INDIAN PEDIATRICS 61 VOLUME 43 __ JANUARY 17, 2006 Case Reports Carmi Syndrome Complicated by Pharyngo-Esophageal Perforation weighing 2.210 kg, born to G6P4 mother through normal vaginal delivery at home at 32-week gestation, was referred to us with complaints of non-bilious vomiting since birth. The parents were first cousins and had three normal siblings before her. Detailed family history revealed history of skin lesions and infantile deaths. Three siblings of patient’s mother (out of twelve) and four siblings of patient’s maternal grandmother (out of eighteen) had skin lesions, which developed just after birth and all these infants died in first three months. On examination, she had multiple bullous skin lesions over the lower extremities suggestive of EB. There was bloodstained froth emanating from the mouth, although no mucosal lesions were seen in the mouth. Upper abdomen was mildly distended. Multiple attempts to pass naso-gastric tube failed. Babygram showed coiled feeding tube in chest with a distended gastric bubble; the rest of abdomen was gasless. The upper GI- contrast study that was done elsewhere was suggestive of PEP and CPA (Fig.1). The patient underwent an emergency surgery after initial stabilization. At laparotomy, type II CPA was confirmed. Rest of the gut and other viscera were normal. Excision of atretic pylorus and gastro-duodenostomy was performed. A naso-jejunal tube could be passed across the anastomosis for early feeding. Gastric decompression was achieved by gastrostomy. The post-operative period was stormy. The patient developed multiple new lesions over trunk and extremities over the next two days (Fig. 2). On 3rd postoperative day, patient developed features of overwhelming sepsis and respiratory distress syndrome. Despite a Sarin, Y.K. Nagdeve, N.G. From the Department of Pediatric Surgery, Maulana Azad Medical College, New Delhi110 002, India. Correspondence to: Dr. Y.K. Sarin, Professor & Head, Department of Pediatric Surgery, Maulana Azad Medical College, New Delhi 110 002. E-mail: yksarin@hotmail.com Manuscript received: April 28, 2005; Initial review completed: July 5, 2005; Revision accepted: July 14, 2005. We describe a neonate having congenital pyloric atresia (CPA) associated with epidermolysis bullosa (EB), also known as Carmi syndrome. The case is unusual as it was complicated with pharyngo- esophageal perforation (PEP) and a definite family history of EB in pervious generations could be recorded. Key words: Carmi Syndrome, Congenital pyloric atresia, Epidermolysis bullosa, Pharyngo-esophageal perforation. The association of CPA and EB (Carmi syndrome) was first described by Swinburne and Kolher in 1968(1). The incidences of CPA and EB have been quoted as 1 of 100,000 live births and 1 in 300,000 live births respectively(2,3); the coexistence of CPA and EB is extremely rare. Carmi Syndrome has had a universally fatal outcome previously with only few isolated survivors(3). We report an index case. Case report A 5-day-old, pre-term female neonate