Características otorrinolaringológicas en niños con trisomía 21: un estudio de 171 pacientes en el Hospital Infantil de México Federico Gómez.

Introduction: Children with trisomy 21 face a wide range of conditions in the head and neck region, for which it is important that physicians are aware and have a strong understanding of the ear, nose, and throat (ENT) disorders, and their management as well. Methods: Retrospective case series of pediatric patients with trisomy 21. The spectrum of otolaryngological manifestations, their management, and outcomes of each case were analysed. Results: One hundred and seventeen pediatric patients were included. The mean age was 7.2 ± 4.2 years. More than half of the patients (63%) had hearing loss (HL). The most frequent presentation was conductive HL, predominating the mild and bilateral type. The most common otological manifestations found were external ear canal stenosis and Eustachian tube dysfunction. Up to 75% of the patients with otologic involvement required some surgical procedure. The most common rhinological manifestations were chronic rhinosinusitis and allergic rhinitis. Obstructive sleep apnea (OSA) was present in 30% of all patients, which main treatment was tonsillectomy, followed by continuous positive and biphasic positive airway pressure treatments. Less than 5% of the patients presented a laryngeal compromise. Conclusions: Pediatric patients with trisomy 21 systematically should be referred to periodic ENT assessment due to the high incidence of manifestations in this region. Timely treatments should be offered in order to improve the health and the quality of life of the patient.

Introducción: Los niños con trisomía 21 enfrentan una amplia gama de problemas en la región de la cabeza y el cuello, por lo cual es importante reconocer las manifestaciones otorrinolaringológicas que presentan, así como su apropiado manejo. Métodos: Estudio de serie de casos retrospectivo de pacientes pediátricos con trisomía 21. De cada caso se analizó el espectro de manifestaciones otorrinolaringológicas, el manejo establecido y los resultados. Resultados: Se incluyeron 171 niños. La edad media de la primera valoración por otorrinolaringología en la institución fue de 7.2 ± 4.2 años. Las manifestaciones otológicas más frecuentes fueron la estenosis del conducto auditivo externo y la disfunción de la trompa de Eustaquio. Más de la mitad de los pacientes (63%) presentaron hipoacusia, principalmente de tipo conductivo bilateral, y hasta el 75% de los pacientes con afectación otológica requirieron algún procedimiento quirúrgico. Las manifestaciones rinológicas más comunes fueron la rinosinusitis crónica y la rinitis alérgica. La apnea obstructiva del sueño estuvo presente en el 30% de los pacientes. El tratamiento principal fue la amigdalectomía, seguida del tratamiento con dispositivos de presión positiva de la vía aérea. Menos del 5% de los pacientes presentaron un compromiso laríngeo. Conclusiones: Los pacientes pediátricos con trisomía 21 deben ser remitidos sistemáticamente a una evaluación otorrinolaringológica periódica, debido a la alta incidencia de manifestaciones en esta región. Se deben ofrecer tratamientos oportunos para mejorar su salud y calidad de vida.

Actualización en el manejo del síndrome de Turner en niñas y adolescentes: revisión de la literatura e Incorporación de recomendaciones de las nuevas guías clínicas / Update on the management of Turner syndrome in girls and adolescents: review of the literature and incorporation of recommendations of the new clinical guidelines

Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.

El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.

The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis / Impacto do tratamento com laronidase nas manifestações otorrinolaringológicas de pacientes com mucopolissacaridose

ABSTRACT INTRODUCTION: Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of a-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. OBJECTIVE: To evaluate the impact of enzymatic replacement therapy with laronidase (Aldurazyme(r)) in patients with mucopolysaccharidosis (MPS I), regarding sleep and hearing disorders, and clinical manifestations in the upper respiratory tract (URT). METHODS: Nine patients with MPS I (8 Hurler-Scheie, and 1 Scheie phenotypes) of both sexes, ages ranging between 3 and 20 years, were included in this study. Patients were evaluated between seven and 11 months before the treatment and between 16 and 22 months after the onset of the enzymatic replacement. They were all submitted to a clinical and otolaryngological evaluation, including nasofibroscopical, polysomnographic and audiologic exams. RESULTS: The results' data showed decreasing of the frequency of ear, nose and throat infections, with improvement of the rhinorrhea and respiratory quality. No remarkable changes were observed regarding macroglossia and tonsil and adenoid hypertrophy. Audiometric and polysomnographic evaluations did not show statistical significance. CONCLUSION: Enzymatic replacement therapy in patients with mucopolysaccharidosis I provides control of recurrent URT infections, rhinorrhea and respiratory quality, however it is does not seem to improve audiologic and polisomnographic parameters, with no effect on adenoid and tonsils hypertrophy and macroglossia.

Resumo Introdução: Mucopolissacaridose (MPS) é uma doença de depósito lisossômico causada pela deficiência de a-l-iduronidase. Os achados otorrinolaringológicos incluem perda auditiva, otorreia, otites de repetição, hipertrofia adenotonsilar, rinossinusite recorrente, distúrbios da fala, roncos, respiração bucal e obstrução nasal. Objetivo: Avaliar o impacto da terapia de reposição enzimática com laronidase (Aldurazyme(r)) em pacientes com mucopolissacaridose I (MPS I) em relação ao sono, distúrbios auditivos e manifestações clínicas do trato respiratório superior (TRS). Método: Nove pacientes com MPS I (oito com fenótipo Hurler-Scheie e um com fenótipo Scheie), de ambos os sexos, com idades variando entre 3 e 20 anos, foram incluídos neste estudo. Os pacientes foram avaliados entre 7 e 11 meses antes do tratamento e entre 16 e 22 meses após o início da substituição enzimática. Todos foram submetidos a uma avaliação clínica e otorrinolaringológica, incluindo nasofibroscopia, polissonografia e exames radiológicos. Resultados: Os dados dos resultados mostraram diminuição da frequência de infecções de orelha, nariz e garganta, com melhora da rinorreia e da qualidade respiratória. Mudanças significativas não foram observadas em relação à macroglossia e à hipertrofia adenotonsilar. Avaliações audiométricas e polissonográficas não apresentaram significância estatística. Conclusão: A terapia de reposição enzimática em pacientes com mucopolissacaridose I fornece controle de infecções recorrentes do TRS, rinorreia e qualidade respiratória, porém, não parece melhorar os parâmetros audiológicos e polissonográficos, ou exercer efeito sobre a hipertrofia adenotonsilar e macroglossia.

The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis.

INTRODUCTION: Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of α-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. OBJECTIVE: To evaluate the impact of enzymatic replacement therapy with laronidase (Aldurazyme(®)) in patients with mucopolysaccharidosis (MPS I), regarding sleep and hearing disorders, and clinical manifestations in the upper respiratory tract (URT). METHODS: Nine patients with MPS I (8 Hurler-Scheie, and 1 Scheie phenotypes) of both sexes, ages ranging between 3 and 20 years, were included in this study. Patients were evaluated between seven and 11 months before the treatment and between 16 and 22 months after the onset of the enzymatic replacement. They were all submitted to a clinical and otolaryngological evaluation, including nasofibroscopical, polysomnographic and audiologic exams. RESULTS: The results' data showed decreasing of the frequency of ear, nose and throat infections, with improvement of the rhinorrhea and respiratory quality. No remarkable changes were observed regarding macroglossia and tonsil and adenoid hypertrophy. Audiometric and polysomnographic evaluations did not show statistical significance. CONCLUSION: Enzymatic replacement therapy in patients with mucopolysaccharidosis I provides control of recurrent URT infections, rhinorrhea and respiratory quality, however it is does not seem to improve audiologic and polisomnographic parameters, with no effect on adenoid and tonsils hypertrophy and macroglossia.

Perfil de morbilidad otorrinolaringológica en niños con síndrome de Down / Ear, nose and throat disease profile in children with Down syndrome

Introducción: Los niños con síndrome de Down (SD) tienen mayor riesgo de desarrollar enfermedad otorrinolaringológica (ORL). Recomendaciones internacionales sugieren realizar tamizaje auditivo precoz y control periódico por especialista. Nuestro objetivo fue caracterizar la enfermedad ORL en niños con SD y proponer una recomendación adaptada a nuestra realidad. Pacientes y método: Estudio transversal, descriptivo, en niños de 6 meses a 15 años con SD. Los datos se obtuvieron por medio de entrevista a los padres y revisión de fichas clínicas. Resultados: Se analizaron 134 pacientes, con una edad promedio de 44,5 meses. El 78,8% de ellos presentaba enfermedad ORL, siendo la más frecuente la rinitis alérgica y otitis con efusión. El tamizaje auditivo estaba alterado en un 25% de ellos, el 50% de los mayores de 3 años con estudio de sueño tenían apnea obstructiva del sueño. Los niños de mayor edad tuvieron estadísticamente mayor frecuencia de enfermedad ORL. Conclusiones: Esta serie muestra una alta frecuencia de enfermedad ORL en niños con SD, lo que refuerza la necesidad de realizar tamizaje auditivo, sospechar e identificar las apneas obstructivas del sueño y derivación rutinaria al especialista para optimización de las condiciones auditivas que permitan el mejor desarrollo del niño con SD.

Introduction: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. Patients and method: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. Results: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. Conclusions: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.

[Ear, nose and throat disease profile in children with Down syndrome]. / Perfil de morbilidad otorrinolaringológica en niños con síndrome de Down.

INTRODUCTION: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. PATIENTS AND METHOD: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. RESULTS: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. CONCLUSIONS: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.

Otorhinolaryngological findings in a group of patients with rheumatic diseases.

INTRODUCTION: Otorhinolaryngological manifestations of rheumatologic diseases represent a great challenge not only to the generalistphysician but also to the ENT doctor andrheumatologist. They often represent early manifestations of an autoimmune disorder which requires prompt and aggressive immunosuppressive treatment. Auditory, nasal, laryngeal and eye symptoms can be the first manifestation of rheumatic diseases and their proper assessment helps the doctor to identify signs of disease activity. The objective of this study is to identify the ENT manifestations in patients with rheumatic diseases in a high complexity hospital, regarding facilitating an early diagnosis and treatment. METHODS: We performed clinical and complete otorhinolaryngological evaluations in patients selected from the outpatient rheumatology in a standardized manner by the use of a standardized form filling during the secondhalf of 2010. RESULTS: In the study group, systemic lupus erythematosus (SLE) patients had predominantly laryngeal manifestations, while patients with Sjögren's syndrome showed a higher prevalence of otologic manifestations. Changes in audiometric tests were found in 53% of Wegener's granulomatosis (WG) patients, 80% of relapsing polychondritis (RP), 33% of systemic lupus erythematosus (SLE) and 50% of Churg-Strauss syndrome (SCS). Regarding nasal alterations, these were found so prevalent in all conditions, especially Churg-Strauss syndrome. DISCUSSION AND CONCLUSION: This study demonstrated that most patients treated in our hospital has the ENT signs and symptoms commonly associated in previous studies on rheumatic diseases, but further studies with a larger number of patients must be made to establish such relations.

Achados otorrinolaringológicos em um grupo de pacientes com doenças reumatológicas / Otorhinolaryngological findings in a group of patients with rheumatic diseases

Introdução: As manifestações otorrinolaringológicas de doenças reumáticas representam um grande desafio não só ao médico generalista, mas também ao otorrinolaringologista e ao reumatologista. Frequentemente representam manifestações iniciais de uma desordem autoimune que exige um tratamento imunossupressor imediato e agressivo. Sintomas auditivos, nasais, laríngeos e oculares podem ser a primeira manifestação de doenças reumáticas, e sua correta avaliação auxilia o médico a identificar sinais de atividade da doença. O objetivo deste trabalho foi identificar as manifestações otorrinolaringológicas em pacientes com doenças reumáticas em um hospital de alta complexidade, no que se refere a facilitar diagnóstico e tratamento precoces. Métodos: Foram realizadas avaliações clínicas e otorrinolaringológicas completas em pacientes selecionados no ambulatório de reumatologia, no segundo semestre do ano de 2010, de forma padronizada e com utilização de um formulário de preenchimento normatizado. Resultados: No grupo estudado, pacientes com LES apresentaram predominantemente manifestações laríngeas, enquanto pacientes com síndrome de Sjögren apresentaram predomínio das manifestações otológicas (100% dos casos). As alterações de exames audiométricos são encontradas em 53% dos casos portadores de GW, 80% de PR, 33% de LES e 50% de SCS. Quanto às alterações nasais, estas foram encontradas de forma prevalente em todas as patologias, principalmente a síndrome de Churg-Strauss. Discussão e conclusão: Este estudo demonstrou que a maioria dos pacientes em seguimento em nosso serviço apresenta os sinais e sintomas otorrinolaringológicos comumente relacionados em ...

Introduction: Otorhinolaryngological manifestations of rheumatologic diseases represent a great challenge not only to the generalistphysician but also to the ENT doctor andrheumatologist. They often represent early manifestations of an autoimmune disorder which requires prompt and aggressive immunosuppressive treatment. Auditory, nasal, laryngeal and eye symptoms can be the first manifestation of rheumatic diseases and their proper assessment helps the doctor to identify signs of disease activity. The objective of this study is to identify the ENT manifestations in patients with rheumatic diseases in a high complexity hospital, regarding facilitating an early diagnosis and treatment. Methods: We performed clinical and complete otorhinolaryngological evaluations in patients selected from the outpatient rheumatology in a standardized manner by the use of a standardized form filling during the secondhalf of 2010. Results: In the study group, systemic lupus erythematosus (SLE) patients had predominantly laryngeal manifestations, while patients with Sjögren's syndrome showed a higher prevalence of otologic manifestations. Changes in audiometric tests were found in 53% of Wegener's granulomatosis (WG) patients, 80% of relapsing polychondritis (RP), 33% of systemic lupus erythematosus (SLE) and 50% of Churg-Strauss syndrome (SCS). Regarding nasal alterations, these were found so prevalent in all conditions, especially Churg-Strauss syndrome. Discussion and conclusion: This study demonstrated that most patients treated in our hospital has the ENT signs and symptoms commonly associated in previous studies on rheumatic diseases, but further studies with a larger number of patients must be made to establish such relations. .

Manifestações extraesofágicas da DRGE / Extraesophageal manifestations of GERD

A doença do refluxo gastroesofágico é decorrente do fluxo retrógrado de secreção cloridropéptica para o esôfago e órgãos adjacentes, causando um espectro variável de lesões e sintomas. Sua incidência vem aumentando nos últimos anos e sua prevalência estimada na população brasileira é de cerca de 12%. A DRGE tem como manifestações típicas a pirose e a regurgitação, podendo se apresentar com queixas extraesofágicas tais como asma, tosse crônica, dor torácica não cardíaca e sintomas otorrinolaringológicos.

Gastro-oesophageal reflux disease is caused by the retrograde flow of gastric acid-peptic secretion into the esophagus and adjacent organs, causing a variable spectrum of lesions and symptoms. Its incidence has been increasing in recent years and its estimated prevalence in the Brazilian population is about 12%. Typical manifestations of GERD are heartburn and regurgitation, but the disease may present with extraesophageal complaints such as asthma, chronic cough, non-cardiac chest pain and ENT symptoms.

Displasia ectodérmica hipohidrótica: revisión de sus manifestaciones otorrinolaringologías a propósito de dos casos / Hypohidrotic ectodermal dysplasia: review of ENT manifestations on purpose of two cases

La displasia ectodérmica hipohidrótica es una enfermedad hereditaria, infrecuente en la población general, caracterizada clínicamente por la tríada de hipohidrosis, deficiencias dentarias y falta de crecimiento de cabello. Además, se afectan otros anexos cutaneos como folículos pilosos, uñas y dientes e incluso estructuras como las glándulas mucosas del tracto aerodigestivo superior lo que puede ocasionar signos, síntomas y patologías de interés para el otorrinolaringólogo. Se presentan dos casos clínicos, un adulto y un niño, y se revisa la literatura respecto de las manifestaciones de la displasia ectodérmica hipohidrótica en cabeza y cuello.

Hypohidrotic ectodermal dysplasia is an uncommon, hereditary disease, clinically characterized by the triad of hypohidrosis, dental deficiencies and lack of hair growth. In addition, it affects other skin appendages such as hair follicles, nails and teeth and even structures such as the mucous glands of the upper aerodigestive tract causing signs and also symptoms and pathologies of interest for the otolaryngologist. Two cases are presented, an adult and a child one,an in addition to literature review regarding the manifestations of hypohidrotic ectodermal dysplasia in head and neck.

Head and neck manifestations of the immune reconstitution syndrome in HIV-infected patients: a cohort study.

OBJECTIVE: To describe head and neck manifestations of immune reconstitution inflammatory syndrome (IRIS) in a cohort of HIV-infected patients receiving combined antiretroviral therapy (cART). After initiation of cART, some HIV-infected patients present a paradoxical worsening and clinical deterioration due to pathological inflammatory reactions to infectious or noninfectious antigens, a condition known as IRIS. STUDY DESIGN: Prospective study with a follow-up period of 6 to 24 months. SETTING: Tertiary referral center in Mexico City. METHODS: Our cohort was integrated by 165 patients who had started cART within the past 2 months prior to study entry. Patients underwent a complete ear, nose, and throat examination (ENT). Laboratory tests (hematology and blood chemistry), cultures from body fluids, and biopsies were performed. RESULTS: Of the 165 patients studied, 21 (12.7%) presented IRIS in the head and neck region. Kaposi sarcoma was the most common presentation, observed in 7 patients. Tuberculosis-associated IRIS was observed in 6 patients with scrophulas, lymph node enlargement, or retropharyngeal abscess. Other manifestations included herpes simplex I infection and unilateral vocal fold palsy secondary to Mycobacterium avium intracelulare paratracheal abscess and scrophulas, as well as cervical lymph node histoplasmosis and facial palsy. CONCLUSIONS: To our knowledge, this is the first prospective study describing the different manifestations of IRIS in the head and neck region.

Prevalence of broncopulmonary and otorhinolaryngologic symptoms in children under investigation for gastroesophageal reflux disease: retrospective analysis.

UNLABELLED: Gastroesophageal reflux disease (GERD) is a common ailment in children, adding up to the evidence that gastroesophageal reflux is an important cofactor in upper airway disorders, especially in the pediatric population. It is very common for it to impact the upper and lower airways. Our goal was to assess the presence of otorhinolaryngological symptoms in children aged between one and twelve years in whom gastroesophageal reflux is suspected. MATERIALS AND METHODS: We assessed data from the charts of patients up to 12 years of age submitted to 24 hour pH measuring of one of two channels, placed at 2 and 5 cm from the LEE in order to confirm the diagnosis of Gastroesophageal Reflux Disease. RESULTS: We studied 143 charts from children who underwent 24 hour pH measuring to investigate GERD; however, only 65 were included. The most prevalent symptoms in the children were bronchopulmonary, found in 89.2%, of sinonasal symptoms (72.3%), otologic (46.1%) and repetition UAW infections (44.6%). When we compared the presence of each group of symptoms of the results from the pH measuring, no significant differences were found between the symptoms and the pH measuring results. CONCLUSION: GERD can manifest in different ways and otorhinolaryngological symptoms are frequent in children.

Otolaryngologic manifestations in HIV disease--clinical aspects and treatment.

UNLABELLED: HIV is a pandemic infection with cases notified in almost all countries. The reported prevalence of symptoms in the head and neck is about 80%; otolaryngologists may be the first physician to see such patients. Oral manifestations are the most common, followed by neck and sinus manifestations. Otolaryngologic symptoms may be important signs of antiretroviral therapy failure. Symptoms are present in acute infections and advanced cases. OBJECTIVE: To describe new approaches in the past five years for the treatment of the most frequent otolaryngologic manifestations in HIV patients. METHODS: Systematic reviews and case series published in English and Portuguese from January 2002 to October 2007 including the most common otolaryngology manifestations were selected. CONCLUSION: Otolaryngologic manifestations are common and ENT specialists must be prepared to identify such cases.

Prevalence of broncopulmonary and otorhinolaryngologic symptoms in children under investigation for gastroesophageal reflux disease: retrospective analysis / Prevalência de achados broncopulmonares e otorrinolaringológicos em crianças sob investigação de doença do refluxo gastroesofágico: análise retrospectiva

Gastroesophageal reflux disease (GERD) is a common ailment in children, adding up to the evidence that gastroesophageal reflux is an important cofactor in upper airway disorders, especially in the pediatric population. It is very common for it to impact the upper and lower airways. Our goal was to assess the presence of otorhinolaryngological symptoms in children aged between one and twelve years in whom gastroesophageal reflux is suspected. MATERIALS AND METHODS: We assessed data from the charts of patients up to 12 years of age submitted to 24 hour pH measuring of one of two channels, placed at 2 and 5 cm from the LEE in order to confirm the diagnosis of Gastroesophageal Reflux Disease. RESULTS: We studied 143 charts from children who underwent 24 hour pH measuring to investigate GERD; however, only 65 were included. The most prevalent symptoms in the children were bronchopulmonary, found in 89.2 percent, of sinonasal symptoms (72.3 percent), otologic (46.1 percent) and repetition UAW infections (44.6 percent). When we compared the presence of each group of symptoms of the results from the pH measuring, no significant differences were found between the symptoms and the pH measuring results. CONCLUSION: GERD can manifest in different ways and otorhinolaryngological symptoms are frequent in children.

A Doença do Refluxo Gastroesofágico (DRGE) é uma afecção comum na infância, aumentando as evidências de que o refluxo gastroesofágico seja um cofator importante que contribui para as desordens de vias aéreas, principalmente na população pediátrica. É muito comum serem observadas manifestações em vias aéreas superiores e inferiores. Nosso objetivo é avaliar a presença de sintomas otorrinolaringológicos em crianças com idade de um a 12 anos e suspeita de doença do refluxo gastroesofágico. MATERIAIS E MÉTODO: Foram avaliados dados de prontuários de pacientes de até 12 anos submetidos à pHmetria de 24 horas de um ou dois canais, locados a 2 e 5 cm do EEI para confirmação de diagnóstico de Doença do Refluxo Gastroesofágico. RESULTADOS: Foram analisados 143 prontuários de crianças que realizaram pHmetria de 24 horas para investigação de DRGE; porém 65 foram incluídas. Os sintomas mais prevalentes nas crianças eram os broncopulmonares, encontrados em 89,2 por cento, de sintomas nasossinusais (72,3 por cento) , otológicos (46,1 por cento) e de infecções de VAS de repetição (44,6 por cento). Quando comparada a presença de cada grupo de sintomas com o resultado da pHmetria, não foi encontrada diferença significativa entre os sintomas e o resultado da pHmetria. CONCLUSÃO: DRGE pode se manifestar de diversas maneiras e os sintomas otorrinolaringológicos são frequentes em crianças.

Otolaryngologic manifestations in HIV disease: clinical aspects and treatment / Manifestações otorrinolaringológicas na infecção pelo HIV: aspectos clínicos e terapêuticos

HIV is a pandemic infection with cases notified in almost all countries. The reported prevalence of symptoms in the head and neck is about 80 percent; otolaryngologists may be the first physician to see such patients. Oral manifestations are the most common, followed by neck and sinus manifestations. Otolaryngologic symptoms may be important signs of antiretroviral therapy failure. Symptoms are present in acute infections and advanced cases. OBJECTIVE: To describe new approaches in the past five years for the treatment of the most frequent otolaryngologic manifestations in HIV patients. METHODS: Systematic reviews and case series published in English and Portuguese from January 2002 to October 2007 including the most common otolaryngology manifestations were selected. CONCLUSION: Otolaryngologic manifestations are common and ENT specialists must be prepared to identify such cases.

A infecção por HIV/AIDS é uma pandemia, com casos notificados em quase todos os países. Estudos retrospectivos apontam uma prevalência em torno de 80 por cento dos sintomas na região da cabeça e pescoço, podendo ser o otorrinolaringologista o primeiro médico a ser procurado pelo paciente. As manifestações orais são as mais frequentes, seguidas pelo acometimento cervical, nasossinusal e, menos comumente, otológico. As lesões orais podem representar importantes marcadores clínicos da falha do tratamento antirretroviral. Tais sintomas podem estar presentes desde a infecção aguda até estágios avançados da doença. OBJETIVO: Determinar o avanço e as novas condutas no tratamento das principais manifestações otorrinolaringológicas no paciente soropositivo pelo levantamento de artigos publicados entre 2002 e 2007. MATERIAL E MÉTODO: Foram selecionados artigos de revisão sistemática e séries de caso, na língua inglesa e portuguesa, publicados no período de janeiro de 2002 a outubro de 2007, baseando-se nas manifestações otorrinolaringológicas mais comuns previamente publicadas. CONCLUSÃO: As manifestações otorrinolaringológicas são frequentes no consultório e o otorrino deve saber identificá-las e tratá-las adequadamente.

Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa.

UNLABELLED: Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa. AIM: this paper aims to describe the otorhinolaryngological manifestations and esophageal complications related to EB, and the experience in treating patients with esophageal stenosis secondary to this disease. MATERIALS AND METHOD: this descriptive study enrolled 60 patients with EB seen from June 1999 to December 2006 at the Head and Neck Surgery Service of X Hospital, a reference center for EB. RESULTS: the patients' mean age was 14.5 years. Twenty-eight (46.6%) were females and 32 (53.4%) were males. Eight (13.4%) were diagnosed with epidermolysis bullosa simplex, while 51 (85%) had epidermolysis bullosa dystrophica; one (1.6%) patient had one acquired EB. Lips, mouth, tongue and ears were the most frequently involved sites (32 patients - 53.3%). Dysphagia was found in 28 patients (46.6%). After esophageal dilatation the symptoms subsided. CONCLUSION: EB is a rare disease and patients must be sent for treatment at reference centers. Physicians treating patients for EB must be aware of the measures required to improve the quality of the treatment provided without putting the patients in harm's way.

Aspectos clínicos da síndrome de Sturge-Weber:[revisão] / Clinical features of Sturge-Weber syndrome: [review]

Introdução: A Síndrome de Sturge-Weber é uma rara condição de desenvolvimento congênita, sendo caracterizada por uma desordem neurocutânea com angiomas envolvendo as leptomeninges e a pele da face, preferencialmente no trajeto do ramos oftálmico (V1) e maxilar (V2) do nervo trigêmeo. Objetivo: Realizar uma revisão de literatura sobre a Síndrome de Sturge-Weber, enfatizando aspectos atuais. Método: Foram consultadas as bases de dados on-line EMedicine, Encyclopedia of Medicine, Find Articles, LILACS, MEDLINE, Merkmanuals On-Line Medical Library e SciELO, aplicando à pesquisa os termos: Síndrome de Sturge-Weber, síndromes neuro-cutâneas, angiomatose encefalotrigeminal, nevo flamíneo, para artigos publicados entre 1991 e 2007. Revisão de Literatura:O achado clínico mais característico é a presença, já ao nascimento, do nevo flamíneo que atinge, geralmente, uma metade da face podendo estender-se até o pescoço; além disso, outras manifestações clínicas podem estar presentes, como a angiomatose corticocerebral, calcificações cerebrais, epilepsia, afecções oculares, bucais e retardo mental.O diagnóstico é estabelecido por meio da pesquisa de alterações neurológicas e oftálmicas em pacientes com o nevo flamíneo característico, aliando-se aos dados clínicos exames complementares como Tomografia Computadorizada.O tratamento consiste, basicamente, em controlar as manifestações clínicas já evidentes e prevenir o surgimento de outras alterações, principalmente orais e oculares. Conclusão: Esta síndrome, apesar de pouco freqüente, precisa ser precocemente diagnosticada, visto que acarreta uma série de complicações aos seus portadores quando não tratada, principalmente por atingir o Sistema Nervoso Central.Os profissionais da saúde devem, portanto, estar aptos a reconhecer seus sinais e sintomas característicos, e assim melhorar a qualidade de vida desses pacientes.

Introduction: The Syndrome of Sturge-Weber is a rare condition of congenital development, and is characterized by a neurocutaneous disorder with angiomas wrapping the leptomeninges and the face skin, mainly in the course of ophthalmic (V1) and maxillary (V2) branches of the trigeminal nerve. Objective: To review the literature about the Sturge-Weber Syndrome with emphasis on the current aspects. Method: The following databases were searched: EMedicine, Encyclopedia of Medicine, FindArticles, LILACS, MEDLINE, Merck Manuals On-Line Medical Library and Scielo, and the searches applied the terms: Sturge-Weber Syndrome, neurocutaneous syndromes, encephalo-trigeminal angiomatosis, nevus flammeus, in articles published between 1991 and 2007. Literature's Review: The most characteristic clinical statement is the presence, since the birth, of nevus flammeus, that generally reaches one half of the face and may stretch out up to the neck; in addition, other clinical manifestations may be present, like the corticocerebral angiomatosis, cerebral calcifications, epilepsy, ocular and buccal affections and mental retardation. The diagnosis is established by means of the inquiry of neurological and ophthalmic alterations in patients with a characteristic nevus flammeus, allied to the clinical data of complementary exams such as Computerized Tomography. The treatment consists basically of controlling the already confirmed clinical manifestations and preventing from the appearing of other alterations, mainly buccal and ocular. Conclusion: This syndrome is not much frequent, but it needs to be early diagnosed, since it brings a series of complications to its carriers when not treated, specially because of reaching the Nervous Central System. The health professionals have to be suitably able to recognize its characteristic signs and symptoms, and so improve the quality of life of these patients.

Manifestações otorrinolaringológicas e esofágicas da epidermólise bolhosa / Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa

Epidermólise bolhosa (EB) é um conjunto de afecções bolhosas, de caráter hereditário, com diferentes quadros clínicos e diferentes modos de transmissão genética. Os indivíduos evoluem com bolhas na pele e mucosas, que surgem espontaneamente ou após mínimos traumatismos. OBJETIVO: Descrever as manifestações otorrinolaringológicas, as complicações esofágicas relacionadas à EB e a experiência na conduta de pacientes com estenose esofágica decorrente da EB. CASUÍSTICA E MÉTODO: Estudo descritivo de 60 pacientes com EB, atendidos de 1999 a 2006, no serviço de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço do Hospital X, centro de referência para EB. RESULTADOS: Dos 60 pacientes com idade média de 14,5 anos, 28 (46,6 por cento) eram mulheres e 32 (53,4 por cento) homens. Oito (13,4 por cento) tinham o diagnóstico de EB simples, 51 (85 por cento) EB distrófica e um (1,6 por cento) caso de EB adquirida. Lábios, boca, língua e pavilhão auricular foram os locais mais acometidos (32 pacientes - 53,3 por cento). Disfagia foi encontrada em 28 pacientes (46,6 por cento). Após dilatação do esôfago todos apresentaram remissão do sintoma. CONCLUSÃO: EB é uma doença rara e os pacientes devem ser encaminhados para tratamento em centros de referência. Portanto, é fundamental que os médicos envolvidos com os cuidados de pacientes com EB conheçam as condutas necessárias para melhorar a qualidade do tratamento sem prejuízos adicionais.

Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa. AIM: this paper aims to describe the otorhinolaryngological manifestations and esophageal complications related to EB, and the experience in treating patients with esophageal stenosis secondary to this disease. MATERIALS AND METHOD: this descriptive study enrolled 60 patients with EB seen from June 1999 to December 2006 at the Head and Neck Surgery Service of X Hospital, a reference center for EB. RESULTS: the patients' mean age was 14.5 years. Twenty-eight (46.6 percent) were females and 32 (53.4 percent) were males. Eight (13.4 percent) were diagnosed with epidermolysis bullosa simplex, while 51 (85 percent) had epidermolysis bullosa dystrophica; one (1.6 percent) patient had one acquired EB. Lips, mouth, tongue and ears were the most frequently involved sites (32 patients - 53.3 percent). Dysphagia was found in 28 patients (46.6 percent). After esophageal dilatation the symptoms subsided. CONCLUSION: EB is a rare disease and patients must be sent for treatment at reference centers. Physicians treating patients for EB must be aware of the measures required to improve the quality of the treatment provided without putting the patients in harm's way.

Manifestaciones otorrinolaringológicas en la enfermedad de Takayasu / Otolaryngologic manifestations in Takaysasu´s disease

Takayasu arteritis is a chronic idiopathic granulomatous vasculitis, which affects the aorta and its major branches, causing narrowing of the vascular lumen, which explains his particular symptoms. In children, its main manifestations are hypertension, cardiomegaly, increasing of the erythrocyte sedimentation rate, among others. We present a case of a girl aged 16, who has a long history of ozena. At physical examination there are nasal scabs and cacosmia. In the laboratory study highlights high levels of C Reactive Protein and erythrocyte sedimentation rate. The study through angio-Tac, shows a significant narrowing of supraaortic vascular structures.

Aspectos clínicos otorrinolaringológicos da doença de Charcot-Marie-Tooth / Otorhinolaryngological clinical features of Charcot-Marie-Tooth

A doença de Charcot-Marie-Tooth é a neuropatia periférica hereditária mais comum em seres humanos, apresentando a incidência de 1:2500 pessoas...

Charcot-Marie-Tooth disease is the most common hereditary peripheral neuropathy in humans, presenting incidence of 1:2500 people...