Enteric duplication cyst(Neonatology/Pediatric Surgeon)pptx

Presentation of Enteric Duplication Cyst for Neonatologist and Pediatric Surgeons based on various books..

1. Perinatal Case discussion Enteric Duplication Cyst Presenter Dr. R K Shwetabh DM Neonatology Resident Department of Neonatology SGPGIMS , Lucknow

2. Specific Learning Objectives

3. Case Scenario Male baby, b orn to 34 year old, G4 mother, Maternal blood group:B Positive Baby blood group: B Positive Baby of X

4. Antenatal History Conception Spontaneous ANC visits 6 -8 Booked and supervised At MRH Periconceptional folic acid intake Taken TT received Yes Antenatal steroids Dexa covered Maternal risk factors Hypothyroidism since 11 th week,Tab Thyronorm @ 125mcg/day IHCP since 26 week ,Tab Udiliv 300mg,1 tab TDS Investigations NT/NB scan- done(Uterine artery –Raised PI) Started Ecospirin , Dual marker-High risk,Amniocentesis -Low risk for aneuploidy. Antenatal scan at 26+6 week suggestive of UTD A2-3,Right AP RPD 9.3 mm Scan at 30 week suggestive of intrabdominal cyst ? Enteric Duplication Cyst(1.8cm*1.1 cm) above bladder.

5. Antenatal History Gravida Details Gravida 1 (2017) Spontaneous conception. Taken periconceptional folic acid. TIFFA normal. History of IHCP(at 6 th month of gestation). Term, Male baby, NVD,3000g, weak cry, NICU admission ,?sepsis. Expired on DOL 3 . Gravida 2 (2017) Ovulation induction conceived. Spontaneous abortion at 4 months. D& C not done. Gravida 3 (2020) Spontaneous conception. Received periconceptional folic acid.NT NB not done. TIFFA normal. H/O itching in mother. USG at 8 month suggestive of IUD , induced NVD. Birth weight 2.5 kg , no gross malformation.

6. Anten atal History Mode of delivery Em LSCS (Ind-Not willing for trial of labor ) Presentation Vertex Date and time of delivery 3/02/22 at 3:40 pm Birth weight 2745 grams (10-50 th centile on fenton’s chart) Amniotic fluid Clear APGAR scores 8 ,9,9 Gender Male Gestation 36+3 weeks Cord pH 7.336,Deficit- 1 Delivery room management Baby cried immediately after birth. Delayed cord clamping done. Routine care given.

7. Examination Vitals Temperature: 36.6 deg C HR 146/min RR 46/min CRT 2 secs SpO2-9 5 % on room air ( b/l upper and lower limbs) General Examination No facial dysmorphism Pallor - Icterus- Cyanosis- absent Ecchymosis/rashes- absent AF at level, open Umbilical cord: 2 art, 1 vein Flanks not full Spine- normal Patent anal opening, normal female genitalia, No other obvious congenital anomaly Skin: no laxity Central pulse/ peripheral pulse++/++ BP=70/45(52) ( 10 th -50 th centile) RBS-144mg/dl, passed urine and stool with in 24 hours

8. Systemic examination Respiratory CVS Per abdomen CNS Bilaterally symmetrical chest movements Bilaterally equal air entry No added sounds S1 S2 present No murmur Soft No organomegaly Cry/tone/activity – good AF at level

9. Anthropometry at birth Weight 2745 g (AGA)( 10 th and 50 th centile) Length 46 cm (10 th and 50 th centile ) Head circumference 34cm (10 th and 50 th centile)

10. D1 Postnatal USG done . Pediatric surgery consultation taken P lanned for follow up at 6 weeks of age Katori spoon feeding  Direct breast feeding Postnatal course (3/2/22-8/2/22) D4 Discharged Nutrition Enteric Duplication Cyst D5 D3 D2 RBS RBS-27 mg/dl  GIR @ 6mg/kg/min tapered over 6 hours Euglycemic P olycythemia Managed conservatively

11. Parameters 3 / 2 /22 4/2 /22 4 / 2 /22 14 / 12 /2 3 19/12 /2 3 Hematocrit 65.4 61.7 54.6 Hb 11.9 11 TLC(/μl) 18800 12900 DLC N44 L50 Plt. count(/μl) 3.85 L 2.97 L Creatinine (mg/dL) 0.51 Sodium(mmol/L) 13 7 Potassium (mmol/L) 4. 4 Calcium (mg/dL) 7.9 10.3 Ionised Calcium 1. 04 1. 32 Bil (T/D) 0.3/0.16 SGOT/SGPT 43/32 Protein/Albumin 7.2/4.6 TS H 5.64 PT/INR 15/1.12 Investigations

12. USG (5/2/22) Cystic anechoic structure in RIF with size of 2.3 * 1.1 cm with no internal septation,debris and solid component.Rest solid organ normal RADIOLOGY

13. Status at discharge Baby was 5 days old On breastfeed Ad lib Euglycemic Passing stools and urine adequately Supplements-vit D3,multivitamin Vaccinated Screenings : Hearing screen-B/l passed Pulse oximetry screening- passed TSH-5.64mIU

14. Working Diagnosis Late Pre t erm/ 36+3 week/Birth weight 2.745kg / AGA/ Male/LSCS/CIAB/ Polycythemia / Hypoglycemia / Enteric duplication cyst

15. CT Scan on Follow up (12 months of age)

16. Readmission(14/12/23-27/12/23) Patient readmitted in Pediatric Surgery and repeat USG was done .

17. Surgery done on 22/12/23

18. Introduction The first report was by Calder in 1733 Rare developmental anomalies Originate anywhere along the alimentary tract from the tongue to the anus. Incidence is 1:4,500 births Male>Female Most duplications are detected in children (antenatally or within first two years of life) and fewer than 30% of all duplications are diagnosed in adults. Textbook of Pediatric Surgery,Arnold G Coran,7 th Edition

19. Location >75% located in abdomen 20%-Intrathoracic 2%-Thoracoabdominal

20. P athophysiology In 1937,William E. Ladd tried to simplify the nomenclature. Duplications of the alimentary tract had three characteristics: the presence of a well-developed coat of smooth muscle, an epithelial lining representing some type of intestinal tract mucosa intimate anatomic association with some portion of the gastrointestinal tract

21. Pathophysiology Less common 20% Communicate with bowel lumen More common 80% Don’t communicate with bowel lumen CYSTIC TUBULAR

22. Pathophysiology On the basis of part of alimentary canal attached to 1)Foregut 2)Midgut 3)Hindgut Ileum followed by oesophagus most common location The foregut duplications can be further divided into esophageal, bronchogenic, and neurenteric depending on their embryological origin.

23. Embryology No single theory

24. Partial/Abortive T winning A group of rare congenital anomalies of cloacally - derived structures– eg , focal doubling of the GI tract at Meckel's diverticulum, extending to anus, doubling of bladder, vagina, penis, sacrum, or lumbar vertebrae. Can be considered as a part of Caudal Duplication Syndrome. Along with genitourinary structure there is duplication of lower gastro intestinal tract also. Explains the colorectal tubular duplication/duplication of hindgut that are associated with duplication of genital and urinary structures.

25. Partial/Abortive Twinning The timing of these twinning anomalies may explain the extent of the twinning; for example, a split in the primitive streak earlier in gestation followed by subsequent caudal growth may result in complete twinning of the caudal end of the fetus. Split at a later date may result in only colonic duplication. Doesn’t explain other enteric duplication cyst abnormality.

26. Split Notochord Theory In 3 rd week of gestation the notochord appears growing cephalad, starting in close association with the endoderm, and normally separates from the endodermal cells. During this separation, a gap sometimes appears in the notochord through which a diverticulum from the foregut (endoderm) can herniate by incomplete detachment. These endodermal cells from the developing foregut then attach to ectoderm to form a cyst, or, if they remain attached to the notochord, may act as a barrier to later anterior fusion of the vertebral mesoderm, resulting in anterior spina bifida of the type seen with neuroenteric cysts.

27. Diverticula And Canalization Theory

28. Diverticula Theory Pitfalls: A)Heterotopic mucosa B)Duplication located on mesenteric site while but diverticula on antimesenteric side

29. Environmental Factors Role unclear During embryologic development, there is much tissue growth, differentiation, migration,preprogrammed cell death, and tissue adherence. Other anomalies, particularly intestinal atresias , may be induced by intrauterine vascular accidents.. Disorders of any of these mechanisms of development may be involved in the formation of enteric duplications Trauma & hypoxia-  Duplication and twinning attempts in fetus

30. History And Physical Examination Depends on location of cyst,type of cyst and presence of ectopic tissue. Neonates :

31. History And Physical Examination Majority present in childhood Mass in chest- Wheezing,pneumonia,dysphagia,chest pain(rare) Cyst characteristic Signs and symptoms Acute distension Severe abdominal pain Heterotopic gastric mucosa Bleeding-- Ulceration-Perforation Acutely enlarging cyst Obstruction Nausea,vomiting Large duplication Localized volvolus

32. History And Physical Examination Tubular Cystic Generally symptomatic Abdominal pain Chronic constipation Loading of intestinal contents

33. History And Physical Examination Midgut Duplication Foregut Duplication Hindgut Duplication Abdominal distension,vomiting Melena,perforation Gastric duplication cyst-Large in size May present similar to hypertoric pyloric stenosis with gastric outlet obstruction Duodenal duplication-Recurrent pancreatitis Abdominal pain,distension,melena and perforation Those arising from ileum may be confused with appendicitis May lead as lead point for intussception May present as a second opening on the perineum. Females-opening may be in the back wall of the vagina  possibility of a rectovaginal fistula. Symptoms by mass effect, obstructing the urinary tract or causing severe constipation if they are intrapelvic. Presacral-Can mimic sacrococcygeal tumour

34. Diagnosis Antenatal diagnosis by USG –Sensitivity of 20-30% History and physical examination-Boggy and mobile mass +/- tender Chest mass –Locally diminished breath sounds Lab examination – Anemia (if bleeding due to heterotopic tissue) Duplication cyst in head of pancreas-Raised amylase and lipase +clinical features of pancreatitis

35. Ultrasound

36. Ultrasound Typical gut signature sign present Wall is 2-3 mm thick Y sign(EDC share wall with adjacent GIT. Caused by splitting of shared muscularis propria between cyst and adjacent loop) Peristalsis present

37. CT Scan CT-Cystic masses with an enhancing rim (D/d-Abscess )

38. Diagnosis Technetium-99m pertechnetate scan -cyst contains ectopic gastric mucosa or not Midgut/hindgut-Difficult to diagnose Many are diagnosed in OT itself.

39. Histopathology A distinct mucosal lining and smooth muscle coat are characteristic features The mucosal lining generally corresponds to some part of the gastrointestinal tract. The mucosal lining may be heterotopic and may not correlate with the adjacent bowel. Ectopic gastric mucosa is seen in approximately 20% to 30% of the cases and is common in esophageal and midgut duplication cysts. Pancreatic mucosa is commonly observed in gastric duplications. Besides this, bronchogenic cysts have respiratory epithelium, cartilages, and bronchial submucosal glands.

40. Differential Diagnosis Disease Clinical feature Imaging feature Additional feature Meckel Diverticulum Abdominal pain,Upper GI bleed Pertechnetate scan + Anti mesenteric side Pericardial cyst Middle and anterior mediastinum --- -- Presacral mass(meningocele, dermoid etc ) MRI, AFP raised Congenital segmental intestinal dilatation -- -- USG Lack of any cystic structure adjacent to bowel

41. Ovarian Cyst Vs Enteric duplication Cyst

42. Enteric Duplication Cyst Vs Mesenteric Cyst Enteric Duplication Cyst Mesenteric Cyst Location Oesophagus to rectum Duodenum to rectum Blood supply Common Separate Muscular wall Same as adjacent structure Different Mucus producing cell Present Absent Treatment Resection+Adjacent bowel Enucleation

43. Cervical Esophageal Duplication Very rare Presentation- Early in life with respiratory distress that can be life threatening. Intubation, rapid diagnosis, and intervention are often necessary. The mass may be appreciated on physical examination. Investigation of choice –CT scan Differential diagnosis-other cystic masses of the neck such as lymphatic malformations and cysts of the airway or bronchial apparatus, or thyroglossal cysts. Treatment -excision If complete excision is not possible, the mucosa should be removed from the duplication to allow for obliteration of the cyst cavity

44. Thoracic and Thoracoabdominal duplication 20% of alimentary tract duplications - thorax or are thoracoabdominal. Location-Lower half of posterior mediastinum Most fall in neuroenteric cyst group Frequently associated with vertebral anomalies Asympyomatic +/- Respiratory distress CT scan-Investigation of choice Treatment- Primrary excision

45. Neurenteric Cyst R are foregut duplications that also have connections to the spinal canal, sometimes with the dura. Most common in thorax Cysts are formed when the notochord and foregut are in apposition, either by failure of complete separation or by herniation of foregut endoderm into the dorsal ectoderm. Investigation-MRI

46. Abdominal Foregut Duplication Cyst C ystic,large,early presentation and frequently symptomatic Along greater curvature Palpable mass and vomiting In infants mimic hypertrophic pyloric stenosis(USG useful in diagnosis) S ymptoms due to mass effect and pressure on surrounding structures  gastric outlet obstruction,pancreatitis,GER . ulcer-type symptoms from unbuffered hyperacidity with poor feeding and abdominal pain. Treatment-Resection

47. Duodenal Duplication Present as biliary or pancreatic symptoms such as jaundice(d/d-choledochal cyst) or pancreatitis. Vague symptoms- upper abdominal pain +/-nausea and vomiting (80%),early satiety, or failure to thrive. Location- medial and posterior portions of the second and third portions of the duodenum. These lesions most commonly contain duodenal or small intestinal mucosa and may occasionally communicate with the lumen of the duodenum. Investigation-CT,ERCP and MRCP Treatment-Resection

48. Midgut Duplication Cystic/tubular located on mesenteric side. Duplication shares its muscular wall and blood supply with the adjacent intestine such that the duplication resides in the leaves of the mesentery. Communication with lumen of the intestine variable. Abdominal mass and pain Cystic duplication – Intussception -  Volvolus Tubular duplication-Obstruction Ectopic gastric mucosa  peptic ulceration, bleeding, or perforation. Ectopic gastric mucosa can be diagnosed by technetium-99m pertechnetate

49. Type 2( Intramesenteric type) Type 1(Parallel Type) Duplication more to one side of the mesentery with an artery supplying the duplication while the opposite vessel went directly to the native bowel More common 5% associated with spinal abnromalities Duplication truly centered in the mesentery and vessels from both sides of the mesentery traversed the duplication to get to the native bowel Less common 90% associated with vertebral anamolies Treatment –Surgical removal Midgut Duplication

50. Hindgut Duplication 17% of all duplication Simple cystic lesions in the wall or mesentery of the colon or quite extensive, running the entire length of the colon and emerging on the perineum as a separate opening, sometimes in the back wall of the vagina. May be associated with abortive twinning anomalies and conjoined twins,duplication of urinary tract abnormalities(may be associated with lower spinal abnormalities.

51. Hindgut Duplication ,

52. Hindgut Duplication Asymptomatic Cystic mass,distension and obstructive symptoms Vague abdominal pain, constipation or failure to thrive. Rectovaginal fistula,urinary obstruction or retention Rectal duplications- pain or rectal obstruction

53. Hindgut Duplication Difficult diagnosis CT,MRI or Barium enema Rectal duplication (CT or MRI)-show the extent of the lesion, as well as the relationship to the rectum, spine, and urinary tract. Currarino triad- presacral mass, rectal stenosis and sacral bony anomalies Treatment-Surgical Removal

54. Prognosis 85% of patients with enteric duplication cyst become symptomatic and require surgery. Surgery –Curative

55. Take Home Message Intestinal duplications may present in diverse ways and encompass a wide variety of lesions from the neck to the anus. Can be simple and cystic, complex, multiple or tubular. Can have other anomalies associated with them including spinal and genitourinary anomalies. Optimal treatment is resection With proper treatment there is excellent long-term outcomes and quality of life .

56. References Avery Textbook of Newborn,11 th Edition Textbook of Pediatric Surgery,Arnold G Coran,7 th Edition Anand S, Aleem A. Duplication Cyst. 2022 Oct 24. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 33232017. Frederic Chantraine , Boris Tutschek,24 - Abdominal Cyst2018,Pages 97-105.e1 Sangüesa Nebot C, Llorens Salvador R, Carazo Palacios E, Picó Aliaga S, Ibañez Pradas V. Enteric duplication cysts in children: varied presentations, varied imaging findings. Insights Imaging. 2018 Dec;9(6):1097-1106. doi : 10.1007/s13244-018-0660-z. Epub 2018 Oct 11. PMID: 30311079; PMCID: PMC6269332

57. NEURENTERIC CYSTS Neurenteric cysts are rare foregut duplications that also have connections to the spinal canal, sometimes with the dura. Although they most commonly present as intrathoracic masses, they may also present as an intraspinal mass. The coexistence of a cystic posterior mediastinal mass with adjacent hemivertebrae should raise suspicion of a neurenteric cyst as well as anterior myelomeningocele. 124 Neurenteric cysts are thought to form early in development when the notochord and foregut are in apposition, either by failure of complete separation or by herniation of foregut endoderm into the dorsal ectoderm