Abstract:
Beckwith-Wiedemann syndrome (BWS) is a rare genomic imprinting disorder that affects multiple systems. Major features can manifest as large birth weight, anterior abdominal wall defects, macroglossia, hyperinsulinism, organomegaly hemihypertrophy, and renal abnormalities. Characteristic facies manifested as midface hypoplasia, infraorbital creases, facial nevus simplex, and anterior linear ear lobe creases/posterior helical ear pits, with a predisposition to tumor development. This case report describes a Saudi infant born at 38+5 weeks gestation via elective cesarean section to a 33-year-old G3P2+0 mother, with a family history of type 1 diabetes and Down syndrome. Prenatal ultrasound revealed an anterior abdominal wall defect. Postnatally, the infant exhibited macrosomia, macroglossia, and omphalocele. Genetic testing confirmed paternal disomy of the imprinted region in 11p15.5. The infant underwent successful omphalocele repair but experienced respiratory distress, and seizures on the third day of life. Intubation, ventilation, and antiepileptic treatment were initiated. Subsequent investigations revealed right upper lobe collapse, neonatal seizures on electroencephalogram (EEG), and thin corpus callosum on magnetic resonance imaging (MRI). Feeding difficulties led to elective partial glossectomy at two months of age. During her hospital stay two days post surgery, the infant developed persistent hypoglycemia requiring high glucose infusion rates. Extensive endocrine evaluation revealed high insulin and cortisol levels. Subcutaneous octreotide was administered with minimal response. After 15 days of careful glucose tapering, the infant\'s blood glucose stabilized, reaching feeding targets. The patient was discharged with follow-up appointments. This comprehensive case highlights the complexity of managing severe relapsing hypoglycemia in an infant with BWS.
摘要:
Beckwith-Wiedemann综合征(BWS)是一种罕见的基因组印记障碍,影响多个系统。主要特征可以表现为出生体重大,前腹壁缺损,巨舌,高胰岛素血症,器官肿大半肥大,和肾脏异常。特征相表现为面中部发育不全,轨道下折痕,面部单纯性痣,和前线性耳垂折痕/后螺旋耳窝,有肿瘤发展的倾向。该病例报告描述了一位33岁的G3P20母亲通过选择性剖宫产在妊娠38+5周时出生的沙特婴儿,有1型糖尿病和唐氏综合征家族史。产前超声显示前腹壁缺损。出生后,婴儿表现出巨大儿,巨舌,和脐膨出。基因检测证实了11p15.5中印记区域的父系二体。婴儿接受了成功的脐膨出修复,但经历了呼吸窘迫,在生命的第三天癫痫发作。插管,通风,并开始抗癫痫治疗。随后的调查显示右上叶塌陷,脑电图(EEG)上的新生儿癫痫发作,和磁共振成像(MRI)的薄call体。喂养困难导致两个月大的选择性部分舌片切除术。在她手术后两天住院期间,婴儿出现持续性低血糖,需要高葡萄糖输注率.广泛的内分泌评估显示高胰岛素和皮质醇水平。皮下给予奥曲肽反应最小。经过15天的葡萄糖逐渐减少,婴儿的血糖稳定,达到喂养目标。患者出院并接受随访预约。这个全面的案例强调了BWS婴儿严重复发性低血糖管理的复杂性。