RESUMO

RESUMO O objetivo deste estudo foi relatar a abordagem interdisciplinar no manejo da macroglossia em um caso de paciente com síndrome de Beckwith-Wiedemann, no período de dez anos. O acompanhamento iniciou pela equipe de Cirurgia Bucomaxilofacial, seguido da Fonoaudiologia, em função de dificuldades alimentares. Após avaliação clínica e instrumental, aos 8 meses de idade, iniciou-se a intervenção fonoaudiológica com foco na disfagia orofaríngea e na terapia miofuncional orofacial. Foi verificado, com 1 ano e 11 meses, ausência de sinais de alteração de deglutição em fase faríngea e melhora na postura de lábios e língua. Aos 3 anos, foram iniciados estímulos para retirada dos hábitos orais e o treino da função mastigatória. O tratamento ortodôntico para correção de mordida aberta anterior e mordida cruzada posterior unilateral iniciou-se aos 6 anos. Aos 7 anos e 5 meses de idade, constatou-se estabilidade do modo respiratório nasal e adequação da postura de repouso de lábios e língua. Aos 9 anos, em função de recidiva das alterações oclusais, optou-se pela redução cirúrgica da língua seguida de terapia miofuncional orofacial, retomada aos 9 anos e 3 meses. O resultado foi a correção da postura da língua na deglutição e a adequação da fala. A associação dos tratamentos, envolvendo Fonoaudiologia, Ortodontia e Cirurgia Bucomaxilofacial foi considerada efetiva no manejo da macroglossia, resultando na adequação e equilíbrio das funções orofaciais.

ABSTRACT This study aims to report the interdisciplinary management of macroglossia in a Beckwith-Wiedemann syndrome patient during ten years. Clinical follow-up started by the Oral and Maxillofacial Surgery team, followed by Speech Therapy due to feeding difficulties. After clinical and instrumental evaluation, at 8 months old, the speech therapy intervention was indicated, focusing on oropharyngeal dysphagia and orofacial myofunctional therapy. At 1 year and 11 months, no signs of swallowing alteration in the pharyngeal phase and improvement in the posture of the lips and tongue were found. At the age of 3, stimulation to remove oral habits and train masticatory function were initiated. Orthodontic treatment to correct anterior open bite and unilateral posterior crossbite started at age 6. At 7 years and 5 months, there was stability in the nasal breathing mode and adequacy of resting posture of lips and tongue. At the age of 9, due to relapse of the occlusal alterations, surgical reduction of the tongue was indicated, followed by orofacial myofunctional therapy, restarted at the age of 9 years and 3 months. The result was the correction of the posture of the tongue during swallowing and speech adequacy. The association of treatments involving Speech Therapy, Orthodontics and Oral and Maxillofacial Surgery was considered effective in the management of the macroglossia. It resulted in the adequacy and equilibrium of orofacial functions.

Assuntos

RESUMO

INTRODUCTION: Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively. OBJECTIVE: To evaluate the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methylation analysis technique in the diagnosis of BWS and SRS. METHODS: 11p15.5 methylation and variants were evaluated in patients with clinical diagnosis of BWS and SRS using the MS-MLPA technique in peripheral blood DNA. RESULTS: Paternal uniparental disomy and loss of maternal IC2 methylation were identified in two patients with BWS who had omphalocele and macroglossia, respectively. Paternal IC1hypomethylation was recorded in two patients with SRS of classic phenotype. CONCLUSIONS: Adequate genotype-phenotype correlation was observed with the methylation defects that were identified, which confirms the usefulness of MLPA as a first-line study in patients diagnosed with BWS and SRS.

INTRODUCCIÓN: Las alteraciones epigenéticas y genómicas de la región improntada 11p15.5 producen crecimiento excesivo o deficiente, que se manifiesta como síndrome de Beckwith-Wiedemann o síndrome de Silver-Russell, respectivamente. OBJETIVO: Evaluar la técnica de análisis de metilación MLPA (MS-MLPA, methylation-specific multiplex ligation-dependent probe amplification) en el diagnóstico de los síndromes de Beckwith-Wiedemann y de Silver-Russell. MÉTODOS: Se evaluó la metilación y las variantes de 11p15.5 en pacientes con diagnóstico clínico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell mediante la técnica MS-MLPA en ADN de sangre periférica. RESULTADOS: Se identificó disomía uniparental paterna y pérdida de metilación del IC2 materno en dos pacientes con síndrome de Beckwith-Wiedemann, quienes presentaron onfalocele y macroglosia, respectivamente. Se registró hipometilación paterna del IC1 en dos pacientes con síndrome de Silver-Russell de fenotipo clásico. CONCLUSIONES: Se observó adecuada correlación genotipo-fenotipo con los defectos de metilación encontrados, lo que confirma la utilidad del MLPA como estudio de primera línea en pacientes con diagnóstico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell.

Assuntos

RESUMO

Resumen Introducción: Las alteraciones epigenéticas y genómicas de la región improntada 11p15.5 producen crecimiento excesivo o deficiente, que se manifiesta como síndrome de Beckwith-Wiedemann o síndrome de Silver-Russell, respectivamente. Objetivo: Evaluar la técnica de análisis de metilación MLPA (MS-MLPA, methylation-specific multiplex ligation-dependent probe amplification) en el diagnóstico de los síndromes de Beckwith-Wiedemann y de Silver-Russell. Métodos: Se evaluó la metilación y las variantes de 11p15.5 en pacientes con diagnóstico clínico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell mediante la técnica MS-MLPA en ADN de sangre periférica. Resultados: Se identificó disomía uniparental paterna y pérdida de metilación del IC2 materno en dos pacientes con síndrome de Beckwith-Wiedemann, quienes presentaron onfalocele y macroglosia, respectivamente. Se registró hipometilación paterna del IC1 en dos pacientes con síndrome de Silver-Russell de fenotipo clásico. Conclusiones: Se observó adecuada correlación genotipo-fenotipo con los defectos de metilación encontrados, lo que confirma la utilidad del MLPA como estudio de primera línea en pacientes con diagnóstico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell.

Abstract Introduction: Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively. Objective: To evaluate the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methylation analysis technique in the diagnosis of BWS and SRS. Methods: 11p15.5 methylation and variants were evaluated in patients with clinical diagnosis of BWS and SRS using the MS-MLPA technique in peripheral blood DNA. Results: Paternal uniparental disomy and loss of maternal IC2 methylation were identified in two patients with BWS who had omphalocele and macroglossia, respectively. Paternal IC1hypomethylation was recorded in two patients with SRS of classic phenotype. Conclusions: Adequate genotype-phenotype correlation was observed with the methylation defects that were identified, which confirms the usefulness of MLPA as a first-line study in patients diagnosed with BWS and SRS.

RESUMO

This review is intended to draw attention to the importance of the culture media composition on the health of the embryos, fetuses, newborns, and adults derived from assisted reproductive technologies (ART). Although current research and industry trends are to use chemically defined media because of their suitability for manufacturing, commercialization, and regulatory purposes, compelling evidence indicates that those media fail to adequately account for the biological demands of early embryogenesis. Here, we list the main undesirable consequences of the ART described in the literature and results we and others have obtained over the past decade exploring an alternative and more natural way to support embryo growth in vitro: inclusion of endogenous reproductive fluids as additives in the ART culture media for pigs, cows, and humans. This review systematically assesses the pros and cons of using reproductive fluid additives, as well as the requirements to implement this approach in the future.

RESUMO

This review is intended to draw attention to the importance of the culture media composition on the health of the embryos, fetuses, newborns, and adults derived from assisted reproductive technologies (ART). Although current research and industry trends are to use chemically defined media because of their suitability for manufacturing, commercialization, and regulatory purposes, compelling evidence indicates that those media fail to adequately account for the biological demands of early embryogenesis. Here, we list the main undesirable consequences of the ART described in the literature and results we and others have obtained over the past decade exploring an alternative and more natural way to support embryo growth in vitro: inclusion of endogenous reproductive fluids as additives in the ART culture media for pigs, cows, and humans. This review systematically assesses the pros and cons of using reproductive fluid additives, as well as the requirements to implement this approach in the future.(AU)

Assuntos

RESUMO

OBJECTIVE: To provide information on evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth. STUDY DESIGN: This retrospective study investigates leg length discrepancy longitudinally in 105 patients with lateralized overgrowth either isolated (n = 37) or associated with Beckwith-Wiedemann spectrum (n = 56) or PIK3CA-related overgrowth spectrum (n = 12). Discrepancy was measured by standard methods and categorized as minor, mild, severe, and critical, based on the thresholds of 1, 2 and 5, respectively. RESULTS: The period of observation from diagnosis was 1.7 ± 2.6 to 9.0 ± 6.0 years. Leg length discrepancy was 11.0 ± 7.2 mm at diagnosis and 17.1 ± 14.4 mm at last visit. Both final leg length discrepancy and change over time were correlated with discrepancy at diagnosis (r2 = 0.45, P < .001 and r2 = 0.05, P = .019, respectively). Among minor leg length discrepancy at diagnosis, 47.5% remained minor, 40.0% become mild, and 12.5% severe. Among patients with discrepancy classified as severe at diagnosis, 84.6% remained severe and 15.4% evolved to critical. The isolated lateralized overgrowth group showed a milder evolution over time compared with Beckwith-Wiedemann spectrum and PIK3CA-related overgrowth spectrum groups. Among patients with Beckwith-Wiedemann, those with paternal chromosome 11 uniparental disomy had more severe leg length discrepancy at diagnosis and evolution over time. CONCLUSIONS: Leg length discrepancy associated with isolated or syndromic lateralized overgrowth tends to worsen with growth and correlates with discrepancy at first observation. Among the genotypic groups, isolated lateralized overgrowth tends to have a milder evolution, whereas Beckwith-Wiedemann spectrum predisposes to a more severe outcome, especially if associated with paternal chromosome 11 uniparental disomy genotype.

Assuntos

RESUMO

Beckwith-Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CDKN1C sequencing. We present a newborn with placentomegaly, hyperinsulinism and adrenal cytomegaly, but no typical external features of BWS. The patient had normal genetic studies in blood. However, adrenal and liver tissues showed hypermethylation of IC1 and hypomethylation of IC2. Microsatellite analysis confirmed mosaic paternal uniparental disomy. This study demonstrates the importance of analyzing additional tissues to reduce underdiagnosis of somatic mosaicism in BWS.

RESUMO

El síndrome de Beckwith-Wiedemann es caracterizado por presentar onfalocele, macroglosia, visceromegalias e hipoglucemia neonatal además de una gran diversidad de anomalías clínicas y de laboratorio. Esta enfermedad también se conoce como síndrome de onfalocele, macroglosia y gigantismo. Los problemas más significativos relacionados con la anestesia son hipoglicemia y macroglosia. Es imperativo realizar una evaluación preanestésica que incluya el sistema cardiovascular, sistema urinario, así como la vía aérea. Los niños con este síndrome pueden requerir diferentes procedimientos quirúrgicos. Se debe pronosticar un abordaje difícil de la vía respiratoria debido al crecimiento de la lengua que puede causar dificultad durante la ventilación y/o intubación endotraqueal. S debe monitorizar la glicemia perioperatoria para evitar secuelas neurológicas secundarias a hipoglicemia no diagnosticada. Se reporta el tratamiento perianestesiológico de un niño de cuatro años de edad con síndrome de Beckwith-Wiedemann que requirió tratamiento quirúrgico de un tumor de Wilms. Después de una evaluación minuciosa, se realizó intubación orotraqueal con un tubo 5.0 el cual se introdujo con facilidad bajo inducción con ketamina-vecuronio. La anestesia se mantuvo sin incidentes con isoflurano y fentanilo(AU)

Beckwith-Wiedemann syndrome is characterized by omphalocele, macroglossia, visceromegaly and neonatal hypoglycaemia, as well as a great diversity of clinical and laboratory abnormalities. This disease is also known as omphalocele, macroglossia and gigantism syndrome. The most significant problems related to anesthesia are hypoglycemia and macroglossia. It is imperative to perform a pre-anesthetic evaluation that includes the cardiovascular system, the urinary system, as well as the airway. Children with this syndrome may require different surgical procedures. A difficult approach to the airway should be predicted due to the growth of the tongue which can cause difficulty during ventilation and/or endotracheal intubation. Perioperative glycemia should be monitored in order to avoid neurological sequelae secondary to undiagnosed hypoglycemia. We report the perianesthesiological treatment of a four-year-old boy with Beckwith-Wiedemann syndrome who required surgical treatment for Wilms' tumor. After a thorough evaluation, orotracheal intubation was performed with a 5.0 tube, which was easily introduced with ketamine-vecuronium induction. Anesthesia was maintained without incident with isoflurane and fentanyl(AU)

Assuntos

RESUMO

The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum includes pre- and postnatal macrosomia, macroglossia, pinna abnormalities, abdominal wall defects, visceromegaly, and hyperinsulinemic hypoglycemia. This syndrome predisposes to childhood cancer and is caused by diverse genetic and/or epigenetic disorders that usually affect the regulation of genes imprinted on chromosome 11p15.5. The knowledge of (epi) genotype-phenotype correlations has prompted recommendations to propose different health care strategies, including tumor surveillance protocols based on molecular classification, aimed at standardizing clinical practice. The objective of this article is to describe the current status of the Beckwith-Wiedemann syndrome, a model of genomic imprinting.

El síndrome de Beckwith-Wiedemann es la entidad genética de sobrecrecimiento más común, con una incidencia aproximada de 1 en 10 000-13 700 nacimientos. Presenta un amplio espectro clínico, que incluye macrosomía pre- y posnatal, macroglosia, alteraciones en el pabellón auricular, defectos en la pared abdominal, visceromegalia e hipoglucemia por hiperinsulinemia. Es un síndrome de predisposición a cáncer en la infancia, causado por una variedad de alteraciones genéticas y/o epigenéticas que suelen afectar la regulación de los genes impresos en 11p15.5. Conocer las correlaciones (epi) genotipo/fenotipo ha impulsado recomendaciones para plantear las diferentes estrategias de atención, entre ellas, los protocolos de vigilancia de tumores basados en la clasificación molecular, con la finalidad de estandarizar la práctica clínica. El objetivo del presente artículo es mostrar el estado actual del síndrome de Beckwith-Wiedemann, un ejemplo de impronta genómica.

Assuntos

RESUMO

El síndrome de Beckwith-Wiedemann es una enfermedad congénita, poco frecuente, caracterizada por presentar macroglosia, defectos de la pared abdominal, hemihipertrofia, onfalocele, hipoglucemia neonatal, hernia umbilical, hepatomegalia, anomalías cardíacas, entre otros. La macroglosia se presenta en el 90% de los casos y genera problemas en la masticación, deglución, fonación y respiración, que ocasionan un cierre de la vía aérea superior. La opción terapéutica de elección es la glosectomía parcial. Se presenta a un paciente pediátrico de dos meses de nacido, con síndrome de Beckwith-Wiedemann y obstrucción de la vía aérea por macroglosia grave. En los antecedentes médicos, se reportaron cardiopatías congénitas, comunicación interauricular, conducto arterioso persistente, epilepsia sintomática, falla renal, hipoglicemia, traqueotomía y gastrostomía por el colapso de la vía aérea y disfagia. Se realizó la técnica quirúrgica de glosectomía de reducción anterior, con resultados favorables.

Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia. It was performed an anterior tongue reduction surgery as a surgical treatment with favorable results.

Assuntos

RESUMO

Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia. It was performed an anterior tongue reduction surgery as a surgical treatment with favorable results.

El síndrome de Beckwith-Wiedemann es una enfermedad congénita, poco frecuente, caracterizada por presentar macroglosia, defectos de la pared abdominal, hemihipertrofia, onfalocele, hipoglucemia neonatal, hernia umbilical, hepatomegalia, anomalías cardíacas, entre otros. La macroglosia se presenta en el 90% de los casos y genera problemas en la masticación, deglución, fonación y respiración, que ocasionan un cierre de la vía aérea superior. La opción terapéutica de elección es la glosectomía parcial. Se presenta a un paciente pediátrico de dos meses de nacido, con síndrome de Beckwith-Wiedemann y obstrucción de la vía aérea por macroglosia grave. En los antecedentes médicos, se reportaron cardiopatías congénitas, comunicación interauricular, conducto arterioso persistente, epilepsia sintomática, falla renal, hipoglicemia, traqueotomía y gastrostomía por el colapso de la vía aérea y disfagia. Se realizó la técnica quirúrgica de glosectomía de reducción anterior, con resultados favorables.

Assuntos

RESUMO

Beckwith-Wiedemann syndrome is a genetic syndrome characterized by macroglossia, omphalocele, fetal gigantism and neonatal hypoglycemia. The authors report a case of Beckwith-Wiedemann syndrome diagnosed in a 32-year-old primigravida in whom two-dimensional ultrasonography revealed the presence of abdominal wall cyst, macroglossia and polycystic kidneys. Three-dimensional ultrasonography in rendering mode was of great importance to confirm the previous two-dimensional ultrasonography findings.

Assuntos

RESUMO

Introducción. El síndrome de Beckwith-Wiedemann presenta una frecuencia de 1:13,700 recién nacidos. Se caracteriza por una triada clásica de macrosomía, macroglosia y defectos de la pared abdominal. Es originado por la alteración de diversos mecanismos genéticos y epigenéticos en la expresión de varios genes improntados en el locus 11p15. Métodos. En este estudio se analizó el perfil clínico de una cohorte de pacientes con síndrome de Beckwith-Wiedemann atendidos en el Hospital Infantil de México Federico Gómez en los últimos 6 años. Se analizaron 19 pacientes con criterios clínicos para síndrome de Beckwith-Wiedemann. Resultados. Algunas de las características clínicas identificadas fueron prematurez (33%), nevus flameus (47%), macroglosia (89%), hipoplasia media facial (68%), hemihiperplasia (36.8%) y defectos de pared abdominal (68%). No se diagnosticaron tumores embrionarios ni cardiopatías. Se identificó un caso familiar. Conclusiones. La vigilancia de los pacientes con síndrome de Beckwith-Wiedemann debe ser estrecha, un compromiso de la familia y del equipo médico tratante. Para poder otorgar un asesoramiento genético integral, idealmente se debe contar con un diagnóstico molecular dada la heterogeneidad en la etiología del síndrome de Beckwith-Wiedemann.

Background. Beckwith-Wiedemann syndrome (BWS) (OMIM 130650) has an incidence of 1:13,700 newborns. Patients characteristically suffer from overgrowth, macroglossia and abdominal wall defects. BWS has diverse etiologies with several genetic and epigenetic mechanisms related to imprinted gene expression in 11p15 being involved. Methods. The clinical profile of a cohort of BWS patients who were treated at the Hospital Infantil de Mexico Federico Gomez during the last 6 years was analyzed. A total of 19 patients with diagnostic criteria for BWS were included. Results. Among the clinical characteristics identified in this study were preterm birth (33%), nevus flameus (47%), macroglossia (89%), medial facial hypoplasia (68%), hemihyperplasia (36.8%) and abdominal wall defects (68%). No embryonic tumor or cardiopathies were identified. A familiar case was described. Conclusions. Clinical follow-up of BWS patients should be strict and include the participation of the medical team and the patient's family. In order to offer genetic counseling, molecular diagnosis should ideally be provided due to the heterogeneity of the etiology of BWS.

RESUMO

El síndrome de Beckwith-Wiedemann (SBW) es un extraño síndrome congénito caracterizado por macroglosia, defecto de la pared abdominal, macrosomía y visceromegalias. Éste se ha asociado a mayor riesgo de desarrollar tumores embrionarios e hipoglicemia. El SBW es causado por una alteración en la regulación de la impronta genómica. Su diagnóstico definitivo se realiza usualmente en la etapa postnatal, sin embargo, actualmente es posible detectar este síndrome en la etapa prenatal mediante estudios bioquímicos, genéticos y ultrasonográficos que revelan los hallazgos característicos de este síndrome. Se describe un caso en el cual se hizo el diagnóstico del SBW durante la gestación, al evidenciar en el segundo trimestre onfalocele y en el tercer trimestre macroglosia y macrosomía. Esto permitió un adecuado asesoramiento prenatal a los padres, la planificación del nacimiento, los cuidados neonatales necesarios y la resolución oportuna de las complicaciones. A los 6 meses de edad la niña presentó un neurofibrosarcoma en la escápula derecha que también fue resuelto oportunamente. El estudio ecográfico perinatal practicado durante el primer y segundo trimestre del embarazo detecta las alteraciones que hacen posible el diagnóstico antenatal del SBW, lo cual permite brindar la adecuada atención maternofetal y neonatal, para obtener un mejor resultado perinatal con mínima afectación del desarrollo normal.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by macroglossia, abdominal wall defect, macrosomia and organomegaly, which has been associated with increased risk of embryonal tumors and hypoglycemia. BWS is caused by an alteration in the regulation of genomic imprinting. The definitive diagnosis is usually made in the postnatal period; however, it can now be diagnosed in the prenatal stage through biochemical, genetic and ultrasound tests that detect the characteristic features of this syndrome. A case in which a SBW diagnosis was made during pregnancy is being described, after observing omphalocele in the second quarter of pregnancy, and macroglossia and macrosomia in the third quarter. This allowed adequate prenatal counseling to parents, planning of birth and of the required neonatal care, as well as timely resolution of complications. At 6 months of age the child presented a neurofibrosarcoma in the right scapula which was also promptly resolved. Perinatal ultrasound performed during the first and second trimester can detect changes that make possible prenatal diagnosis of BWS and, consequently, an adequate maternal-fetal and neonatal care for a better perinatal outcome with minimal involvement of normal development.

RESUMO

El síndrome de Beckwith-Wiedemann (SBW) es un desorden esporádico o heredado, infrecuente, que se caracteriza por peso elevado al nacimiento, macroglosia, defectos de la pared abdominal y menos frecuentemente hipoglucemia, hemihipertrofia y visceromegalia. Se presenta un paciente de sexo femenino de un mes de vida con antecedentes de nefromegalia evidenciada por ecografía prenatal con múltiples hemangiomas en tronco y labio superior. Al examen físico se evidenció notable macroglosia, hemihipertrofia con compromiso de genitales externos, onfalocele y percentilo de peso mayor a 90. El laboratorio demostró alfa fetoproteína de 608ng/ml. Se realizó diagnóstico de síndrome de Beckwith Wiedemann. El paciente evolucionó con aumento del número y tamaño de las lesiones hemangiomatosas, descenso de los niveles de alfa fetoproteína y su maduración psicomotriz fue adecuada a su edad. Presentamos un síndrome infrecuente en un paciente con hemangiomatosis neonatal benigna (HNB), asociación no descripta previamente en la literatura. Destacamos la importancia del examen físico en la consulta dermatológica como oportunidad diagnóstica.

Beckwith-Wiedemann’s syndrome is a sporadic or hereditary rare disor-der characterized by macroglosia, omphalocele, visceromegalia, hypo-glycemia and hemihypertrophy.We report the case of a 1 month-old infant with a history of nephromegalia detected by prenatal ultrasound scan, who presented various generalized hemangiomas.On examination she had macroglosia, hemihypertrophy, omphalocele and high body weight. She also had alpha feto protein 608 ng/ml withno further abnormalities, leading us to diagnose Beckwith-Wiedemann ́s syndrome.The interest of this case is to report an infrecuent syndrome in a patient with diagnosis of neonatal hemangiomatosis. This association has not been previously reported in the literature. We wish to emphasize the importance of a thorough physical exam as part of the dermatologic consultation leading to the correct diagnosis.

Assuntos

RESUMO

BACKGROUND: Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors. In such subjects, kidney size is typically larger than that of age-matched normal controls. OBJECTIVE: The purpose of our study was to generate a nomogram that could be used to measure renal dimensions in children with Beckwith-Wiedemann syndrome in a clinical setting. MATERIALS & METHODS: All of the Beckwith-Wiedemann syndrome patients followed at our institution from 1996 to 2004 were eligible for inclusion in our study. Renal length was measured with a curvilinear transducer and with the patient supine. Renal lengths were measured for both kidneys using real-time ultrasound for all patients. Their data were compared with those of age-matched controls reported in the 1984 study by Rosenbaum et al. RESULTS: Ninety-six children with Beckwith-Wiedemann syndrome were followed from 1996 to 2004. Forty-three of these patients met our criteria for inclusion in the study: 28 girls (65 percent) and 15 boys (35 percent). We identified a linear relationship between kidney length and patient age. No statistically significant differences in renal length were found between boys and girls (p=0.2153) or between the kidneys on either side of the body (p=0.9613). CONCLUSION: Our study provides a practical, simple renal growth chart that offers a reasonable, sensitive method for evaluating kidney size in children with Beckwith-Wiedemann syndrome.

Assuntos

RESUMO

Objetivo: Reportar el caso clínico de un recién nacido con Síndrome de Beckwith-Wiedemann, patología poco frecuente asociada a hipoglicemia, cuya incidencia es de 1 en 14.000 nacimientos. Caso clínico: Recién nacido masculino de termino, con peso de 3000 grs y talla de 47,5 cm, adecuados para su edad gestacional, quien ingresó a la unidad de cuidados intermedios neonatales por depresión neonatal moderada, onfalocele, riesgo de infección neonatal por ruptura prematura de membranas ovulares de 56 horas de evolución e infección urinaria materna activa. Se realizó corrección de onfalocele el mismo día del nacimiento y ante el hallazgo clínico concomitante de macroglosia se plantea el diagnóstico de Síndrome de Beckwith-Wiedemann. Al quinto día de vida presentó hipoglicemias severas, menores de 25 mg/dL, gases arteriales y electrolitos séricos normales, niveles variables de insulina, hematología completa y otros criterios compatibles con sepsis neonatal. Perfil tiroideo y cortisol sérico normales. Ultrasonido abdominal reportó hepatomegalia a expensas de lóbulo izquierdo. Se inició tratamiento con aporte EV de dextrosa entre 6,4 a 8 mg/kg/min, persistiendo con hipoglicemias, por lo cual se adicionó hidrocortisona a una dosis de 7,5 mg/ kg/día, mejorando el control glicémico. A los 26 días aparece hernia inguinoescrotal izquierda, corrigiéndose quir˙rgicamente. Al lograr estabilización en niveles de glicemia se decide alta con hidrocortisona vía oral a 3,5 mg/kg/día. Es valorado por genética quienes confirman el diagnóstico. Actualmente tiene 6 meses de edad, se ha mantenido euglicémico, entre 70 y 90 mg/dL, y resto de la paraclínica normal. Se indicó esquema de retirada de glucocorticoides con control diario de glicemia capilar, para vigilar episodios de hipoglicemias. Conclusiónes: El Síndrome de Beckwith-Wiedemann suele identificarse al nacer por la presencia de macrosomía, macroglosia y defectos de la pared abdominal. Cerca del 50% de los niños pueden presentar hipoglicemia hiperinsulinémica, moderada y transitoria, así como desarrollar procesos neoplásicos a mediano y largo plazo. El tratamiento eficaz de la hipoglicemia previene el retraso psicomotor.

Objective: to report a clinical case of a new born with the Beckwith-Wiedmann syndrome, which is a rare pathology (1 out of 14,000 births) associated with hypoglycemia. Clinical case: A male newborn of full term, with a birth weight of 3000 gr and a size of 47.5 cm, appropriate for his gestational stage, who was admitted to the neonatal care unit with moderate neonatal depression, onfalocele and at risk of infection due to premature rupture of the ovular membranes of 56 hour of evolution and an active urinary track infection of the mother. The correction of the onfalocele was made the same day of his birth, and according with the clinical finding of macroglosia, the Beckwith-Wiedmann syndrome was established. At the fifth day of life he presented severe hypoglycemia, with levels of glycemia below of 25 mg/dL, variable levels of insulin, complete hematology and other parameters compatible with neonatal sepsis; arterial gases, plasmatic electrolytes, thyroid hormones and plasmatic cortisol levels were normal. Abdominal ultrasound showed hepatomegaly mostly on the left lobe. Treatment was started with an IV solution of dextrose between 6.4 to 8 mg/kg/min, with persistent hypoglycemia; at this point hydrocortisone was added at a dose of 7.5mg/kg/day, improving the glycemia levels. After 26 days of his birth, an inguinoescrotal hernia to the left was found which was removed surgically. After achieving normal glycemia levels we decided the patient should be released with treatment with hydrocortisone at a dose of 3.5 mg/kg/day. He was evaluated by genetics who confirmed the original diagnostic. At present, he is six months old, has maintained normal glycemia with levels between 70 and 90 mg/dL, and the rest of the clinical and laboratory parameters are normal. We indicated the progressive suspension of the glucocorticoids with daily control of capillary glycemia, to check possible episodes of hypoglycemia. Conclusions: Beckwith-Wiedmann syndrome is usually identified at birth due to the presence of macrosomia, macroglosia and defects of the abdominal linings. Close to 50% of the infants can present transitory and moderate hypoglycemia with hyperinsulinism, and also can develop neoplastic tumors in middle and long terms. The adequate treatment of hypoglycemia can prevent definitive damage of the psychomotor system.