Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review

Abstract

Introduction:

Pyloric atresia is a rare cause of congenital gastric outlet obstruction. It is often associated with epidermolysis bullosa (EB). Rarity and experience with 11 cases are the reason for this publication.

Aims and Objectives:

The aim and objective of this study is to present our experience of 11 cases of congenital pyloric atresia and correlate with available literature.

Materials and Methods:

This was retrospective cohort of 11 cases correlative comparative study. Data of all the 11 cases from 1982 to 2019 were collected, reviewed, and analyzed. The parameters studied included age, gender, antenatal diagnosis, postnatal diagnosis, preoperative management, intraoperative findings, postoperative course outcome, associated anomalies, and any genetic studies if done. All these parameters were compared with published data.

Results:

There were 11 cases in the present series with six boys and five girls. Most of them presented at varying periods from birth to day 1 of life.

Discussion:

Congenital pyloric atresia may be isolated or associated with EB. Three varieties of pyloric atresia were described. Association with EB increases the mortality.

Conclusions:

Review and analysis of 11 cases of pyloric atresia compared with published literature is being reported.

INTRODUCTION

Pyloric atresia is a rare cause of congenital gastric outlet obstruction. It may be associated with epidermolysis bullosa (EB). EB when associated with congenital pyloric atresia contributes to increased mortality. Experience with 11 cases over 37 years is the reason for this publication.

Aims and objectives

To report, review, analyze, and correlate 11 cases of congenital pyloric atresia with published literature.

MATERIALS AND METHODS

This is retrospective cohort of 11 cases and a correlative comparative study. The data of all cases of pyloric atresia were retrieved from senior author's database from 1982 till 2019. The various parameters collected were age, gender, antenatal diagnosis, postnatal diagnosis, preoperative management, intraoperative findings, postoperative course, outcome, associated anomalies, and any genetic studies done.

Similar parameters from the published data were tabulated and compared with the present series with particular attention to the association of pyloric atresia with EB.

The diagnostic modalities included antenatal ultrasonography (USG), plain radiograph, barium series, and imaging for associated anomalies.

RESULTS

There were 11 cases in the present series with six boys and five girls. Most of them presented at varying periods from birth to day 1 of life. Pyloric atresia was suspected antenatally based on polyhydramnios and single bubble sign. Few cases underwent chromosomal analysis with normal karyotyping in most of them. Contrast study was done in all.

All cases managed with care of fluid and electrolyte balance, nasogastric decompression, prevention of sepsis, prevention of exposure-related hypothermia, particularly in cases associated with EB along with standard new-born care.

Following was the observation in the present series: four cases presented at birth, three cases presented <12 h, and three in <24 h. There were six boys and five girls.

There were eight cases of type 1 pyloric atresia, two cases of type 2, and one case of type 3 pyloric atresia.

Five out of 11 cases were associated with EB.

Five out of 11 cases survived and six out of 11 cases died. Two out of six cases (33.3%) with isolated pyloric atresia died. Four out of five cases (80%) with EB died.

In the present series, one case of EB has survived and is growing satisfactorily. Follow-up included a child of 11 years. Skin started healing and the child continues to take extra caution to prevent trauma to the skin. Children with isolated pyloric atresia's are thriving well.

One child of gastroduodenostomy presented with obstruction. Laparotomy revealed multiple intestinal adhesions and narrowed stricture of gastroduodenostomy. It was managed by adhesiolysis and revision gastroduodenostomy.

Isolated cases of pyloric atresia did not show any anomalies. However, pyloric atresia with EB showed various renal anomalies, cardiovascular anomalies such as PDA and VSD. The present series did not have any syndromic EB.

Table 1 shows comparative analysis of the chosen parameters with present series and published literature.

Table 1.

Comparative analysis of the chosen parameters with present series and published literature

No	PARAMETERS	INDEX SERIES N=ll	A okulu et al	B Das et al	C J Hong etal	D Amine et al	E et al	F Swiss	G Sandesh et al	H Hasan et al	1 etal	J Nadine et al	K Rahul et al
1	Age	Born at birth-4 <12hrs- 4 <24hrs-3	Day 1	Day 7	Day 2	Day 2	Day 1	Day 3	Jay 3;F L4mth,F L0day;M	Day 4	Day 1 Male	Day 6	Dayl- 3Yrs
2	Sex	5 Males; 6 Females	Male	Male	Female	6 Males; 4 Female s	Female	Female	Day 3; F 14mth,F l0day;M	Female	Male	Female	8 Males; 3 Females
3	Antenatal Diagnosis	Done in 7/11 all showed cm & single jastric bubble.	Gastric dilation &U/L hydro-nephrosis seer on USG	NA.	NA.	Done in 4/10 all showed polyhydra mnios & single jastric bubble.	NA.	Diaenoed with polyhy dramni os & single gastric bubble	Done in 2/3 cases v;ith normal findings	NA.	NA.	Diaenoed with polyhyd ramnios & single gastric bubble	Not Reported-d.
4	Postnatal Diagnosis	ACC in 5 cases EB in most Confirmed by air gastro gram	PA with CB confirmed on X ray & skin biopsy.	PA with CB confirmed on & skin biopsy.	PA with CB confirm ed on & skin biopsy.	PA With EBin 2 cases	PA confirmed an upper Gl contrast study	PA confirm ed on X ray	PA with CB confirmed an & skin biapsy m 1 case	PA with ACC & EB confirme donX- ray.	Upper 61 obstruct ion with peritonit is	PA complic ated by Metabolic acidosis	PA in 7 cases With avsoc. anomalies in others
5	Pre-OP management	General newborn care Prevention of icpsu & fluid loss in CB hormothermia	-	IV fluids NG det.arrpre ssion Antibiotics	IV fluids NG decamprcssian Antibiotics	IV fluids NG decomprcssian Antibiotics	IV fluids NG decampression Antibiotics	IV fluids NG decampression Antibiotics	IV flu 1 NG decampression Antibiotics	IV fluids NG decampression Antibiotics	IV fluids NG decampression Antibiotics	IV fluids NG decampression Antibiotics	IV fluids NG decamprcssion Antibiotics
6	Intra OP findings	Type 1 in 8 rype2 in 2 Type 3 in 1	Surgery could not be performed	-ion in stornach wall & Type 1 PA	Gastric perfortion & Type 1 PA	typelin 9 cases type 2 in 1 case	Type 1 PA	Typel PA	Typel PA in 2 cases Type2 PA ini	Type 3 PA	Typel PA with multiple colonic atresia	Type2 PA	type 1 in 6 Type2 in 1 Type 3 in 4 cases
7	Post OP course	2 had frank sepsis 4 cases had suspected sepsis	-	Skin blisters seen on Day 3 post- OP	Multiple bullae seen POStOP	7 cases had sepsis	NJ tube feeding started	Uneve ntful	PA with EG develo ped septice mia	Uneve ntful	Uneve ntful	Uneve ntful	2/11 with EB develop ed sepsis
8	Outcome	3 EB died in 7 days 1 EB died after 4mth 1 EB survived 2 PA died 1 lost to follow up 3 doing well	Died on day 4 of life	Survived	Survived	3 survived 7 died	Survived	Survived	1/3 died	Died	Survived	Survived	2 Died 9 survived
9	Associated anomalies	3 renal anomalies all with EB 1 VSO 1 PDA 1 microcephaly 1 single umb artery.	Renal anomal ies with JEB& ACC	EB	EB	EBin 2 Downs syndro me in 1	Nil	Nil	EBin 1 out of 3 cases	EB	Multiple colonic atresia's	Renal anomal ies	ITCF, 1 Colonic atresia 1 EB-SND-Renal dysplasia, 1 EB
10	Genetic studies Done	Done only in 1- incondusive Karyotype done in 8 with normal results.	Novel homozygous mutation in ITGB4 eene.	Not Reported.	Not Reported.	Not Reported.	Not Reported.	Not Reported.	Not Reported.	Not Reported.	Not Reported.	Not Reported.	Not Reported.

DISCUSSION

Pyloric atresia is a rare cause of gastric outlet obstruction. Incidence varies approximately 1 in 100000 live births.[1,2] It is a developmental error. Many hypotheses have been proposed to explain its occurrence ranging from noncanalization to intrauterine vascular accident.[3,4] Other explanations included recurrent mucosal ulceration and healing leading to scar formation. This was described as a part of effect of altered expression of alpha 6 beta integrin which leads to adherence of epidermis to tissues at the level of dermo-epidermal junction as a result of mutations in ITGA6 and ITGB4 genes.[4,5,6]

It can be suspected antenatally on high resolution maternal USG. Their findings included polyhydramnios and single bubble sign.[1,7,8] In the present series, 7 out of 11 cases were diagnosed antenatally [Figure 1]. In the published literature, 5 out of 11 cases showed antenatal suspicion.

Figure 1.

(a) Clinical picture of a new-born with epidermolysis bullosa showing exfoliated skin of almost the entire body. (b) Plain radio-\graph showing single bubble with total paucity of gas distally. Single bubble sign

Most of the published data were single case reports, Gupta et al. published experience with 11 cases.[1]

EB is often associated with pyloric atresia^.4,[8,9,10] It is a mechanobullous disorder characterized by increased skin fragility and blister formation.[11,12] The association is classical and characteristic.[1,2,7,8,9] EB is associated with type 6 aplasia cutis congenita.[13,14] They are usually caused by genetic errors.[4,5] Five out of 11 cases in the series were associated with EB.

Four types of EB were described.[15] EB simplex (EBS) and dystrophic EB are usually due to autosomal dominant (AD) genes and hence may have familial inheritance. Whereas junctional EB and kindler syndrome are inherited in an autosomal recessive pattern.[10] EB acquisita is rare and usually not associated with pyloric atresia.

The treatment of pyloric atresia includes (1) Preoperative care for gastric outlet obstruction, (2) relief of obstruction, and (3) establishment of gastro-duodenal continuity.[1,2,9,10]

Associated EB requires additional care - To prevent evaporative hypothermia and fluid loss, prevention of sepsis, evaluation of associated anomalies, protective dressing to prevent further exfoliation, avoiding trauma. An attempt was made to take care of all the above aspects in the case series with EB. The primary treatment of pyloric atresia is operative intervention.[4]

Three anatomical types of PA's were described.[1,2,5,7,9,10] Types of Pyloric Atresia–(1) Type 1– Pyloric membrane or web (57%). (2) Type 2 – Pyloric tissue replaced by solid cord/tissue (34%). (3) Type 3 – Pyloric atresia with a gap between the stomach and duodenum (9%).

The present series had eight type 1, two type 2, and one type 3 pyloric atresia's. The published literature showed similar incidences 65.6% of type 1, 12.5% of type 2, and 15.6% of type 3 pyloric atresia.

Type 1 usually managed by excision of diaphragm and Heineke Mikulicz or Finney's type pyloroplasty [Figure 2]. In the present series, all Type 1 PA's were managed by Heineke Mikulicz type pyloroplasty. The authors routinely added feeding jejunostomy and/or double gastrostomy tube with one feeding tube across the anastomoses into the jejunum for feeding purposes.

Figure 2.

(a) Operative picture showing type 1 pyloric atresia. (b) Completed Heineke Mikulicz type of pyloroplasty

Type 2 and Type 3 were managed by gastroduodenostomy. A two-stage procedure was recommended by Sonal Nagra and Jitaco KC.[16]

Gastrojejunostomy was not done in present series. Published literature suggested gastro-jejunostomy previously but not scientifically advisable/desirable procedure for gastric outlet obstruction. Multiple anomalies were described including multiple intestinal atresia's.[17]

Chromosomal karyotyping was done in eight out of 11 cases in the present series, with normal results. Additional genetic test includes gene analysis of ITBG4 gene. The present series did not do genetic analysis. Published literature showed the presence of novel mutation in the ITGB 4 gene.[15]

Comparing the outcome, present series had 54.5% of mortality, splitting further isolated pyloric atresia with 33.3% mortality from pyloric atresia associated with EB showing increased mortality (80%). Similar experience is published by many.[1,3,7,9,10,15,18]

CONCLUSIONS

Pyloric atresia is a rare cause of gastric outlet obstruction.

Association with EB is often characteristic. EB with pyloric atresia is often fatal.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.