Guía de práctica clínica sobre el manejo del schwannoma vestibular / Clinical practice guideline on the management of vestibular schwannoma

Introducción: El schwannoma vestibular (SV) es el tumor más frecuente del ángulo pontocerebeloso. La mayor accesibilidad a las pruebas radiológicas ha incrementado su diagnóstico. Teniendo en cuenta las características del tumor, la clínica y la edad del paciente se han propuesto tres estrategias terapéuticas, observación, cirugía o radioterapia. La elección de la más adecuada para cada paciente es un motivo de controversia frecuente. Material y métodos: El presente trabajo incluye una revisión exhaustiva sobre cuestiones relativas al SV que pueden servir de guía clínica en el manejo de pacientes con estas lesiones. La presentación se ha orientado en forma de preguntas que el clínico se hace habitualmente y las respuestas están redactadas y/o revisadas por un panel de expertos nacionales e internacionales consultados por la Comisión de Otología de la SEORL-CCC. Resultados: Se ha elaborado un listado con los 13 bloques temáticos más controvertidos sobre el manejo del SV en forma de 50 preguntas y se han buscado las respuestas a todas ellas mediante una revisión sistemática de la literatura (artículos publicados en PubMed y Cochrane Library entre 1992 y 2023 sobre cada bloque temático). Treinta y tres expertos, liderados por la Comisión de Otología de la SEORL-CCC, han analizado y discutido todas las respuestas. En el Anexo 1 pueden encontrarse 14 preguntas adicionales divididas en cuatro bloques temáticos. Conclusiones: Esta guía de práctica clínica sobre el manejo del SV ofrece respuestas consensuadas a las preguntas más habituales que se plantean sobre este tumor. La ausencia de suficientes estudios prospectivos hace que los niveles de evidencia sobre el tema sean en general medios o bajos. Este hecho incrementa el interés de este tipo de guías de práctica clínica elaboradas por expertos.(AU)

IntroductionVestibular schwannoma (VS) is the most common tumour of the cerebellopontine angle. The greater accessibility to radiological tests has increased its diagnosis. Taking into account the characteristics of the tumour, the symptoms and the age of the patient, three therapeutic strategies have been proposed: observation, surgery or radiotherapy. Choosing the most appropriate for each patient is a frequent source of controversy. Material and methods: This paper includes an exhaustive literature review of issues related to VS that can serve as a clinical guide in the management of patients with these lesions. The presentation has been oriented in the form of questions that the clinician usually asks himself and the answers have been written and/or reviewed by a panel of national and international experts consulted by the Otology Commission of the SEORL-CCC. Results: A list has been compiled containing the 13 most controversial thematic blocks on the management of VS in the form of 50 questions, and answers to all of them have been sought through a systematic literature review (articles published on PubMed and Cochrane Library between 1992 and 2023 related to each thematic area). Thirty-three experts, led by the Otology Committee of SEORL-CCC, have analyzed and discussed all the answers. In Annex 1, 14 additional questions divided into 4 thematic areas can be found. Conclusions: This clinical practice guideline on the management of VS offers agreed answers to the most common questions that are asked about this tumour. The absence of sufficient prospective studies means that the levels of evidence on the subject are generally medium or low. This fact increases the interest of this type of clinical practice guidelines prepared by experts.(AU)

Clinical practice guideline on the management of vestibular schwannoma.

INTRODUCTION: Vestibular schwannoma (VS) is the most common tumour of the cerebellopontine angle. The greater accessibility to radiological tests has increased its diagnosis. Taking into account the characteristics of the tumour, the symptoms and the age of the patient, three therapeutic strategies have been proposed: observation, surgery or radiotherapy. Choosing the most appropriate for each patient is a frequent source of controversy. MATERIAL AND METHODS: This paper includes an exhaustive literature review of issues related to VS that can serve as a clinical guide in the management of patients with these lesions. The presentation has been oriented in the form of questions that the clinician usually asks himself and the answers have been written and/or reviewed by a panel of national and international experts consulted by the Otology Commission of the SEORL-CCC. RESULTS: A list has been compiled containing the 13 most controversial thematic blocks on the management of VS in the form of 50 questions, and answers to all of them have been sought through a systematic literature review (articles published on PubMed and Cochrane Library between 1992 and 2023 related to each thematic area). Thirty-three experts, led by the Otology Committee of SEORL-CCC, have analyzed and discussed all the answers. In Annex 1, 14 additional questions divided into 4 thematic areas can be found. CONCLUSIONS: This clinical practice guideline on the management of VS offers agreed answers to the most common questions that are asked about this tumour. The absence of sufficient prospective studies means that the levels of evidence on the subject are generally medium or low. This fact increases the interest of this type of clinical practice guidelines prepared by experts.

Neurological manifestations of neurofibromatosis type 1: our experience.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. METHODS: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.

Manifestaciones neurológicas en neurofibromatosis tipo 1. Nuestra experiencia / Neurological manifestations of neurofibromatosis type 1: our experience

Introducción: La neurofibromatosis tipo 1 (NF1) es un desorden progresivo multisistémico de herencia autosómica dominante que presenta numerosas manifestaciones neurológicas. Métodos: Revisión de historias clínicas de pacientes afectos de NF1 controlados en una Unidad de Neuropediatría de mayo de 1990 a 31 de diciembre de 2018 y sus manifestaciones neurológicas asociadas. Resultados: Se revisaron 128 pacientes afectos de NF1. Edad media al diagnóstico de NF1, 4,43 años ± 3,38 SDS (rango 6 meses-14,5 años) con discreto predominio femenino (53,1%). Se asocia macrocefalia (PC> 2SDS) en el 37,5% de los casos. TDAH en el 28,9% de los casos (37), subtipo combinado 20, inatento 15 casos y predominantemente hiperactivo 2 casos. Otras manifestaciones incluyen; cefalea (18,7%), déficit cognitivo (7,8%), afectación motora (6,2%) y epilepsia (4,68%). Se realizó RM cerebral a 85 pacientes, mostrando 60 (70,5%) hiperseñales en T2 en ganglios basales y/o cerebelo, junto con otras alteraciones como Chiari I (4 casos) y quistes aracnoideos (3 casos). Se identificaron gliomas de nervio óptico en 22 casos (25,8%). Otros hallazgos diagnosticados por RM incluyen neurofibromas plexiformes (9,3%) y otros gliomas localizados en sistema nervioso central (3,1%). Conclusiones: Las manifestaciones neurológicas encontradas concuerdan con lo recogido en la literatura. El seguimiento de estos pacientes se pierde en la edad adulta, siendo necesario establecer adecuadas estrategias de transferencia y posterior seguimiento de pacientes a los servicios de adultos. (AU)

Introduction: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. Methods: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. Results: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). Conclusions: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood. (AU)

Schwannoma retrorrectal / Retrorectal Schwannoma

RESUMEN Los tumores de la región retrorrectal son lesiones poco frecuentes, con potencial de malignidad e infección. Generalmente cursan asintomáticos. Presentamos el caso de una paciente de 62 años, con dolor pélvico crónico, cuyos estudios imagenológicos informan lesión ocupante de espacio de 3 cm en región presacra. Se procedió a su resección quirúrgica con diagnostico histopatológico de schwannoma.

ABSTRACT Retrorectal tumors are rare but have potential malignant transformation and risk of infection. Thet are usually asymptomatic. We report the case of a 62-year-old female patient with chronic pelvic pain and imaging tests showing a 3-cm space-occupying lesion in the presacral region. The lesion resected and the histopathologic diagnosis was schwannoma.

Congenital unilateral absence of the lacrimal gland combined with lipoma. A rare case of unilateral congenital alacrima. / Agenesia unilateral congénita de glándula lagrimal con sustitución por lipoma. Un caso raro de alacrimia congénita unilateral.

The purpose of this report is to describe a case of a unilateral congenital absence of the lacrimal gland in a 7-year-old girl with ocular symptoms, no tear production and a conjunctival tumour at the supero-external angle of the right eye. The visual acuity was 20/20 in both the eyes. The right eye showed mucous secretion, corneal erosions and filaments. Anamnesis, physical examination and clinical tests ruled out systemic diseases associated with congenital alacrima, as well as rheumatic, immunological and infectious diseases. Nuclear magnetic resonance, with various fat suppression techniques, demonstrated the absence of the right lacrimal gland and the presence of a tumour compatible with lipoma. This case, to our knowledge, is the first report of unilateral absence of the lacrimal gland combined with lipoma.

Amiloidosis AL y mieloma múltiple: macroglosia como primera manifestación de una combinación infrecuente / AL amyloidosis and multiple myeloma: macroglossia as first manifestation of a rare combination

El diagnóstico diferencial de la macroglosia es amplio y puede estar en el contexto de una patología localizada o una enfermedad sistémica. Dentro de las enfermedades sistémicas que se manifiestan con macroglosia se describe la amiloidosis, caracterizada por un depósito irreversible de una proteína amorfa y fibrilar El compromiso de esta patología en el territorio de cabeza y cuello es infrecuente y su depósito en la lengua corresponde a menos del 9% de los casos. Se presenta el caso de un paciente que consultó por dolor en hemilengua derecha, disfagia y baja de peso. Se estudió inicialmente con exámenes de laboratorio y nasofibroscopía, sin hallazgos concluyentes. Dado persistencia de síntomas se realizó resonancia nuclear magnética (RM) que mostraba signos sugerentes de enfermedad de depósito, confirmándose mediante estudios histopatológicos una amiloidosis sistémica secundaria. El paciente fue derivado a hematología para completar estudio e iniciar el tratamiento. La amiloidosis sistémica es un diagnóstico infrecuente, que debe ser considerado por su mal pronóstico vital. El diagnóstico en etapas iniciales puede mejorar sustancialmente la sobrevida y calidad de vida de aquellos que padecen la enfermedad. Por lo anterior, es necesario completar un estudio acabado de la patología, apoyándose en métodos no invasivos como la RM.

The differential diagnosis of macroglossia is broad, and it may be present in the context of a localized pathology or a systemic disease. One of the systemic diseases that present macroglossia is amyloidosis, which is characterized by an irreversible deposit of an amorphous and fibrillar protein. The manifestation of this pathology in head and neck territory is infrequent, and its deposit in the tongue represents less than 9% of all types of amyloidosis. We present the case of a patient, who consulted with pain in the tongue, dysphagia, and weight loss. He was initially studied with laboratory tests and a nasofibroscopy with no conclusive findings. Given the persistence of symptoms, magnetic resonance imaging (MRI) was performed, showing signs of an infiltrative disease, which was confirmed as secondary systemic amyloidosis through histopathological studies. Given the above, the patient was referred to hematology to start treatment. Systemic amyloidosis is an uncommon diagnosis that should be suspected since it implies a poor vital prognosis. Moreover, an early diagnosis can substantially improve the survival rate and quality of life of those who suffer this disease. Therefore, a comprehensive study of this condition is needed, complementing with non-invasive methods such as MRI.

Estudio imagenológico de linfonodos en oncología de cabeza y cuello / Imaging study of lymph nodes in head and neck oncology

RESUMEN En la práctica clínica es habitual el estudio de linfonodos cervicales. La anamnesis y el examen físico orientan la etiología, pero ocasionalmente debemos recurrir a estudios imagenológicos. Esto es muy relevante en contexto de un linfonodo metastásico por un carcinoma escamoso de cabeza y cuello. Para esto podemos utilizar diversas herramientas imagenológicas. El ultrasonido se utiliza para el estudio inicial de una masa cervical en donde clínicamente no queda claro el origen. La tomografía computarizada permite la evaluación de manera global del cuello. Se utiliza ante sospechas o diagnósticos confirmados de carcinoma escamoso de cabeza y cuello. La resonancia magnética tiene utilidad en casos que requieren evaluación de un primario y el cuello, como cánceres de glándulas salivales, base de lengua, lengua oral o piso de boca. El PET-TC es un buen examen a la hora de evaluar un cáncer de cabeza y cuello de primario desconocido y posibles metástasis a distancia, como también cuando se quiere evaluar adenopatías persistentes postratamiento con radioquimioterapia. Tener una evaluación ordenada en el estudio de un linfonodo, por sobre todo con un uso adecuado del recurso imagenológico ayuda a no enlentecer el proceso diagnóstico y dar un diagnóstico y tratamiento más certero.

ABSTRACT In clinical practice, the study of cervical lymph nodes is common. The anamnesis and the physical examination often guide the etiology, however sometimes we have to use images studies. This is very relevant when we are assessing a metastatic lymph node due to head and neck squamous cell carcinoma. Ultrasound is usually used for the initial study of a cervical mass where the physician cannot determine its origin. The computed tomography allows a global evaluation of the neck. It is most often used when there is suspicion or confirmed diagnoses of head and neck squamous cell carcinoma. Magnetic resonance imaging is useful in cases that require evaluation of a primary neoplasm and the neck, such in salivary gland cancers, tongue base cancers, oral tongue or mouth floor tumors. PET-CT is a good test to evaluate head and neck cancers of unknown primary site and possible distant metastases, as well as evaluation of persistent adenopathies after treatment with radiochemotherapy. Having an organized evaluation in the study of a lymph node, with an adequate use of the imaging resource, helps not to hinder the diagnostic process and give an accurate diagnosis and treatment.

Neurological manifestations of neurofibromatosis type 1: our experience. / Manifestaciones neurológicas en neurofibromatosis tipo 1. Nuestra experiencia.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. METHODS: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.

Variability in the use of neuroimaging techniques for diagnosis and follow-up of stroke patients. / Grandes variaciones en la utilización de pruebas por imagen en el diagnóstico y seguimiento de los pacientes con ictus.

INTRODUCTION AND OBJECTIVE: Imaging diagnosis is essential for treatment planning in stroke patients. However, use of these techniques varies due to uncertainty about their effectiveness. Our purpose was to describe the use of CT and MRI in stroke and transient ischaemic attack (TIA) over 5years in hospitals belonging to the Canary Islands Health Service and analyse interhospital variability based on routinely collected administrative data. PATIENTS AND METHOD: We gathered the minimum basic dataset (MBDS) from patients diagnosed with stroke or TIA between 2005 and 2010 in 4hospitals. Patients' age, sex, procedures, secondary diagnoses, and duration of hospital stay were also recorded. We conducted a descriptive analysis of patient characteristics and a bivariate analysis using the t test and the chi square test to detect differences between patients assessed and not assessed with MRI. Logistic regression was used to analyse unequal access to MRI. RESULTS AND CONCLUSIONS: Our study included 10,487 patients (8,571 with stroke and 1,916 with TIA). The percentage of stroke patients undergoing a CT scan increased from 89.47% in 2005 to 91.50% in 2010. In these patients, use of MRI also increased from 25.41% in 2005 to 36.02% in 2010. Among patients with TIA, use of CT increased from 84.64% to 88.04% and MRI from 32.53% to 39.13%. According to our results, female sex, younger age, and presence of comorbidities increase the likelihood of undergoing MRI.

Diagnóstico prenatal y manejo perinatal en enfermedades raras / Prenatal diagnosis and management of rare diseases

El diagnóstico y manejo prenatal de enfermedades raras involucra un estudio multidisciplinario. Desde una visión obstétrica, herramientas de imagenología como la ultrasonografía y en menor medida la resonancia magnética fetal (RMF) son esenciales para el diagnóstico de anomalías morfológicas y sospecha de defectos cromosómicos. Para el diagnóstico de enfermedades cromosómicas el estudio de cariograma obtenido de vellosidades coriales, líquido amniótico o sangre fetal mediante técnicas invasivas tal como biopsia corial, amniocentesis o cordocentesis ha sido hasta hace poco el gold standard del diagnóstico. Nuevas técnicas moleculares capaces de detectar microdeleciones como es el microarray nos ha permitido aproximarnos al origen de las enfermedades raras. Se revisarán además algunos de los defectos anatómicos raros y su enfoque neonatal.

Prenatal diagnosis and management of rare diseases is a multidisciplinary task. From the obstetric vision, prenatal diagnosis is based on fetal images obtained by ultrasound or magnetic resonance and fetal chromosomes study. The study of fetal morphology allows us the diagnosis of fetal abnormalities and the suspicion of chromosomal defects. Fetal chromosomal study is obtained either by chorionic villus sampling, amniocentesis and cordocentesis, all associated to fetal risk. New screening techniques such as fetal DNA on maternal blood or the study of fetal micro deletions using micro Array on amniotic fluid has extended diagnostic opportunity of rare fetal diseases. We will review some of the most common rare diseases and the neonatal approach.

Enfermedad de Creutzfeldt Jakob - Hospital de San José, Bogotá DC, Colombia / Creutzfeldt-jakob disease. Hospital de San José, Bogotá DC, Colombia

Se calcula que la incidencia de la enfermedad de Creutzfeldt Jakob (ECJ) es de cerca de un caso por cada millón de habitantes y aunque es poco frecuente genera en quienes la padecen consecuencias catastróficas, con signos que se inician por lo regular como un cuadro demencial progresivo e irreversible que ocasiona la muerte de manera inevitable. No hay tratamiento específico y el diagnóstico a pesar de los grandes avances científicos sigue siendo desconcertante, ya que el rendimiento de las pruebas disponibles no es el mejor. Quizá es el estudio anatomopatológico el que establece el diagnóstico, pero se requiere instrumental desechable que condiciona importantes costos a los servicios de salud, además del alto riesgo de infección al personal médico que se involucra en el procedimiento...

Incidence of Creutzfeldt-Jakob disease (CJD) is estimated in about one person in every one million people. Although CJD is rare it results in catastrophic consequences for affected patients. Initially individuals may primarily experience a progressive and irreversible dementia that invariably leads to death. There is no particular treatment and diagnosis remains to be baffling despite the great scientific breakthroughs achieved, for, the diagnostic test results available for this condition do not indicate a good performance. Diagnosis may be confirmed by a biopsy/pathology lab examinationrequiring the use of single-use instruments leading to increased costs for health services and increased risk of infection for healthcare providers who participate in the procedure...

Multifocal extramedullary plasmocytoma of the sinonasal region: a case report and literature review / Plasmocitoma multifocal extramedular de la región sinonasal: reporte de un caso y revisión de la literatura

We report on a patient who presented to ENT services with right side epistaxis, frontal lobe headache, right infraorbital pain and the feeling of having a stuffy nose. CT and MRI were performed and later a biopsy confirmed the presence of sinonasal plasmocytoma. The Head and Neck oncology committee recommended radiotherapy as the choice of treatment. At the present time the patient is being followed on scheduled medical visits.

Se reporta el caso de un paciente que se presentó en el servicio de Otorrinolaringología con epistaxis, cefalea del lóbulo frontal derecho, dolor infraorbitario derecho y la sensación de tener la nariz tapada. Se realizaron TC y RNM, y luego una biopsia confirmó la presencia de un plasmocitoma nasosinusal. El comité de oncología de cabeza y cuello recomendó radioterapia como tratamiento de elección. En la actualidad, el paciente está en siguimiento y control en las visitas médicas regulares.

Oxígeno hiperbáiico en el manejo de radionecross del tallo cerebral en una pacciente con méduloblastmma / Hyperbarc oxygenn in the management of radionecrosis bran stem in a pattient with medulloblastoma / Oxigenoerapia hiiperbárica na gestão de radionecrose brain stem em um paciente com meduloblastoma

La radionecrosis del tallo cerebral es una de las complicaciones de la radioterapia en pacientes que han recibido tratamiento para un tumor intracraneal, y aunque afortunadamente no es lo más frecuente, sus consecuencias pueden ser devastadoras, pues la importancia del tejido comprometido hace que se generen lesiones que pueden producir secuelas altamente incapacitantes y hasta la muerte del paciente como en efecto sucedió en el presente caso. Según la FDA (Food and Drug Administration) el Oxígeno Hiperbárico (OHB) se encuentra indicado en la radionecrosis ósea y radionecrosis de tejidos blandos (1); el Comité Europeo para Medicina Hiperbárica incluyó la radionecrosis del tejido nervioso central en las indicaciones del oxígeno hiperbárico (2). El caso reportado es el de una paciente de 28 años de edad, con un meduloblastoma de fosa posterior que fue tratado con cirugía y químio-radioterapia, quedando la paciente muy bien clínicamente. 21 meses después del tratamiento inicial presenta síntomas que sugieren una lesión en el tallo cerebral, por lo que nuevamente consulta y posterior a estudios imagenológicos se logra determinar que se trata de una lesión del tallo cerebral por radionecrosis. En julio de 2011 la paciente ya presentaba disartria, bradilalia, lateropulsión izquierda, diplopía, cefalea, marcha atáxica y espasticidad de las cuatro extremidades con predominio del hemicuerpo izquierdo. Al momento de iniciar el tratamiento con OHB (septiembre de 2011), se encontró cuadriparesia no funcional. Se realizaron 6 sesiones con OHB, tratamiento con bevacizumab y corticoides, a pesar de lo cual, la evolución de la paciente fue tórpida y rápidamente fulminante llevándola a la muerte en menos de seis meses. La discusión que surge con este caso clínico, es si el tratamiento con OHB debería ser más enfocado a la prevención y profilaxis que al tratamiento de lesiones que por su ubicación anatómica revisten una alta gravedad y pueden ser irreversibles, una vez que se encuentran instauradas.

Brain stem radionecrosis is a complication of radiotherapy in patients who have been treated for a tumor, and although fortunately not very common, its consequences can be devastating since the importance of the involved tissue causes generation of lesions which can give as a result highly disabling lesions or even the patient's death, as indeed happened in this case. According to the FDA (Food and Drug Administration), Hyperbaric Oxygen (HBO) is indicated in bone and soft tissues radionecrosis (Regulations, 2012), including in the latter the central nervous system. The reported case is a 28-year female patient presenting with a posterior fossa medulloblastoma that was treated with surgery and chemo-radiotherapy. Twenty one months after the initial treatment, she presents with symptoms suggestive of a brain stem lesion for which reason she consults once again, and after imaging studies, a brain stem lesion due to radionecrosis is ascertained. In July 2011 the patient was already presenting with dysarthria, bradilalia, left lateropulsion, diplopy, cephalea, ataxic gait and symmetrical spasticity with predominance of left hemibody. Upon treatment initiation with OHB (September 2011) nonfunctional quadriparesis was found. Six sessions with OHB were performed, and treatment with bevacizumab and corticosteroid agents was given despite which the patient's evolution was poor and fulminating leading to death within less than six months. The discussion rising from this clinical case is whether treatment with OHB should be more focused on prevention and prophylaxis than on treatment of lesions which, because of their anatomical location, entail high seriousness and can be irreversible once they are set up.

O radionecrose tronco cerebral é uma das complicações da radioterapia em pacientes tratados por um tumor intracraniano, e embora felizmente não tão freqüentes, as conseqüências podem ser devastadoras, como a importância da comprometidas causas lesão tecidual gerados que pode produzir altamente seqüelas incapacitantes e até mesmo a morte do paciente como de fato aconteceu neste caso. De acordo com o FDA (Food and Drug Administration) Oxigenoterapia Hiperbárica (OHB) a terapia é indicada na radionecrose radionecrose ossos e tecidos moles (1), o Comité Europeu de Medicina Hiperbárica incluído necrose radiação do tecido nervoso central nas indicações da oxigenoterapia hiperbárica (2). O caso é relatado de um 28-year-old com um meduloblastoma fossa posterior que foi tratado com cirurgia e quimio-radioterapia, o paciente permanecer clinicamente bem. 21 meses após o tratamento inicial tem sintomas que sugerem uma lesão no tronco cerebral, por isso novamente depois de estudos de consulta e de imagem foram capazes de determinar que é um prejuízo para o radionecrose tronco cerebral. Em julho de 2011, o paciente já teve disartria, bradilalia, lateropulsão esquerda, diplopia, cefaléia, ataxia de marcha e espasticidade de todos os quatro membros com dominância do hemisfério esquerdo. Ao iniciar o tratamento com HBO (Setembro de 2011), não encontrou quadriplegia funcional. Foram realizadas 6 sessões com OHB, bevacizumab e terapia com esteróides, apesar de que, a evolução do paciente foi entorpecida e rapidez fulminante levando à sua morte, em menos de seis meses.

[Clinical practice guideline for the diagnosis and treatment of pituitary apoplexy]. / Guía de práctica clínica para el diagnóstico y tratamiento de la apoplejía hipofisaria.

UNLABELLED: Classic pituitary apoplexy (PA) is an acute, life-threatening clinical syndrome caused by acute hemorrhage and/or infarction of the pituitary gland. PA is considered a neuroendocrinological emergency. However, there is no consensus about the best options for PA diagnosis and management. OBJECTIVE: To develop a clinical practice guideline with a number of recommendations for diagnosis and treatment of patients with PA based on the medical evidence available, in order to help clinicians involved in their care. METHODS: The clinical guideline for diagnosis and treatment of pituitary apoplexy issued in 2006 by the Neuroendocrinology Working Group of the Spanish Society of Endocrinology and Nutrition (SEEN) and the British Clinical Practice Guideline published in 2011 were taken as the basis. The text has been adapted to the format used in most international medical journals. For this, after updated medical literature, the quality of evidence and the strength of the recommendations were evaluated using the system proposed by the Agency for Health Care Policy and Research (AHCPR). CONCLUSIONS: Diagnosis of pituitary apoplexy should be considered in all patients with acute severe headache with or without neuro-ophthalmic signs. Patients with PA must undergo a complete history and physical examination. All patients with suspected pituitary apoplexy should have urgent blood samples drawn to test electrolytes, renal function, liver function, coagulation screen, complete blood count, and basal levels of pituitary and peripheral hormones, and to rule out adrenocorticotropic hormone (ACTH) deficiency. Formal visual field assessment should be performed when the patient is clinically stable. Magnetic resonance imaging (MRI) is the imaging test of choice to confirm diagnosis. Indications for empirical urgent corticosteroid therapy in patients with PA include hemodynamic instability, impaired consciousness, reduced visual acuity, and severe visual field defects. In patients with these severe neuro-ophthalmic signs, surgery should be considered. Surgery should preferably be performed within seven days of the onset of symptoms. Patients with mild and stable signs may be managed conservatively with careful monitoring. Treatment and long-term follow-up of patients with PA should be conducted by a multidisciplinary team consisting, amongst others, of an experienced pituitary neurosurgeon, an ophthalmologist, and an endocrinologist.

Análisis de los grosores tisulares a nivel de nasion y glabela según sexo y biotipo, en pacientes entre 20 y 27 años de edad / Nasion and glabela thickness tissue according to sex and biotypein patients between 20 and 27 years of age

La población chilena se caracteriza por ser una población muy heterogenea, debido a la gran mezcla exístente entre las distintas etnias y razas a lo largo del tiempo. Esto supone una gran diversidad de formas, tamaños y grosores de estructuras anatómicas, dentro de las cuales ubicamos a los grosores faciales. Si bien existen bases de datos de los grosores tisulares faciales en la población chilena, éstas han sido realizadas a través de técnicas como la ultrasonografía y punción, sin existir estudios realizados en Chile utilizando técnicas radiológicas para medir, como es la telerradiografía de perfil. Los objetivos fueron: 1. Medir los grosores tisulares a nivel de GB y NA, 2. Evaluar correlación de grosores según distribución por sexo y biotipo, 3. Comparar grosores entre distintos grupos, 4. Creación de una base de datos de referencia de la población chilena sobre el espesor del tejido blando a nivel de GB y Nay 5. Comparar los resultados obtenidos con otros estudios de grosores realizados en la población chilena. Se escogió al azar a 99 alumnos de odontología entre 20 a 27 años que necesitaban tratamiento de ortodoncia, a los cuales se les solicita una telerradiografía de perfil, en donde se mide los grosores de tejidos blandos a nivel de glabela y nasion, se clasifican a los pacientes según sexo y biotipo utilizando el análisis de Roth-Jaraback. Al analizar los resultados según sexo se observó siempre un grosor mayor en hombre que en mujer, con diferencia significativa a nivel de glabela y nasion. Al evaluar los resultados según biotipo no se observa diferencias siginificativas entre un biotipo y otro. Los hombres presentan un mayor grosor de tejido blando a nivel de glabela y nasion, con diferencia significativa en ambos. Se propone una nueva clasificación según biotipo, pero no se encuentra resultados concluyentes.

Chilean population is characterized for being heterogeneous, due to a large variety and mix of different ethnicities and races. This includes diversity in shapes, sizes and thickness of anatomic structures, part of which is facial thickness. Even though there are databases of facial tissue thickness for Chilean population, these have been carried out through techniques such as ultrasonography and puncture, without taking into consideration radiologic techniques, such as profile teleradiography. The aims of the study were: 1. Measure tissue thickness at GB and NA level, 2. Evaluate correlation in thickness according to distribution per sex and biotype. 3. Compare thickness among the groups. 4. Create a database of soft tissue thickness at GB and NA level in Chilean population, 5. Compare results with other studies regarding tissue thickness in Chilean population. Ninety-nine dentistry students between 20 and 27 years of age, candidates for orthodontic treatment, were randomly chosen. Lateral teleradiography was requested from all individuals, soft tissue thickness was measured at GB and NA level, classifying patients according to Roth-Jaraback analysis. When analysing the results according to sex, larger thickness was observed in men each time, with a significant difference at GB and NA levels. When evaluating biotype differences no significant difference was observed. Men showed thicker soft tissue at NA and GB level than women, with a significant difference between both. A new classification is proposed according to biotype, but no concluding data is found.

Qué sabemos hoy acerca del diagnóstico de las afecciones de la ATM / What do we know about the diagnosis of TMJ disorders

El conocimiento científico actual de patologías de la ATM señala la importancia de la investigación etiológica y la necesidad de un diagnóstico diferencial con los recursos tecnológicos más modernos. Entre esos recursos se incluyen: resonancia magnética, tomografía computarizada, estudios serológicos, mapeo genético y los instrumentos de bioelectrónica que permiten a los profesionales estudiar, entender y medir respectivamente, los cambios estructurales de los tejidos blandos y duros, las infecciones, la susceptibilidad genética a las enfermedades autoinmunes y la función del sistema estomatognático. El propósito de este artículo es elaborar un resumen de los conocimientos y las herramientas relacionadas empleadas en el diagnóstico de patologías de la ATM.(AU)

Qué sabemos hoy acerca del diagnóstico de las afecciones de la ATM / What do we know about the diagnosis of TMJ disorders

El conocimiento científico actual de patologías de la ATM señala la importancia de la investigación etiológica y la necesidad de un diagnóstico diferencial con los recursos tecnológicos más modernos. Entre esos recursos se incluyen: resonancia magnética, tomografía computarizada, estudios serológicos, mapeo genético y los instrumentos de bioelectrónica que permiten a los profesionales estudiar, entender y medir respectivamente, los cambios estructurales de los tejidos blandos y duros, las infecciones, la susceptibilidad genética a las enfermedades autoinmunes y la función del sistema estomatognático. El propósito de este artículo es elaborar un resumen de los conocimientos y las herramientas relacionadas empleadas en el diagnóstico de patologías de la ATM.

Temporomandibular joint magnetic resonance imaging analysis in adults with Steinert's myotonic dystrophy / Análisis con resonancia nuclear magnética de la articulación temporomandibular en pacientes adultos con distrofia miotónica de Steinert

The aim was to analyze the characteristics of the temporomandibular joint (TMJ) in a group of adult patients suffering from Steinert's muscular dystrophy (DM1). This study included 42 adult patients aged between 21 and 69 years (mean = 38.7619; SD = 12.74) who were diagnosed for DM1. Study was conducted using the MRI of right and left TMJ sagittal images taken in maximum intercuspidation position and maximum oral opening without pain, and the following were discussed: a) the quality of the cortical bone in the mandibular fossa, tuberosity, and mandibular head; b) the relationship of mandibular head­disc­joint tuberosity in maximum intercuspidation position; c) the anatomical shape of the articular disc. All patients showed abnormalities in the shape and surface of the cortical bone in the mandibularfossa, tuberosity, and the mandibular head. With regard to the relationship of the mandibular head in the mandibular fossa, 41% was found in the region 2B, 29% in 1B, 18% in 1A, 9% in 2C, and 3% in 2A of the TMJ. About 49% of the disc in maximum intercuspidation position was found on the mandibular head, 26% were anterior displaced, 14% had anterior dislocations, 38% had alterations in the form of disc, and 30% had preserved the anatomical shape. However, 98% of the discs showed hyposignal in T1 and T2. Using MRI, the decrease in the muscle activity in patients with DM1 was found to generate degenerative changes visible in the TMJ.

El objetivo de este estudio, fue analizar las características de la articulación temporomandibular (ATM) en un grupo de pacientes adultos portadores de distrofia muscular de Steinert (DM1). Fueron evaluados 42 pacientes adultos, con edades entre 21 y 69 años (Media=38,7619; DE=12,74) diagnosticados con DM1. Se realizó un estudio por RNM de ATM mediante imágenes sagitales de ATM derecha e izquierda en posición de máxima intercuspidación (MIC) y apertura máxima sin dolor, y se analizaron a) la calidad de las corticales de la fosa mandibular, tuberosidad y cabeza mandibular, b) la relación cabeza mandibular- disco- tuberosidad articular en MIC, c) la forma anatómica del disco articular. Todos los pacientes presentaron alteraciones en la forma y superficie de las corticales de la fosa mandibular, tuberosidad articular y cabeza mandibular. Con respecto a la relación de la CM en la FM, el 41% se encontró en la región 2B, el 29% 1B, 18% 1A, 9% 2A y 3% 2C de la ATM. El 49% de los discos en MIC se encontraron sobre la cabeza mandibular, 26% estaban desplazados anteriormente, 14% presentaron un dislocamiento anterior. El 38% presentó alteraciones de la forma del disco y 30% presentaron conservada la forma anatómica. El 98% de los discos presentaron hiposeñal en T1 y T2. La disminución de la actividad muscular en los pacientes con DMS genera cambios degenerativos en la ATM visibles con RNM.

Estudio preliminar de índices ecocardiográficos que permitanoptimizar la indicación de resonancia cardíaca en pacientes conTetralogía de Fallot reparada / Echocardiographic indexes help predict the need for nuclear magnetic resonance evaluation of patients with repaired tetralogy of fallot

Introducción: La Tetralogía de Fallot reparada (TOFr) a largo plazo evoluciona frecuentemente con insuficiencia pulmonar (IP). La resonancia magnética cardíaca (RMC) juega un rol fundamental en la indicación de recambio valvular pulmonar destinada a evitar las complicaciones de la IP. Objetivo: El objetivo de este trabajo es buscar qué índice(s) ecocardiográfico(s) permite(n) identificar a los pacientes con TOFr que tienen VD dilatado y fracción de eyección (FE) disminuida en la RMC. Método: En 20 pacientes (9 mujeres, 8-25 años, promedio 15,8 años) con TOFr se realizó ecocardiograma (ECO) y RMC en el Hospital Sótero del Río. Por ECO se obtuvieron mediciones de excursión sistólica máxima anular tricuspídea (TAPSE), onda s tisular, aceleración miocárdica isovolumétrica (IVA), y grado de IP (leve, moderado o severo). Por RMC se midieron la FE, volumen fin de diástole (VFD) del VD y fracción de regurgitación de la arteria pulmonar (FR). Se realizó un análisis estadístico multivariado. Resultados: No se obtuvo ninguna correlación entre algún parámetro de ECO versus VFD o FE del VD. Sin embargo, se encontró un modelo basado en el TAP-SE e IP que en nuestros pacientes pudo predecir el VDF del VD con un r2 = 0.6. (VDF-VD = 8.60*TAPSE + 36.19*IP - 77.213). Al comparar la IP con la FR se encontró que la ecografía puede distinguir correctamente aquellos casos que tienen IP leve de severa (p<0.001), o moderada de severa (p=0.004), pero no puede diferenciar con significancia estadística aquellos casos de IP leve de moderada (p=0.272). Conclusión: En este estudio preliminar se encontró un modelo estadístico basado en el TAPSE e IP que podría ser útil en la selección de pacientes que son derivados para estudio con RMC. La estimación del grado de IP medida por ECO es un parámetro fácil de obtener, sin embargo no siempre es informado en forma categórica (leve, moderado o severo). Si bien este estudio se debe validar en un mayor número de pacientes, éste nos indica la...

Background: Pulmonary insufficiency (PI) frequently appears long-term after repair of Tetralogy of Fallot (TOFr). Cardiac magnetic resonance (CMR) plays a fundamental role in the indication of pulmonary valve replacement, in order to avoid complications of PI. However, CMR is a scarce and expensive resource in our reality, which is why its indication must be optimized. Aim: The objective of this work is to find echocar-diographic indices to identify patients with TOFr with dilated RV and reduced ejection fraction (EF). Method: Images from echocardiograms (ECHO) and CMR in 20 patients (9 women, 8-25 years of age, average 15,8 years old) with TOFr were retrospectively reviewed. From ECHO images we obtained measurements for tricuspid annular plane systolic excursion (TAPSE), tissular s wave, isovolumetric acceleration (IVA), and severity of PI (mild, moderate, or severe). From CMR images, we measured EF, end diastolic volume (EDV) of the RV, and regurgitant fraction (RF) of the pulmonary artery. We performed a multivariate statistical analysis to explore the relation between ECHO parameters and CMR findings. Results: No correlation was found between individual ECHO parameters and EDV or RV EF. However, we did find a model based on the TAPSE and PI that was able to predict the EDV of the RV with an r2 = 0.6. (FDV-RV = 8.60*TAPSE + 36.19*PI - 77.213). After comparing the PI with RF, we found that that echocar-diography could correctly distinguish cases with mild PI from those with severe PI (p<0.001), or moderate from severe (p=0.004), but not mild from moderate PI. Conclusion: In this preliminary study, we found a statistical model based on the TAPSE and PI which could be useful in the selection of patients with TOFr that are referred to CMR. While this study needs to be validated on a greater number of patients, it indicates the relevance of some echocardiographic parameters, which should always be included in the evaluation of patients with TOFr.