Congenital Pyloric Atresia: Report of a Familial Occurrence By L. Olsen and G. Grotte
B
ILE-STAINED VOMITUS in a newborn child should always be regarded as an indication of intestinal obstruction. The abscence of bile staining of the vomitus is, on the other hand, often interpreted as an indication that obstruction is not present and therefore another explanation for the vomiting should be sought.’ Another surgically correctable lesion, pyloric atresia, may however be present. This congenital malformation represents only about 1% of all intestinal atresias.2 According to Janneck and v. Ekesparre,3 the first publication of the anomaly was that by Calder in 1749 and the first successful operation was described by Touroff and Sussman in 1940. At the beginning of 1974 at least 59 cases had been recorded.4 No cases have been described in the Scandinavian literature as far as is known to the authors. Familial occurrence has been reported five times in six families.5-9 This paper adds another instance of familial pyloric atresia. CASE
REPORTS
Case 1 The patient, a girl, was born on July 14, 1972 as the first child of a 26-yr-old, healthy woman, whose pregnancy was normal apart from polyhydramnios. There were no hereditary diseases. The child was full-term at birth, but weighed only 2470 g. Apgar score of 6 was noted I min after birth. She had several aspirations during the first day of life and developed atelectasis and pulmonary infiltrations as shown on x-ray. She was brought in from another hospital because of hyperbilirubinaemia. Exchange transfusion was performed. Because of difficulties with feeding and increased salivation a plain x-ray was taken showing only a small amount of gas in the upper part of the abdomen. Malrotation was ruled out with a Gastrografin enema. At operation on the third day of life an atresia in the pyloric region was found and a gastrojejunostomy performed. One nasogastric tube was passed through the anastomosis and another for decompressing the stomach. In the postoperative period there were continued respiratory problems and Ampicillin was given. She was fed through the tube, but supplementary intravenous nutrition was also given. Progressive deterioration continued and the child died on the 23rd day of life of circulatory failure. At autopsy bronchopneumonia and pulmonary atelectasis were found. Culture from the lungs yielded growth of klebsiella pneumoniae. The diagnosis pyloric atresia consisting of a membrane was verified.
Case 2 The second child, a boy, was born on August 9, 1973, I wk after term by a normal delivery, weighing 2510 g. His Apgar score was 6 after I min. In this case because the mother also had polyhydramnios, a pyloric atresia was immediately suspected and verified with x-ray (see Fig. 1).
From the Department of Pediatric Surgery, University Hospital, Uppsala. Sweden. .4ddress for reprint requests: L. Olsen. M.D., Department OJ Pediatric Surgery. pital, S-750 14 Uppsala 14, Sweden. C?1976 hrj Grune & Stratton. Inc. Journal of Pediatric Surgery, Vol. 11, No. 2 (April), 1976
Universily Hos-
181
OLSEN
182
Fig. strating
AND GROTTE
1. Lateral roentgenogram pyloric atresia in Case 2.
demon-
The child was brought in from another hospital and operated upon 1 day after birth. At operation a membrane several millimetres thick was excised and a gastroduodenostomy performed. A nasogastric tube passing through the anastomosis was left in place for several days. There were no postoperative complications. At the age of 19 mo the child is healthy; weight and length are within normal limits. No further children have been born in the family.
DISCUSSION
Pathogenesis The etiology of congenital intestinal atresia is not known. Tandler” suggested a failure of recanalization of the gut after a temporary solid state of epithelial or vasocclusion during embryogenesis, while others ‘i-13 favored a mechanical cular injury to a previously normal fetal intestine as causative factors. According to Bar-Maor et al.,’ there is an indication of an autosomal recessive mode of inheritance. Classification Three different variations of the lesion are represented in earlier reports. The most frequent one seems to be a more or less thin membrane, totally obliterating the lumen. The two other types show an absence of a normal wall in the pylorus which is reduced either to a fibrous cord or a complete segmental defect between the two blind ends of the ventricle and the duodenum (Fig. 2). Diagnosis Usually few days
there is a history of hydramnios during pregnancy. Within of life the patient presents bile-free vomitus, often after
the first the first
CONGENITAL
PYLORIC ATRESIA
Fig. 2.
Varieties
183
of pyloric atresia.
feeding, epigastric distension, and sometimes peristaltic waves from left to right in the upper part of the abdomen. Meconium is passed less than normal or not at all and is free from lanugo hair. There is rapid dehydration with hypochloremic, hypokalemic alkalosis. The differential diagnosis includes a number of conditions which require medical attention rather than surgical such as brain damage, adrenal cortical insufficiency, and maternal narcotic addiction. A solitary air bubble in the stomach on x-ray and no air in other parts of the abdomen suggest the diagnosis pyloric atresia. Treatment The operative treatment consists of immediate decompression of the stomach via a nasogastric tube, which should be left in place. Fluid and electrolyte balance is corrected. A thin membrane can be simply excised or perforated, but there is a great risk of postoperative mucosal swelling, which may cause obstruction. It is therefore advisable in these cases to bypass the anastomosis with a nasogastric tube. Heinecke-Mikulicz or Finney recommend that a pyloroplasty may also be needed, especially if a more thickwalled membrane has been excised. When there is a loss of continuity the method of choice according to most authors’~3*5~6~ 14-16 is a gastroduodenostomy eventually combined with a modified pyloroplasty according to Finney. A gastrojejunostomy might be the only possibility in some rare cases, but then there is the risk of a later appearance of a gastrojejunal ulcer or a blind loop syndrome.
OLSEN
184
AND GROTTE
It is of course important to look for other atresias in the gastrointestinal tract before ending the operation.
SUMMARY
Fifty-nine cases of congenital pyloric atresia have been previously reported. A familial occurrence has been described in thirteen infants in six families. This report adds two cases. REFERENCES I. Kornfield HJ: Pyloric pair. Surgery 51:569, 1962
atresia
and
its re-
2. Gross RE: Surgery of Infancy and Childhood: Its Principles and Techniques, Philadelphia, Saunders, 1961 3. Janneck C, v Ekesparre W: Kongenitale Pylorusatresie. Ein kasuistischer Beitrag. Z Kinderchir 12:345, 1973 4. Szalay GC: Letter: Congenital atresia. Arch Surg 108:248, 1974 5. Thompson al: Congenital
pyloric
NW, Parker W, Schwartz S, et pyloric atresia. Arch Surg 97:
792. 1968 6. Bronsther B, Nadeau MR, Abrams MW: Congenital pyloric atresia: A report of three cases and a review of the literature. Surgery 69:130, 1971 7. Bar-Maor JA, Nissan S, Nevo S: Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission. J Med Genet 9:70, 1972 8. Keramidas
DC, Voyatzis
N: Pyloric
atre-
sia: Report of a second occurence in the same family. J Pediatr Surg 7:445, 1972 9. Tan KL, Murugasu J: Congenital pyloric atresia in siblings. Arch Surg 106: 100, 1973 IO. Tandler J: Zur Entwicklungsgeschichte des menschlichen Duodenum in frtihen embryonal Stadien. Gegenbaurs Morphol Jahrb 29: 187, 1900 11. Nixon HH: Intestinal obstruction in the newborn. Arch Dis Child 30:13, 1955 12. Barnard CN, Louw JH: The genesis of intestinal atresia. Minn Med 39:745, 1956 13. Santulli TV, Blanc WA: Congenital atresia of the intestine: Pathogenesis and treatment. Ann Surg 154:939, 1961 14. Marwege H: Angeborene Pylorusatresieeine seltene Anomalie. Zentralbl Chir 88: 1308, 1963 15. Sailer R, Mtiller E: Die angeborene Pylorusatresie. Z Kinderchir 6:328. 1968 16. Saw EC, Arbegast NR, Comer TP: Pyloric atresia: A case report. Pediatrics 51:574, 1973
B
ILE-STAINED VOMITUS in a newborn child should always be regarded as an indication of intestinal obstruction. The abscence of bile staining of the vomitus is, on the other hand, often interpreted as an indication that obstruction is not present and therefore another explanation for the vomiting should be sought.’ Another surgically correctable lesion, pyloric atresia, may however be present. This congenital malformation represents only about 1% of all intestinal atresias.2 According to Janneck and v. Ekesparre,3 the first publication of the anomaly was that by Calder in 1749 and the first successful operation was described by Touroff and Sussman in 1940. At the beginning of 1974 at least 59 cases had been recorded.4 No cases have been described in the Scandinavian literature as far as is known to the authors. Familial occurrence has been reported five times in six families.5-9 This paper adds another instance of familial pyloric atresia. CASE
REPORTS
Case 1 The patient, a girl, was born on July 14, 1972 as the first child of a 26-yr-old, healthy woman, whose pregnancy was normal apart from polyhydramnios. There were no hereditary diseases. The child was full-term at birth, but weighed only 2470 g. Apgar score of 6 was noted I min after birth. She had several aspirations during the first day of life and developed atelectasis and pulmonary infiltrations as shown on x-ray. She was brought in from another hospital because of hyperbilirubinaemia. Exchange transfusion was performed. Because of difficulties with feeding and increased salivation a plain x-ray was taken showing only a small amount of gas in the upper part of the abdomen. Malrotation was ruled out with a Gastrografin enema. At operation on the third day of life an atresia in the pyloric region was found and a gastrojejunostomy performed. One nasogastric tube was passed through the anastomosis and another for decompressing the stomach. In the postoperative period there were continued respiratory problems and Ampicillin was given. She was fed through the tube, but supplementary intravenous nutrition was also given. Progressive deterioration continued and the child died on the 23rd day of life of circulatory failure. At autopsy bronchopneumonia and pulmonary atelectasis were found. Culture from the lungs yielded growth of klebsiella pneumoniae. The diagnosis pyloric atresia consisting of a membrane was verified.
Case 2 The second child, a boy, was born on August 9, 1973, I wk after term by a normal delivery, weighing 2510 g. His Apgar score was 6 after I min. In this case because the mother also had polyhydramnios, a pyloric atresia was immediately suspected and verified with x-ray (see Fig. 1).
From the Department of Pediatric Surgery, University Hospital, Uppsala. Sweden. .4ddress for reprint requests: L. Olsen. M.D., Department OJ Pediatric Surgery. pital, S-750 14 Uppsala 14, Sweden. C?1976 hrj Grune & Stratton. Inc. Journal of Pediatric Surgery, Vol. 11, No. 2 (April), 1976
Universily Hos-
181
OLSEN
182
Fig. strating
AND GROTTE
1. Lateral roentgenogram pyloric atresia in Case 2.
demon-
The child was brought in from another hospital and operated upon 1 day after birth. At operation a membrane several millimetres thick was excised and a gastroduodenostomy performed. A nasogastric tube passing through the anastomosis was left in place for several days. There were no postoperative complications. At the age of 19 mo the child is healthy; weight and length are within normal limits. No further children have been born in the family.
DISCUSSION
Pathogenesis The etiology of congenital intestinal atresia is not known. Tandler” suggested a failure of recanalization of the gut after a temporary solid state of epithelial or vasocclusion during embryogenesis, while others ‘i-13 favored a mechanical cular injury to a previously normal fetal intestine as causative factors. According to Bar-Maor et al.,’ there is an indication of an autosomal recessive mode of inheritance. Classification Three different variations of the lesion are represented in earlier reports. The most frequent one seems to be a more or less thin membrane, totally obliterating the lumen. The two other types show an absence of a normal wall in the pylorus which is reduced either to a fibrous cord or a complete segmental defect between the two blind ends of the ventricle and the duodenum (Fig. 2). Diagnosis Usually few days
there is a history of hydramnios during pregnancy. Within of life the patient presents bile-free vomitus, often after
the first the first
CONGENITAL
PYLORIC ATRESIA
Fig. 2.
Varieties
183
of pyloric atresia.
feeding, epigastric distension, and sometimes peristaltic waves from left to right in the upper part of the abdomen. Meconium is passed less than normal or not at all and is free from lanugo hair. There is rapid dehydration with hypochloremic, hypokalemic alkalosis. The differential diagnosis includes a number of conditions which require medical attention rather than surgical such as brain damage, adrenal cortical insufficiency, and maternal narcotic addiction. A solitary air bubble in the stomach on x-ray and no air in other parts of the abdomen suggest the diagnosis pyloric atresia. Treatment The operative treatment consists of immediate decompression of the stomach via a nasogastric tube, which should be left in place. Fluid and electrolyte balance is corrected. A thin membrane can be simply excised or perforated, but there is a great risk of postoperative mucosal swelling, which may cause obstruction. It is therefore advisable in these cases to bypass the anastomosis with a nasogastric tube. Heinecke-Mikulicz or Finney recommend that a pyloroplasty may also be needed, especially if a more thickwalled membrane has been excised. When there is a loss of continuity the method of choice according to most authors’~3*5~6~ 14-16 is a gastroduodenostomy eventually combined with a modified pyloroplasty according to Finney. A gastrojejunostomy might be the only possibility in some rare cases, but then there is the risk of a later appearance of a gastrojejunal ulcer or a blind loop syndrome.
OLSEN
184
AND GROTTE
It is of course important to look for other atresias in the gastrointestinal tract before ending the operation.
SUMMARY
Fifty-nine cases of congenital pyloric atresia have been previously reported. A familial occurrence has been described in thirteen infants in six families. This report adds two cases. REFERENCES I. Kornfield HJ: Pyloric pair. Surgery 51:569, 1962
atresia
and
its re-
2. Gross RE: Surgery of Infancy and Childhood: Its Principles and Techniques, Philadelphia, Saunders, 1961 3. Janneck C, v Ekesparre W: Kongenitale Pylorusatresie. Ein kasuistischer Beitrag. Z Kinderchir 12:345, 1973 4. Szalay GC: Letter: Congenital atresia. Arch Surg 108:248, 1974 5. Thompson al: Congenital
pyloric
NW, Parker W, Schwartz S, et pyloric atresia. Arch Surg 97:
792. 1968 6. Bronsther B, Nadeau MR, Abrams MW: Congenital pyloric atresia: A report of three cases and a review of the literature. Surgery 69:130, 1971 7. Bar-Maor JA, Nissan S, Nevo S: Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission. J Med Genet 9:70, 1972 8. Keramidas
DC, Voyatzis
N: Pyloric
atre-
sia: Report of a second occurence in the same family. J Pediatr Surg 7:445, 1972 9. Tan KL, Murugasu J: Congenital pyloric atresia in siblings. Arch Surg 106: 100, 1973 IO. Tandler J: Zur Entwicklungsgeschichte des menschlichen Duodenum in frtihen embryonal Stadien. Gegenbaurs Morphol Jahrb 29: 187, 1900 11. Nixon HH: Intestinal obstruction in the newborn. Arch Dis Child 30:13, 1955 12. Barnard CN, Louw JH: The genesis of intestinal atresia. Minn Med 39:745, 1956 13. Santulli TV, Blanc WA: Congenital atresia of the intestine: Pathogenesis and treatment. Ann Surg 154:939, 1961 14. Marwege H: Angeborene Pylorusatresieeine seltene Anomalie. Zentralbl Chir 88: 1308, 1963 15. Sailer R, Mtiller E: Die angeborene Pylorusatresie. Z Kinderchir 6:328. 1968 16. Saw EC, Arbegast NR, Comer TP: Pyloric atresia: A case report. Pediatrics 51:574, 1973
