Sir,
Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterized by macroglossia, exomphalos/diastasis recti, hemi-hypertrophy, uncontrolled hypoglycemia, and tumor predisposition.[1,2] It was first described by Beckwith in 1963 and later substantiated by Wiedemann in 1964.[3,4]
We report a case of 4-day-old neonate posted for exomphalos repair, the child was born at 36 weeks of gestation with a birth weight of 3.6 kg. On evaluation, the baby was diagnosed as BWS with macroglossia, exomphalos, hypertrophy of right lower limb [Figure 1], bilateral renal cysts, and uncontrolled hypoglycemia. There was no family history of a similar disease.
Figure 1.
The baby with macroglossia, omphalocele, hypertrophy of right lower limb (arrow)
The baby was kept in the neonatal Intensive Care Unit (NICU) during which he underwent hypoglycemia correction and various investigations. Cranial ultrasonography was normal while that of abdomen ultrasound demonstrated bilateral renal cysts. Precordial echocardiography showed normal cardia.
At 4th day baby was posted for repair of exomphalos minor, morning blood glucose on day of surgery showed hypoglycemia to the level of 32 mg% for which 20 ml intravenous (IV) glucose bolus in the form of 10% dextrose + 1:100 potassium chloride was administered followed by infusion at 16 ml/h.
After correcting blood glucose, the baby was premedicated with 0.012 mg of glycopyrrolate and fentanyl 1.5 mcg IV. Airway equipment such as size 2.5-3.5 mm size uncuffed endotracheal tubes (ETT), curved and straight laryngoscope blades, oral airways of different sizes, pediatric bougie, pediatric size I-gel, and various face masks were kept ready to handle the anticipated difficult airway.
Nasogastric tube, which was already in place, was suctioned. Preoxygenation was done using a size 1-face mask to accommodate the large tongue. Induction was performed using sevoflurane with 100% oxygen followed by direct laryngoscopy with curved blade and intubation was done with a size 3 uncuffed ETT without difficulty. Muscle relaxation was achieved with atracurium 1.5 mg and no further top-up was required. Anesthesia was maintained with 50% oxygen with air and sevoflurane 1% to maintain a minimum alveolar concentration of 1.0-1.2.
Analgesia was attained with a caudal block with 0.125% bupivacaine 6 ml; intraoperative vitals and blood sugar levels were within the normal limits in the range of 120-140 mg%. Surgical repair of exomphalos was uneventful and procedure was completed within 60 min, neuromuscular block was reversed with neostigmine and extubated after warming the baby, recovery from anesthesia was adequate, and there was no airway obstruction due to macroglossia.
The child was shifted to NICU and oxygen was administered through oxygen tent on the 1st postoperative day. Vital signs remained stable in the postoperative period. Blood glucose was monitored 2 hourly and hypoglycemic episodes were treated with an infusion of 10% dextrose solution at 12 ml/h. For 3 days, the baby did not have any further hypoglycemic episodes after 4th postoperative day.
The babies with BWS frequently require corrective surgical interventions in the neonatal period. Major anesthetic concerns in these infants are difficult airway, uncontrolled hypoglycemia, and cardiac anomalies. The careful preanesthetic evaluation of airway, cardiac, and urinary system is mandatory. Increased intra-abdominal pressure after repair of exomphalos and visceromegaly may shift the diaphragm upward reducing functional residual capacity. These congenital malformations, prematurity, and difficult airway may complicate anesthetic management.[5,6]
Anesthetic management in BWS is complicated by difficult airway, neonatal hypoglycemia, and cardiac anomalies. Awareness about different clinical features of BWS, careful preoperative assessment, and planning will aid in safe anesthetic outcome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Nil.
Conflicts of interest
There are no conflicts of interest.
References
- 1.McCauley RG, Beckwith JB, Elias ER, Faerber EN, Prewitt LH, Jr, Berdon WE. Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndrome. AJR Am J Roentgenol. 1991;157:549–52. doi: 10.2214/ajr.157.3.1872243. [DOI] [PubMed] [Google Scholar]
- 2.Gocmen R, Basaran C, Karcaaltincaba M, Cinar A, Yurdakok M, Akata D, et al. Bilateral hemorrhagic adrenal cysts in an incomplete form of Beckwith-Wiedemann syndrome: MRI and prenatal US findings. Abdom Imaging. 2005;30:786–9. doi: 10.1007/s00261-005-0337-1. [DOI] [PubMed] [Google Scholar]
- 3.Beckwith JB. Vignettes from the history of overgrowth and related syndromes. Am J Med Genet. 1998;79:238–48. [PubMed] [Google Scholar]
- 4.Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010;18:8–14. doi: 10.1038/ejhg.2009.106. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 5.Whizar-Lugo V, Moreno AS, Morales PO, Ramírez AG, Vallarino FA, Domínguez J, et al. Anesthesia for partial glossectomy in a toddler with Beckwith-Wiedemann syndrome. Pediatr Anesth. 2004;14:53–9. [Google Scholar]
- 6.DeBaun MR, King AA, White N. Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol. 2000;24:164–71. doi: 10.1053/sp.2000.6366. [DOI] [PubMed] [Google Scholar]