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Cazuri clinice Jurnalul de Chirurgie, Iaşi, 2011, Vol. 7, Nr. 1 [ISSN 1584 – 9341] BECKWITH-WIEDEMANN SYNDROME WITH CLEFT PALATE S. Dey 1 , B. Kharga 1 , B. Dhar 2 , V.K. Singh 1 , R. Dey 3 1. Department of Surgery, Sikkim Manipal Institute of Medical Sciences, India. 2. Department of Surgery, The Mission Hospital, Durgapur, West Bengal, India. 3. Department of Physiology, Sikkim Manipal Institute of Medical Sciences, India. BECKWITH-WIEDEMANN SYNDROME WITH CLEFT PALATE (ABSTRACT): Beckwith- Wiedemann syndrome is a rare congenital disorder. Early diagnosis, proper counselling of parents is essential because of significant risk of subsequent development of malignant tumours, associated with this syndrome. Association of cleft palate in this syndrome is extremely rare. Specific difficulties and risks posed by the craniofacial abnormalities like macroglossia and cleft palate are highlighted and discussed along with the management options. The literature is reviewed and discussed. KEY WORDS: BECKWITH-WIEDEMANN SYNDROME, CLEFT PALATE, OMPHALOCELE Correspondence to: Dr. Subhajeet Dey. MBBS, MS. Department of Surgery, Sikkim Manipal Institute of Medical Sciences. 5 th Mile, Tadong, Gangtok-737102. Sikkim. India. Phone-00913592271060. 00919434755078. Email: subhajeetd@gmail.com * . INTRODUCTION Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease of low prevalence independently recognised by Beckwith in 1963 and Wiedemann in 1964. Association of this syndrome with cleft palate is even rarer. Surgical corrections of the craniofacial abnormalities pose significant and specific challenges. CASE REPORT A term, large for gestational age female baby was born to 29 years old primi, which had undergone antenatal checkups outside and was referred to this hospital for non progress of labour, through Caesarian section on 04/09/2007. The baby weighed 4500 grams (>95 th centile), with head circumference of 36 cm. (>75 th centile) and length of 55 cm. (>95 th centile). The APGAR score was 5 at 1 minute and 10 at 5 minutes. The notable congenital anomalies were omphalocele with intact sac, macroglossia with protruding tongue (Fig. 1), short neck and linear indentations of ear lobule with posterior helical pits (Fig. 2), nevus flammeus and cleft palate (Fig. 3). The baby had an episode of generalized tonic clonic convulsion; blood sugar estimated at that time was 45 mg%. Euglycemia was attained and subsequently maintained by intravenous dextrose infusion. A clinical diagnosis of Beckwith-Wiedmann syndrome was made on the basis of these clinical features. Omphalocele was dressed with sterile vaseline gauze and pads and baby started on parenteral antibiotics, put on IV fluid and nasogastic decompression. The baby passed meconium within 24 hours of birth. * received date: 10.08.2010 accepted date: 19.12.2010 101
Cazuri clinice Jurnalul de Chirurgie, Iaşi, 2011, Vol. 7, Nr. 1 [ISSN 1584 – 9341] Subsequent investigations included haematology, renal function tests, serum electrolytes including calcium, liver function tests, CRP, blood culture and all were within normal limits. Ultrasonography of whole abdomen, CT scan of cranium and brain and echocardiography did not reveal any abnormality. Fig. 2 Indentations of ear lobule with posterior helical pits Fig. 1 Omphalocele with macroglossia Parents did not have any feature of the syndrome. Both the parents were counselled and educated about the syndrome, regarding hypoglycaemia with possible risks of neurological consequences and its prevention, subsequent risk of tumours of solid organs. They were also counselled regarding the small risk during the subsequent pregnancies. The child underwent a successful primary fascial repair of the omphalocele under general anaesthesia with endotracheal intubation and intraoperative plasma glucose monitoring, two days after admission. 102 Fig. 3 Cleft palate
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