Gönül PARMAKSIZ, Hamza KARABİBER, Mesut GARİPARDIÇ

Beckwith-Wiedemann sendromu: Vaka sunumu

Beckwith-Wiedemann Sendromu (BWS) organomegali, makroglossi, makrozomi, hipoglisemi, omfalosel veya umbilikal herninin eşlik ettiği, nadir görülen konjenital bir sendromdur. BWS tanısı konulan bir hasta sunulmaktadır. Vaka: 9 günlük kız hasta morarma ve sık nefes alma yakınması ile getirildi. Öyküsünden 35 haftalık doğduğu, polihidramnios, plasentanın büyük ve göbek kordonunun yaklaşık 10 cm çapında olduğu öğrenildi. Fizik muayenede makrozomi, makroglossi, organomegali ve pansistolik üfürüm saptandı. Laboratuar incelemede hiperinsülinemik hipoglisemi ve alfa fetoprotein yüksekliği belirlendi. Yenidoğan döneminde tedaviye dirençli hipogliseminin ayırıcı tanısında BWS'nun gözönünde bulundurulması gerekmektedir.

Anahtar Kelimeler:

Beckwith-Wiedemann sendromu, Doğumsal, kalıtsal ve yenidoğan hastalıkları ve anormallikleri, Hipoglisemi, Süt çocuğu, yenidoğan, hastalıklar, Kadın

Beckwith-Wiedemann syndrome: A case report

Beckwith-Wiedemann Syndrome (BWS) is a rare congeni-tal syndrome manifested by organomegaly, macrosomia, macroglossia, hypoglycemia, omphalocele or umbilical hernia. A patient with BWS, is presented. Case: A 9-day-old girl presented with cyanosis and tachypnea. The baby was born at 35 weeks of gestation and had an enlarged placenta, polyhydramnios and the diame-ter of umbilical cord was approximately 10 cm. Macrosomia, macroglossia, pansystolic murmur and organomegaly were determined on physical examination. Laboratory data revealed hyperinsulinemic hypoglycemia and increased alpha-fetoprotein levels. BWS should be considered in the differential diagnosis of resistant hypoglycemia in the neonatal period.

Keywords:

Beckwith-Wiedemann Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypoglycemia, Infant, Newborn, Diseases, Female,

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