Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Manifestaciones oftalmológicas compatibles con el síndrome de Waardenburg / Ophthalmological manifestations compatible with Waardenburg syndrome

RESUMEN El síndrome de Waardenburg es una enfermedad genética, con criterios diagnósticos como la distopia cantorum, las anomalías pigmentarias del iris, el hipertelorismo y la conjunción de las cejas. Se presentan dos casos de una misma familia quienes asistieron a la consulta de Oftalmología con manifestaciones compatibles con el síndrome de Waardenburg. Paciente de 12 años con asociación típica que inclu ye conjunción de las cejas, alteraciones en la pigmentación del iris (iris azul zafiro) y distopia cantorum, a los que se le une el antecedente de hipoacusia. Su madre, paciente de 37 años de edad, quien presenta la asociación típica, inclu ye alteraciones en la pigmentación del cabello (mechón de canas) y del iris (iris azul zafiro), distopia cantorum y antecedente de hipoacusia. El propósito de este estudio fue dar a conocer dos casos de la misma familia con una entidad infrecuente en la especialidad. No obstante, se pueden encontrar manifestaciones oftalmológicas que son compatibles con su diagnóstico, por lo que es elemental dirigir nuestra acción hacia una aten ción en forma interdisciplinaria y una remisión oportuna(AU)

ABSTRACT Waardenburg syndrome is a genetic disorder with diagnostic criteria such as dystopia canthorum, iris pigmentary abnormalities, hypertelorism and synophrys. A case is presented of two members of the same family who attend the ophthalmology service for manifestations compatible with Waardenburg syndrome. The two patients are a 12-year-old girl with a typical association, which includes synophrys, iris pigmentary alterations (brilliant blue iris) and dystopia canthorum, as well as a history of hypoacusis, and her 37-year-old mother, who presents the typical association, which includes alterations in the pigmentation of her hair (a forelock of white hair) and iris (brilliant blue iris), dystopia canthorum and a history of hypoacusis. The purpose of the study is to present two cases from the same family with a condition which is infrequent in the specialty. However, ophthalmological manifestations may be found which are compatible with its diagnosis, which should obviously enough lead to actions aimed at interdisciplinary care and timely referral(AU)

Síndrome de Waardenburg tipo 1 en gemelos monocigóticos y su familia / Type 1 Waardenburg Syndrome in Monozygotic Twins and their Family

El síndrome de Waardenburg (SW) es un trastorno genético poco frecuente con una incidencia de 1 por 40000 habitantes. Es originado por mutaciones en múltiples genes como PAX3, MITF, SNAI2 y SOX10; estas alteraciones genéticas ocasionan anomalías en el desarrollo de los tejidos derivados de las células de la cresta neural y producen hallazgos fenotípicos característicos como iris de color azul claro o heterocromía del iris, poliosis, sordera neurosensorial, entre otros. El objetivo de este artículo es reportar a la literatura un caso poco frecuente de gemelos monocigóticos con hallazgos clínicos típicos de síndrome de Waardenburg tipo 1 con fenotipo diferente entre ellos, su madre y su abuela. Aquí también se establece la importancia del índice W en el diagnóstico y clasificación de este síndrome. Los hallazgos aquí reportados muestran la variabilidad de las manifestaciones fenotípicas del síndrome de Waardenburg tipo 1 dentro de una familia y especialmente en gemelos monocigóticos, lo que se ha explicado por la expresión variable de genes específicos o por la interacción de ellos con genes modificadores. Cabe resaltar que los gemelos fueron expuestos a alcohol en el primer trimestre del embarazo, por lo cual se propone que la expresión variable del SW fue influenciada por exposiciones a agentes medioambientales.

Waardenburg Syndrome is a rare genetic disorder with an incidence of 1 in 40.000 individuals. It is caused by mutations in multiple genes such as PAX3, MITF, SNAI2 and SOX10. These genetic alterations cause abnormal development of tissues derived from neural crest cells and produce phenotypic characteristic findings as light blue iris or iris heterochromia, poliosis and sensorineural hearing loss, among others. The aim of this article is to report to the literature a rare case of monozygotic twins with typical clinical findings of type 1 Waardenburg Syndrome with different phenotype between them, including their mother and grandmother. The use of W index to identify cantorum dystopia and to classify the cases according to the four types of Waardenburg syndrome is explained. The findings reported here show the variability of phenotypic manifestations of type 1 Waardenburg Syndrome within a family and particularly in monozygotic twins, which is explained by the variable expression of specific genes or the interaction of these with modifier genes. Given the fetal exposure of the twins to alcohol, it is proposed that the variable expression of Waardenburg Syndrome would be influenced by exposure to environmental agents.

Síndrome Waardenburg. Presentación de una familia afectada / Syndrome Waardenburg. Presentation of an affected family

Fundamento: El síndrome de Waardenburg es una enfermedad genética caracterizada por anomalías de la pigmentación y sordera neurosensorial. Se describen varios tipos clínicos, con gran heterogeneidad genética, la mayoría de los casos publicados presentan un patrón de herencia autosómico dominante, aunque se describen otras formas de herencia. Objetivo: Mostrar una familia con varios miembros afectados representativa de expresividad variable. Presentación de caso: Se presenta una familia con siete enfermos donde predomina la hipoacusia de grado variable al igual que las alteraciones de la pigmentación de la piel, el pelo y el iris. El adecuado diagnóstico y asesoramiento genético, unido a la oportuna intervención con el implante coclear ha permitido la incorporación adecuada en la enseñanza normal a estos enfermos. Conclusiones: Es importante el diagnóstico oportuno para realizar acciones con la finalidad de mejorar la calidad de vida y la correcta incorporación social de estos pacientes.

Background: The syndrome of Waardenburg is a genetic illness characterized by anomalies of the pigmentation and neurosensory deafness. Several clinical types are described, with great genetic heterogeneity; most of the published cases present a pattern of autos’omico dominant inheritance, although other inheritance forms are described Objective: To show a representative family with several affected members of variable expression. Case presentation: A family is presented with seven sick persons where the hypo acoustic of variable grade prevail the same as the alterations of the pigmentation of the skin, the hair and the iris. The appropriate diagnose and genetic advice, together to the opportune intervention with the cochlear implants has allowed the adapted incorporation in the normal teaching to these sick persons Conclusions: It is important the opportune diagnosis to carry out actions with the purpose of improving the quality of life and the correct social incorporation of these patients.

Implante coclear en síndrome de Waardenburg: nuestra experiencia / Cochlear implant in Waardenburg syndrome: our experience / Implante coclear em síndrome de Waardenburg: nossa experiência

Introducción: El síndrome de Waardenburg hace referencia a un grupo de enfermedades hereditarias que aparecen como consecuencia de una alteración de la migración de células derivadas de la cresta neural entre la octava y décima semana de gestación. De ellas derivan melanocitos que migran a la estría vascular del órgano de Corti. Estos pacientes se caracterizan por presentar hipoacusia neurosensorial congénita de grado variable y alteraciones pigmentarias en piel, cabello y ojos. Su incidencia es de 1/42.000 habitantes y corresponde al 5% de hipoacusia neurosensorial sindrómica, siendo la causa más frecuente con patrón de herencia dominante. Método: Revisión de 4 pacientes menores de 18 años, con síndrome de Waardenburg asociado a hipoacusia neurosensorial severa a profunda, uni o bilateral, implantados en nuestro servicio. Se estudiaron todos los pacientes con audiometría tonal, logoaudiometría, potenciales evocados auditivos de tronco, tomografía computada y resonancia magnética. Además todos los pacientes contaban con estudio genético, psicodiagnóstico y seguimiento por pediatría, dermatología y oftalmología. Resultados: Todos nuestros pacientes presentaron telemetrías de impedancia normales, sus implantes fueron encendidos al mes postquirúrgico y en todos los casos se registraron buenos resultados audiológicos y mejoría en su calidad de vida. Conclusiones: Creemos importante conocer los aspectos básicos de esta patología para poder realizar una derivación pertinente y una atención en forma interdisciplinaria del paciente. La colocación de implantes cocleares en este grupo de pacientes con hipoacusia neurosensorial severa a profunda es satisfactorio.

Background: Waardenburg syndrome refers to agroup of inherited diseases that occur due to alteredmigration of cells derived from neural crest betweenthe eighth and tenth week of pregnancy. Ofthose derived melanocytes that migrate to the groovevascular organ of Corti. These patients are characterizedby congenital sensorineural hearing lossof variable degree and pigmentary changes in skin,hair and eyes. Its incidence is 1/42000 inhabitants and corresponds to 5% of syndromic sensorineuralhearing loss being the most common cause with dominantinheritance pattern. Method: Review of 4 patients under 18 years withWaardenburg syndrome associated with severeto profound sensorineural hearing loss, unilateralor bilateral, implanted in our service. All patientswere studied with audiometry, speech perceptiontest, brain stem auditory evoked responses, CT andMRI. Additionally, all patients had genetic testing,pedagogic evaluation and follow-up by pediatrics,dermatology and ophthalmology. Results: All our patients had normal impedancetelemetry, their implants were fired at postoperative month and in all cases good audiological resultsand improvement occurred in their quality of life.Conclusions: We believe that it’s important toknow the basics of this disease to make an appropriatereferral and interdisciplinary approach of the patient. Cochlear implants in this group of patientswith severe to profound sensorineural hearing lossis satisfactory.

Introdução: A síndrome de Waardenburg faz referência a um grupo de doenças hereditárias que aparecem como consequência de uma alteração da migração de células derivadas da crista neural entre a oitava e a décima semana de gestação. Delas derivam melanócitos que migram para a estria vascular do órgão de Corti. Estes pacientes se caracterizam por apresentar hipoacusia neurossensorial congênita de grau variável e alterações pigmentares na pele, cabelo e olhos. A incidência é de 1/42000 habitante-se corresponde a 5% de hipoacusia neurossensorial sindrômica sendo a causa mais frequente com padrão de herança dominante.Método: Revisão de 4 pacientes menores de 18anos, com síndrome de Waardenburg associada à hipoacusia neurossensorial severa a profunda, uniou bilateral, implantados no nosso serviço. Foram estudados todos os pacientes com audiometria tonal, logo audiometria, potenciais evocados auditivos de tronco, tomografia computadorizada e ressonância magnética. Além disso, todos os pacientes contavam com estudo genético, psicodiagnóstico e acompanhamento por pediatria, dermatologia e oftalmologia.Resultados: Todos os nossos pacientes apresentaram telemetrias de impedância normais, os seus implantes foram ligados um mês após a cirurgia e em todos os casos foram registrados bons resultados audiológicos e melhoria na sua qualidade de vida.Conclusões: Acreditamos que seja importante conhecer os aspectos básicos desta patologia para poder realizar uma derivação pertinente e um atendimento interdisciplinar do paciente. A colocação de implantes cocleares neste grupo de pacientes com hipoacusia neurossensorial severa a profunda é satisfatória.

Síndrome de Waardenburg: las discapacidades y el aspecto físico, su vinculación con el rendimiento académico y las relaciones sociales / Waardenburg's syndrome: disabilities and physical features, association with academic achievement and social relations

Introducción: el síndrome de Waardenburg es una entidad infrecuente, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y la discapacidad visual; se ha detectado en el municipio Sandino en Pinar del Río, una familia con 26 individuos vivos portadores del síndrome de Waardenburg. Objetivo: determinar la posible relación de estas discapacidades con el rendimiento académico y las relaciones sociales en estas personas. Material y método: se realizó un estudio de casos, observacional, transversal y descriptivo a las personas pertenecientes a una familia con síndrome de Waardenburg del municipio Sandino. Resultados: la presente investigación incorpora aspectos importantes del síndrome de Waardenburg, no descritos anteriormente, que ofrece la posibilidad de mostrarlos de una manera novedosa para enriquecer y actualizar el conocimiento de esta entidad. Conclusiones: las discapacidades auditivas unidas al aspecto físico fueron las principales dificultades para encontrar el empleo en los casos con síndrome de Waardenburg, y para realizarlo eficientemente.

Introduction: Waardenburg's syndrome is a rare entity, having a certain degree of disability when sensorineural hypoacusis and visual disability appear. A family of 26 carriers (all them alive) of Waardenburg's syndrome who lives in Sandino municipality, Pinar del Rio province was detected. Objective: to determine the possible association of disabilities with academic achievement and social relations among these subjects. Material and method: an observational, cross-sectional and descriptive case-study was carried out with people belonging to a family suffering from Waardenburg's syndrome in Sandino municipality. Results: this research incorporates important aspects of Waardenburg's syndrome not previously described; which offer the possibility of showing them in a new way to improve and update knowledge of this entity. Conclusions: hearing disabilities together with physical features were the main difficulties to find a job and to perform it efficiently in people suffering from Waardenburg's syndrome.

Trastornos oculares y otras enfermedades en casos con síndrome de Waardenburg / Ocular disorders and other diseases in patients suffering from Waardenburg’s syndrome

Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones. Objetivo: determinar las alteraciones oculares y otras enfermedades crónicas de una familia afectada con el síndrome de Waardenburg. Material y método: estudio de casos, observacional, transversal y descriptivo realizado a una familia con síndrome de Waardenburg en el municipio Sandino. Se confeccionó base de datos automatizada. Las variables utilizadas fueron los trastornos de la agudeza visual, refracción visual y otras alteraciones. Se utilizaron medidas de frecuencia: absolutas y relativas porcentuales. Resultados: entre las alteraciones visuales crónicas 17 presentaron trastornos de la refracción, cuatro individuos padecían glaucoma y uno cataratas, no se encontró ningún caso de discapacidad visual. Los 4 individuos con hipertensión arterial, dos coinciden con los que padecen de glaucoma y la otra es diabética. Conclusiones: fueron detectados varios trastornos de la refracción y la agudeza visual, sin llegar a la discapacidad.

Introduction: Waardenburg’s syndrome is a rare, hereditary entity which presents heterochromia of the iris, dystopia canthorum and having a certain degree of disability when sensorineural hypoacusis appears; among other alterations. Objective: to determine ocular alterations and other chronic diseases that a family suffering from Waardenburg’s syndrome present. Material and Method: observational, cross-sectional and descriptive case study carried out with a family suffering from Waardenburg’s syndrome in Sandino municipality, Pinar del Rio. A database was created. The variables used were visual acuity, visual refraction and other alterations. Absolute and relative percentages were used as measures of frequency. Results: among these chronic visual alterations, 17 of them presented refraction disorders, 4 individuals suffered from glaucoma and cataracts, no cases of visual failure were found. Out of the fourth hypertensive individuals, two suffered from glaucoma and one from diabetes mellitus. Conclusions: several refraction disorders and visual acuity were detected, without disability on these patients.

Síndrome de Waardenburg: aspectos oftalmológicos e critérios de diagnóstico: relatos de casos / Waardenburg syndrome: ophthalmic findings and criteria for diagnosis: case reports

OBJETIVO: Descrever as características clínicas e imaginológicas de duas famílias com a síndrome de Waardenburg, sendo uma do tipo I e outra do tipo II, enfatizando as manifestações oftalmológicas, bem como o padrão de herança genética. MÉTODO: Realizou-se um estudo clínico envolvendo as duas famílias afetadas pela síndrome de Waardenburg, sendo, através dos heredogramas, determinado o padrão de herança genética presente. Também foram realizadas análises oftalmológicas abordando a medida da acuidade visual, a presença de distopia cantorum (telecanto), a avaliação da coloração da íris e o mapeamento de retina, além de exames otológicos e dermatológicos. RESULTADOS: O heredograma da família afetada pela síndrome de Waardenburg tipo I revelou um modo autossômico dominante de transmissão. A condição estava presente em 85,71% dos pacientes. A distopia cantorum foi a alteração mais frequente, seguida pela mecha branca na pele da fronte, hipopigmentação da íris e da retina e surdez neurossensorial. A família com síndrome de Waardenburg tipo II apresentou 33,33% dos familiares com a alteração. Nenhum membro apresentou distopia cantorum e hipopigmentação de íris. Três pacientes apresentaram surdez neurossensorial (12,5%), associada ao topete branco e manchas acrômicas confluentes pelo corpo. CONCLUSÃO: O presente estudo mostra a importância do oftalmologista no auxílio do diagnóstico desta rara condição genética, uma vez que inclui alterações oftalmológicas como telecanto, hipopigmentação da íris e retina. A distopia cantorum é o principal critério diagnóstico para diferenciar o tipo I do II e deve ser feita por oftalmologista treinado. As famílias encontram-se em acompanhamento multiprofissional, tendo recebido orientações genéticas e os cuidados referentes à proteção ocular.

PURPOSE: To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS: We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. RESULTS: The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. CONCLUSION: This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

Síndrome de Waardenburg: relato de casos / Waardenburg syndrome: case reports

JUSTIFICATIVA E OBJETIVOS: A síndrome de Waardenburg é uma doença genética que na forma clássica, os pacientes apresentam várias características físicas marcantes e também surdez neurossensorial. Assim, a partir da exposição dos casos espera-se que os profissionais de saúde tomem conhecimento da doença e possam levantar a hipótese diagnóstica diante de um pacientecom fenótipo sugestivo, tendo em vista que possui baixa frequência na população e seu diagnóstico precoce melhora muito a qualidade de vida dos pacientes.RELATO DOS CASOS: Trata-se de três casos dentro de uma mesma família com características diferentes, inclusive, em relação à surdez genética. Características marcantes estão presentes nos casos, como: dystopia canthorum, epicanto, base nasal proeminente e alargada, maxila encurtada, poliose, encanecimento precoce e surdez congênita neurossensorial. CONCLUSÃO: A grande maioria dos casos desta síndrome é acompanhada de surdez congênita. As características físicas que acompanham a doença permitem o seu diagnóstico clínico, e o ideal seria que esses pacientes fossem diagnosticados ainda na infância para que possam ter acesso precocemente à reabilitação auditiva, contribuindo para melhor desenvolvimento neuropsíquico, levando-se em conta que eles também deverão receber aconselhamento genético.

BACKGROUND AND OBJECTIVES: Waardenburg syndrome is a rare genetic disease that shows variable penetrance and expressivity. In its classic form, patients have several outstanding characteristics, such as deafness. Thus, from the exposure of cases, it is important to be aware of this clinical disease, to health professionals, for early diagnosis, avoiding unnecessary examinations, and achieving effective therapeutic approach.CASE REPORTS: These are three cases in one family with different characteristics, including in relation to genetic deafness. Striking features are present in cases like: dystopia canthorum, epicanthus, prominent and broad nasal base, shortened jaw, poliosis, premature graying and congenital sensorineural deafness. CONCLUSION: Most cases of this syndrome is accompanied by congenital deafness. Therefore, early diagnosis will certainly help in hearing rehabilitation, improving the capacity of developing hearing and communication skills of these individuals.

Síndrome de Waardenburg: clasificación clínica de una familia / Waardenburg's syndrome: clinical classification of a family

Introducción: El síndrome de Waardenburg (SW) es una entidad infrecuente, hereditaria, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y su cuadro clínico no está completamente definido. Objetivo: Describir las características clínicas de una familia afectada con el síndrome y las variantes encontradas. Material y Método: Estudio de casos, observacional, transversal y descriptivo. Se confeccionó una base de datos automatizada. Las variables utilizadas fueron los signos clínicos, incluyendo la clasificación de la hipoacusia. Se utilizaron medidas de frecuencia: absolutas y relativas porcentuales, y se empleó la prueba de X² al 95 % de certeza. Resultados: De los signos clásicos el 100 % mostró distopia cantorum, el resto apareció con variabilidad. Se observaron signos no descritos anteriormente, entre los cuales destacó el dorso nasal recto (65,4 %). Se detectó hallux valgus en 4 de los individuos, lo que permitió clasificar a los individuos en 19 del tipo I, y los 7 restantes en la subvariante 1 del tipo III. Conclusiones: Las alteraciones óseas encontradas en individuos con SW permiten clasificarlos como portadores de la subvariante III-1, no descrita previamente.

Background: Waardenburg Syndrome (SW) is a rare inherited disorder characterized by varying degrees of disability, when sensorineural hearing loss appear and its clinical chart is not definitely complete. Objective: to describe the clinical characteristics of a family suffering from this entity and the variables found. Material and Method: observational, cross-sectional and descriptive case studies. An automated database was created, using the variables of clinical signs, including the classification of hypoacusis. Measures of frequency were employed: absolute and relative percentages as well as X² test with 95% of confidence. Results: out of the classical signs 100% showed dystopia canthorum, the rest appeared with variability. Observing signs not previously described, among them, a marked straight-nasal dorsum (65,4%). Hallux valgus was detected in 4 of the subjects; which allowed classifying them into: 19 of Type-I and the rest (7) in the sub-variant-1 of Type-III. Conclusions: the osseous alterations found in subjects suffering from SW allowed classifying them as sub-variant III-1 carriers, not previously described.

Color del iris e hipoacusia en el Síndrome de Waardenburg. Pinar del Río, Cuba / Color of the iris and hypoacusis in Waardenburg Syndrome. Pinar del Rio, Cuba

Introducción: Aunque se han descrito hipoacusia neurosensorial y cambios de color en el iris, la relación entre estos no ha sido estudiada previamente. Objetivos: Describir y analizar la posible asociación de la hipoacusia y profundidad de ésta con el color del iris en una familia afectada con el síndrome, lo que constituiría un nuevo aporte al conocimiento del Síndrome de Waardenburg (SW). Material y Método: Se realizó un estudio de casos, observacional, transversal y descriptivo con algunos aspectos analíticos en personas con SW del Municipio Sandino. Se utilizaron las medidas de resumen para variables cualitativas y la prueba de X² para medir asociación al 95 % de certeza. Resultados: 15 individuos presentaron hipoacusia neurosensorial de diferentes distribución e intensidad, con predominio de los ojos pardos y azules bilaterales. Se detectó mayor frecuencia de individuos hipoacúsicos entre los que tenían ojos azules con asociación entre las dos variables (X²= 6,47, gl = 1; p = 0.01). La intensidad de la hipoacusia fue mayor entre los individuos con ojos azules (85.7 % con hipoacusia severa o profunda) 3 veces superior que en los otros colores de los ojos. Conclusiones: Existe relación entre el color azul del iris y la presencia de la hipoacusia y mayor intensidad de esta última en individuos con SW.

Background: Although sensorineural hearing loss and iris pigmentary changes have been described, the association between these two elements has not been previously studied. Objectives: to describe and analyze the possible association of hypoacusis and the intensity of this with the color of the iris in a family suffering from this syndrome; which will constitute a new contribution to the understanding of Waardenburg Syndrome (WS). Material and Method: an observational, cross-sectional and descriptive case-study was carried out having some analytic aspects in people suffering from WS in Sandino municipality, Pinar del Rio. Measures of review to conduct qualitative variables and chi square test X2 to measure the association of 95% of confidence. Results: about 15 individuals presented sensorineural hearing loss of different distribution and intensity, prevailing brown and blue bilateral eyes. A greater frequency of individuals with hypoacusis and blue eyes was found in association between the two variables (X2= 6,47, gl = 1; p = 0.01). Hypoacusis was greater in blue-eyed individuals (85.7% with severe or profound hypoacusis), three times superior than in the other color of eyes. Conclusions: an association between the blue color of the iris and the presence of hypoacusis along with a greater intensity of hearing loss in individuals suffering from WS was observed.

Síndrome de Waardenburg tipo I: relato de caso / Waardenburg syndrome type I: case report

A síndrome de Waardenburg tipo I é uma desordem auditivo-pigmentária que inclui, entre outros, perda auditiva neurossensorial congênita não progressiva, telecanto, distúrbios pigmentares de íris, cabelo e pele. Indivíduos afetados podem ter maior risco de: defeitos no tubo neural, fendas labial e palatina, anormalidades nos membros e doença de Hirschsprung. O diagnóstico é clínico, sendo necessários dois critérios maiores ou um maior e dois menores. PAX3 é o único gene conhecido associado à síndrome, sendo, entretanto, mais usado no aconselhamento genético. Quanto ao diagnóstico diferencial, podemos citar: outras causas de perda auditiva neurossensorial congênita não progressiva, outros tipo de síndrome de Waardenburg, piebaldismo, albinismo, vitiligo e síndrome de Teitz. Neste trabalho, apresenta-se um paciente masculino de 11 anos com diagnóstico de síndrome de Waardenburg tipo I. Ressalta-se a importância do oftalmologista no auxílio do diagnóstico deste raro quadro sistêmico, uma vez que inclui algumas alterações oftalmológicas. O diagnóstico precoce da síndrome permite estimulação adequada para a perda auditiva, assim como medidas preventivas em caso de gestantes afetadas no aconselhamento genético.

Waardenburg syndrome (WS) type I is a non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). Affected individuals may have higher risk of: neural tube defects, cleft lip and palate, limb abnormalities, and Hirschsprung disease. The diagnosis is clinical and should be considered if the individual has two major or one major plus two minor criteria. PAX3 is the only known gene associated to the syndrome. Nevertheless, its use is mostly for genetic counseling. Regarding different diagnosis, we may list: other causes of non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss, other types of Waardenburg syndrome, piebaldism, albinism, vitiligo and Teitz syndrome. This paper presents a case of an eleven year old boy with deafness and ophthalmologic alterations, based on his files and exams. It reinforced the importance of the ophthalmologist contributing for the diagnosis of this rare systemic disease, as it includes some ophthalmologic alterations. We remind that the early diagnosis allows adequate stimulation for the hearing loss, as well as preventive measures in case of pregnant women affected by genetic counseling.

Síndrome de Waardenburg. Variabilidad en una familia en Sandino, Pinar del Río, Cuba / Waardenburg syndrome: variability in a Sandino family

El síndrome de Waardenburg es una enfermedad infrecuente, autosómica y dominante que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial, sin embargo, se ha detectado en Sandino, Pinar del Río, Cuba, una familia con 26 individuos vivos portadores del síndrome. Se describe por primera vez el estudio general de la familia desde el primer portador, y se demuestra la variabilidad individual en los portadores.

Waardenburg Syndrome (WS) is a non-frequent autosomal dominant disease, showing a certain degree of disability when neurosensitive hypoacusia appears; however, in Sandino, Pinar de Río, Cuba a family, from whom 26 alive relatives show WS. The general study of this family from the first ill relative, and the individual variability is showed.