Síndrome de Beckwith-Wiedemann / Beckwith-Wiedemann syndrome

RESUMO

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.

ABSTRACT

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.