con los distintos tipos de aplasia (clasificacion de Casselman). Aunque la TC y la RNM son complementarias, la RNM es el test de eleccion para la deteccion de malformaciones del nervio auditivo.

The external ear is accessible to direct examination; the clinical history and otoscopy are sufficient to diagnose and treat most diseases of the external ear. We aim to describe the normal anatomy of the external ear, specify the indications for imaging tests, and review the clinical and radiological manifestations of the most common diseases affecting the external ear. We classify these diseases according to their origin into congenital, inflammatory, infectious, or traumatic disease or benign bone tumors or malignant tumors. Imaging does not play an important role in diseases of the external ear, but in certain clinical scenarios it can be crucial for reaching a concrete diagnosis and establishing the best treatment. Computed tomography is the first-choice technique for most diseases. Magnetic resonance imaging complements computed tomography and makes it possible to differentiate among different tissue types and to evaluate the extension of disease accurately.

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, Meniere'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.

Resumen Introduccion y objetivos El diagnostico del colesteatoma se basa en los hallazgos clinicos y en la tomografia computarizada. Actualmente, con las nuevas tecnicas de resonancia magnetica potenciada en difusion no ecoplanares, sin necesidad de contraste intravenoso, es posible diferenciar entre colesteatoma y tejido de granulacion o inflamatorio. Por ello, esta tecnica muestra su maxima utilidad en la valoracion de recidivas de colesteatoma tras timpanoplastias, sobre todo en tecnicas cerradas, ya que puede evitar un alto porcentaje de cirugias de revision. Otras indicaciones de la tecnica son los casos de diagnostico complejo y el colesteatoma congenito. 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 difusion PROPELLER, una de las tecnicas potenciada en difusion no ecoplanar en el diagnostico del colesteatoma. Metodos Estudio prospectivo de 52 pacientes con sospecha de colesteatoma en el que se correlacionan hallazgos clinicos y quirurgicos con los obtenidos del estudio de resonancia magnetica, que incluia una secuencia potenciada en difusion no ecoplanar (PROPELLER) de oidos. 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 magnetica con imagen potenciada en difusion no ecoplanar utilizando la secuencia PROPELLER, es una tecnica eficaz en el control del colesteatoma, permitiendo diagnosticar lesiones mayores de 2 mm.

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 2 mm.

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.

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.

Resumen Presentamos el caso de un paciente varon de 17 meses con sindrome de Duane tipo 1 bilateral asociado a displasia cocleovestibular unilateral, fistula perilinfatica y meningitis de repeticion. El diagnostico se realizo mediante TC de penascos y RM cerebral. Se describe su manejo y tratamiento, asi como la evolucion postoperatoria. Debido a la poca frecuencia de este sindrome, asi como a la de sus complicaciones de tipo otoneurologico, consideramos que se trata de un caso excepcional.