Congenital pyloric atresia with epidermolysis bul­losa is recognized as a rare but distinct entity which is uniformly fatal1,2. Until 1990 only 20 cases have been reported in the English literature3,4. We present an additional case managed at the Aga Khan University Hospital to demonstrate the difficulties encountered in the management of such infants

Attar, Zeba Batool

Moazam, Farhat

Nazir, Zafar

English

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eCommons@AKUSection of Paediatric Surgery Department of SurgeryJanuary 1991Congenital pyloric atresia and epidermolysisbullosaZafar NazirAga Khan University, zafar.nazir@aku.eduZeba B. AttarFarhat MoazamFollow this and additional works at: https://ecommons.aku.edu/pakistan_fhs_mc_surg_paediatrPart of the Pediatrics CommonsRecommended CitationNazir, Z., Attar, Z., Moazam, F. (1991). Congenital pyloric atresia and epidermolysis bullosa. Journal of the Pakistan Medical Association,41(10), 254-256.Available at: https://ecommons.aku.edu/pakistan_fhs_mc_surg_paediatr/22CONGENITAL PYLORIC ATRESIA AND EPIDERMOLYSISBULLOSAPages with reference to book, From 254 To 256 Zafar Mazir, Zeba B. Attar, Farhat Moazam  ( Department of Surgery, The Aga Khan University, Karachi. ) INTRODUCTION Congenital pyloric atresia with epidermolysis bullosa is recognized as a rare but distinct entity which isuniformly fatal1,2. Until 1990 only 20 cases have been reported in the English literature3,4. We presentan additional case managed at the Aga Khan University Hospital to demonstrate the difficultiesencountered in the management of such infants.CASE PRESENTATION SBS, a 1700 gin male was the product of a full term pregnancy in a 29 year old healthy woman. Thepregnancy was complicated by polyhydramnios but was otherwise uneventful. The parents were notblood relatives, but the paternal grand mother and maternal grand father were first cousins. Fivesiblings, all females, were normal and the family history was unremarkable. Soon after birth, the babydeveloped vomiting, respiratory distress and was transferred to the Aga Khan University Hospital. Onadmission the baby was moderately dehydrated and tachypneic. The abdomen was fiat and non-tender.Bullous lesions were noted on both upper lips. A radiograph of the abdomen revealed gas in thestomach in an otherwise gasless abdomen (Figure 1).A limited barium meal confirmed complete gastric outlet obstruction (Figure 2),an exploratory laparotomy confirmed pyloric atresia and a gastrojejunostomy and feeding jejunostomywere performed. Post-operatively, fresh crops of blisters continued to appear notably on the skin of thelimbs, lumbosacral region and on areas where adhesive tape was applied. A skin biopsy sent for routinemicroscopy was consistent with the diagnosis of epicfermolysis bullosa (Figure 3).The infant continued to deteriorate with worsening of the blisters, and subsequent bacterial and fungalsepsis compounded by malnutrition due to: feeding difficulties and plasma losses from the blisters. Hedied of progressive sepsis and disseminated intravascular coagulation (DIC) at 2 months of age.DISCUSSION The association of congenital pyloric atresia and epictermolysis bullose although rare, occurs oftenenough to have been recognized as a "syndrome"1-4. Congenital gastrointestinal atresias occur in one in10,000 births, with pyloric atresia constituting only 1% of all reported cases1,4,5. Pyloric atresia mayconsist of a mucosal diaphragm, a solid cord or a thin fibrous membrane and is thought to be the resultof mechanical or vascular injury to the fetal intestine. A familial occurrence is reported and anautosomal recessive transmission has been suspected1,4,6,7. A gastroduodenostomy or agastrojejunostomy is usually advocatedfor management6. Epidermolysis bullosa forms a heterogenousgroup of inherited disorders, characterized by extreme fragility of the skin and bullae formation8. Theprevalence of the recessive varieties has been cited to be 1:45,009. The condition is classified into threemajor groups, simplex, junctional and dystrophic, based on the electron microscopic picture8. Thejunctional and dystrophic varieties are severe and almost always lethal. In addition to the cutaneousmanifestations, there can be involvement of the oral and oesophageal mucosa and the genitourinary andrespiratory tracts. The bullae heal with or without scarring. Severe growth retardation secondary tomalnutrition and infection usually cause death in infancy. At present there is no successful treatment forepidermolysis bullose, although Phenytoin is reported to be useful10. The simultaneous occurrence ofthe two conditions is interesting. Although some have speculated that the pyloric atresia may besecondary to the mucosal lesions of epidermolysis bullosa, most believe that the two entities areassociated in an autosomal recessive syndrome, caused by the homogenous state of a single mutantpleiotropic gene3,5. The consanguinity of the grandparents of our patient is consistent with anautosomal recessive inheritance. The association of junctional and dystrophic variants of epidermolysisbullosa and congenital pyloric atresia is lethal, with only one child reported to have survived until 11months of age5. As demonstrated in our case and also reported in English literature, the surgicalcorrection of the associated pyloric atresia does not appear to influence the overall survival. We believethat the treatment of this disorder should be symptomatic and supportive only. Nutritional support usingtotal parenteral nutrition has been advised but in countries like Pakistan such a facility is expensive andavailable to only a small percentage of the population5,11. A feeding j ejunostomy may provide analternative route for nutrition and allow early discharge of the patient. Although a prenatal diagnosis ispossible by electron microscopic examination of a fetal skin biopsy taken as early as 18 weeks ofgestation, 12,13 but this procedure is not available in Pakistan. Prevention therefore must be sought bymeans of genetic counselling as the parents of a child with pyloric atresia epidermolysis bullosasyndrome have a 1:4 risk of recurrence in subsequent off-springs4,5,7. The presence of epidermolysisbullosa in new born infant should alert the pediatrician to the possibility of a co-existing pyloric atresia.ACKNOWLEDGEMENT We wish to thank Dr. Hizabullah Sheikh, Department of Pathology, The Aga Khan University forproviding the pathological material for this case.REFERENCES 1. cook, R.M.c. Gastric outlet obstruction, in neonatal aurgery. Edited by Liater, 3. and Irving, I.M.London, Butterworth, 1990, p.403.2. Levnidea, J.C and Berdon, W.E. The gattrointeatinal tract, in essential of Caffey's pediatric x-raydiagnosis. Edited by Silverman, F.N. and Kuhn, J.P. chicago, Year Book,1990, p.1030.3. lahigamit, etal. A caseofpyloricatreaiaaasociatedwith junctionalepidermolysis bulloaa. Eur. 3.Pediatr., 1990; 140: 306.4. More, C.CM. Congenital pyloricoutlet obstruction. J. Pediatr. Surg., 1989; 24: 1241.5. Rosenbloom, MS. and Ratner, M. Congenital pyloric stresia and epidermolysis bullosa legalis inpremature siblings.). Pediatr. Surg., 1987; 22:374.6. Campbell, R.J. Other conditions of atomach, in pediatricaurgecy. Edited by K.Jl-l Welch et al. 4th-ed. Chicago, Year Book, 1986, p.821.7. EI-Shafie, M., Stidham, O.L, Kippel, C.H., Katzman, G.H. and Weinfeld, I.J. Pyloric atresia andepidermolysis bulloss letalis; a lethal combination in twopremature newborn siblings.). Pediatr. Surg.,1979; 14: 446.8. Lin, AN. and Carter, D.M. Epidermolysis bullosa; when the skin falls apart.). Pediatr.,1989; 114:349.9. Schacbner, LA and Hansen, R.C. ed. Pediatric dermatology. Edinburgh, Churchill Livingstone, 1988,p.775.10. Margileth, AM. Dermatologic conditions, in neonatology pathophysiology and management of thenew born. Edited by C.B. 2nd ed. Philadelphia, Lippincott, 1987, p. 1230.11. Moazam, F. and Lakhani, M. Ethical dilemmas of health care in the developingnstion. 3. Pediatr.Surg., 1990; 25: 43&12. Hanuser, I., Lamprecht, l.A and Gustavii, B. Prenatal diagnosis for junctional epidermolysia bullosahertliz type. Lsncet, 1989; 2: 1035.13. Eddy, R.A.J., Schofield, O.M.V., Nicolaides, K.H. et at Prenatal diagnosis of epidermolysis bullosa.Lancet, 1989; 2: 1453.

Congenital pyloric atresia and epidermolysis bullosa

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Congenital pyloric atresia and epidermolysis bullosa

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