Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram

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.

Beckwith-Wiedemann syndrome and isolated hemihyperplasia

CONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome. OBJECTIVES: A clinical and molecular review and proposal of the use of an experimental protocol to provide a practical approach for the physician. DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders. The results have been used at the Faculdade de Medicina de Ribeiräo Preto, Universidade de Säo Paulo, to elucidate the basis of Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and have been applied at the Hospital Universitário of the Faculdade de Medicina. CONCLUSIONS: Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families

Síndrome de Beckwith-Wiedemann / Beckwith-Wiedemann syndrome

E apresentada criança masculina, nascida com 37 semanas de gestação, pesando seis quilos e medindo 57 cm. Na ocasião, apresentava onfalocele acentuada, macroglossia, sulcos anormais nos lóbulos de ambas orelhas, hipoglicemia, hiporreflexia, letargia e dificuldade respiratória. Atualmente, com nove anos e sete meses de idade, apresenta retardo mental moderado, obesidade, diástese dos músculos retos do abdómen, macrossomia das mãos e pés, prognatismo da mandíbula, criptorquidia comprovada ao ultra-som e idade óssea avançada para sua idade, documentada pela radiografia de punho. A presença de hipoglicemia e a macroglossia acentuada ao nascimento, com grave tendência à obstrução de vias aéreas superiores, aliado à presençá de defeitos de graus variados na parede abdominal anterior (onfalocele x hérnia umbilical) induzem ao diagnóstico precipitado de hipotireoidismo congênito. As características relatadas acima agrupam o paciente em uma rara síndrome, descrita em 1964 por Beckwith e Wiedemann. Essa doença tem como principais alterações: gigantismo, visceromegalia, onfalocele, macroglossia, tendência a desenvolver câncer, criptorquidia, dentre outras manifestações.

We report a study of a boy bearer the Beckwith-Wiedemann syndrome. The gestation was of 37 weeks'duration and delivery was by cesarian. His weigh was 6 kg, and his size was 57 cm. The child was noted at birth to have macroglossia, an onphalocele wich was repaired during the first 24 hours of life. He was also noted to be a very big baby, to have a temporary hipoglycernia. Nowadays, he is 9 years old, mild mental discrepancy, somatic gigantism, prognathic mandibular appearence, cryptorchidism was evidencieded by ultra-sound. The hipoglicemy and the macroglossy present at the birth, with a strong tenclency to airway obstruction and with detects in ventral wall (onphalocele X umbilical hernia) induce to the overhasty diagnosis ot congenital hipoglicemy. The Beckwith-Wiedemann syndrome was descrited by Beckwith and by Wiedemann in 1964. They recognized features in commom among children, such as macroglossia, macrossomia, onphalocele, hipoglycemia, hyperplasia of kidneys and pancreas, and gonadal interstitial cell hyperplasia.

Tumor de Wilms bilateral / Bilateral Wilms tumor

Se analizan los resultados de un protocolo propuesto y utilizado desde febrero de 1986 para el tratamiento del tumor de Wilms bilateral y la enucleación del tumor (tumerectomía) como cirugía conservadora inicial. El objetivo fue realizar una cirugía oncológica adecuada y preservar el máximo de parénquima renal funcionante para asegurar un desarrollo normal del niño. La punción con aguja fina previo al tratamiento se efectuó en 5 pacientes y fue diagnóstica en el 100%Se trataron 7 pacientes con 13 unidades renales, se efectuaron 12 tumorectomías, una nefroctomía radical inicial y posteriormente dos más por recidiva local luego de la tumorectomía. La enucleación del tumor o tumorectomía resultó una intervención de fácil ejecución,excepto en dos casos que involucraba el sistema colector. No presentó complicaciones postoperatorias. De los 7 casos tratados con el protocolo propuesto, 6 niños están vivos libres de enfermedad con un seguimiento medio de 31 meses (rango 12-53 meses). Un paciente se encuentra actualmente cumpliendo su quimioterapia. El protocolo propuesto le asegura al paciente la preservación de más parénquima renal funcionante con el mismo riesgo e iguales posibilidades de curación

Síndrome de Beckwith-Wiedemann: uma causa prevenível de deficiência mental; descriçäo de dois casos e revisäo da literatura / Beckwith-Wiedemann syndrome: a preventible cause of mental deficiency; report of 2 cases and review of the literature

Descrevem-se dois casos de síndrome de Beckwith-Wiedemann (síndrome de exonfalos, macroglossia e gigantismo - EMG), discutem a etiopatogenia da deficiência mental associada e revisam a literatura