kathmandu medical college, department of surgery

1. Intestinal Ganglioneuromatosis-
A rare entity
Dr. Uttam Laudari
JR III
Department of General Surgery
Kathmandu Medical college

2. Background
• Ganglioneuromas are benign rare tumors arising from ganglion
cells, nerve fibres and supporting cells.
• Usually associated with type 1 neurofibromatosis (NF), multiple
endocrine neoplasia (MEN) type 2B and Cowden syndrome.
• In children: frequently associated with systemic syndromes.
• Intestinal ganglioneuromatosis (IGN) is extremely rare in adults,
particularly in sporadic and isolated forms.

3. Background
• Association with NF I and MENIIB have been reported
but there are only few reported cases of isolated intestinal
ganglioneuromatosis
• Hence we report a case of 55 year old male who was
diagnosed as Isolated Intestinal Ganglioneuromatosis

4. Description
• History
• 55 year old male attended the surgical OPD with
complaint of pain in right lower abdomen for 10 years.
• Altered bowel habits for 4 years.
• Melena on and off for 2 years
• Weight loss of 10 kg in last 4 months,
• Increasing severity of symptoms for last 4 months.
• Smoker, consumes Gutkha, and an occasional alcohol
consumer.

5. Description
• Systemic Examination – was with in normal limit

6. Colonoscopy
• Ulcerated thickened
mucosa with granulation
tissue
• Polypoid 1-2cm mass
with eroded haemorrhagic
superficial mucosa
• S/O Terminal ileum ulcer
with mass

7. HPE
• From ileum polyp
• Consistent with inflammatory fibroid polyp
• Negative for tuberculosis and malignancy
• From ileum
• Tiny fragments of ileal tissue with moderate infiltrate
of eosinophils, lymphocytes and plasma cells

8. Imaging
• CXR- normal
• CECT abdomen
• Diffuse circumferential wall thickening of a very long segment of distal
ileum upto IC junction
• The thickened wall measures upto 16.7 mm thick and shows some
enhancement
• No focal mass lesion seen in the bowel.
• Dilatation of small bowel just proximal to involved ileum
• Multiple enlarged enhancing mesenteric lymph nodes, largest one
measuring 31mm.
• No calcification or necrosis seen in these nodes
• Omental thickening measuring 12mm thick with enhancing nodules seen

9. • He was operated for continuous distressing pain,
significant weight loss and decreased appetite
• Provisional Diagnosis-
• Small bowel lymphoma
• Surgery-
• Exploratory laparotomy with segmental resection of ileum and
ascending colon with end to end ileocolic anastomosis

10. Resected specimen

11. Gross specimen
caecum ,
appendix
Terminal
ileum (38
cm)
Colon
Thick, firm and heavy small intestine with marked narrowing of the lumen
involving 26 cm length with dilatation proximal to this.

12. Multiple mucosal elevations with ulceration was seen .
Wall was thickened and measured 1.5cm

13. Mesenteric nodules- 0.5cm to 2.5cm in
diameter
Most nodules-
Grey white
Others- Bluish
hue

15. Microscopy
Nerve fibres and ganglion cells
revealed prominent
proliferation of nerve
fibres with ganglion
cells in submucosa that
extended throughout the
muscular layer into the
subserosa
Submucosal proliferation of nerve fibres

16. Immunohistochemistry
400X S-100 positive.

17. Diagnosis - Diffuse intestinal
ganglioneuromatosis

18. Retrospective evaluation
• Dermal neurofibromas, café-au-lait macules, Lisch
nodules and marfanoid habitus not seen
• Thyroid and abdominal ultrasonography
• No evidence of adrenal or thyroid tumors
• Post operative period was uneventful.
• Patient is on close follow up

19. Discussion
• GNs are rare benign and well differentiated tumours
characterized by hyperplasia of ganglion cells, nerve fibres and
supporting cells.
• shows transmural proliferation of nerve plexus in bowel and
has strong association with NF 1 and MEN IIB
• associated with FAP, Cowden disease, tuberous sclerosis and
colon adenocarcinoma
Chirurgia, 2013;108(4):584–8
Exp Ther Med. 2015;9(3):733–6.
Am J Surg Pathol. 1994;18(3):250–7

20. N =28
All associated NF I
Classified into
1. polypoid GN
2. ganglioneuromatous
polyposis
3. diffuse
Ganglioneuromatosis
Appendix,
Colon
terminal ileum right colon
sigmoid colon,
rectal
stomach involvement of
diffuse GN was found

21. N= 18 cases
Strong association with NF I
Median age 32 year
Male >female
Commonest site- colon
Rarest site- small bowel

22. Isolated ileal ganglioneuromatosis in adult revealed by
obscure digestive bleeding
58 year old
obscure GI bleeding
was operated for persistent IDA
later on HPE revealed ileal GNM, with no association with
NF I and MEN IIB
They recommended role of video capsule endoscopy for
diagnosis

23. Patient with iron deficiency anaemia, with no visible bleeding
and requiring frequent blood transfusion.
Video capsule endoscopy ulcerated stenosis in small bowel
but biopsies taken at balloon enteroscopy was not conclusive
laparotomy and resection of stenotic segment was done
revealed diffuse intestinal GNs and no association with NF I
and MEN IIB

24. Pratap A et al. Ganglioneuroma of small bowel mesentery presenting as
acute abdomen. J Pediatr Surg. 2007;42(3):573–5.
Ganglioneuroma of small bowel presenting with acute
abdomen has been reported from Nepal, but Diffuse GNs
without syndromic manifestation are the rare
presentation

25. Peculiarity in our case
• Ileum involvement
• vague abdominal discomfort, constipation and melena
• no association with MEN IIB and NF1
• Colonoscopy and biopsy was inconclusive
• Capsule endoscopy and double balloon endoscopy could not be done
• CT scan of abdomen was consisted with Small bowel Lymphoma
• Diagnosis was made on the basis of histopathologic findings
• confirmed by immunohistochemistry (S-100 positive)

26. Conclusion
• rare benign tumour, with proven association with NF I
and MEN IIB
• long history, with varied clinical presentation from
constipation, diarrhoea, obscure GI bleeding, unexplained
weight loss etc.
• The radiological investigation may be inconclusive due to
its rarity.
• The role of Video capsule endoscopy is yet to be
established.

27. Conclusion
• Surgical resection of the involved bowel is the treatment
of choice.
• Diagnosis is based on the gross and histopathologic
findings. IHC may be confirmatory.
• Since its association with NF I and MENIIB, thorough
examination and investigations to rule out these
syndrome are mandatory before discharge and follow up.

28. Consolation award for poster – SACS Conference
BPKIHS , 2016

29. Thankyou
NepaleseAssociation of Surgical Gastroenterology

32. • SACH conference BPKIHS
• Date-16/17/18
• -Consolation award for poster…