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| Year : 1986 | Volume
: 32
| Issue : 4 | Page : 236-8 |
Peutz-Jeghers syndrome with unusual features (a case report).
Saxena PK, Arora RK, Mehta , Singh HH
How to cite this article:
Saxena P K, Arora R K, Mehta, Singh H H. Peutz-Jeghers syndrome with unusual features (a case report). J Postgrad Med 1986;32:236 |
Over 300 cases of Peutz-Jeghers syndrome have been reported since Peutz[7] first described the syndrome in 1921 and Jeghers[4] rediscovered it in 1949.[10] The first case from India was reported by Basu (1952).[1] McAllister and Richards[6] documented the first case of colonic intussusception in P. J. syndrome just 8 years ago.
The paucity of this entity in the Indian literature and unusual features of this case such as recurrent caeco-colic intusstusception, simultaneous presence of adenomatous polyps of large size, with clubbing and nasal polyps prompted us to report this case.
B . L . R., a 35 year old patient, was admitted on 12-3-1985 with the complaints of colicky pain in the abdomen, vomiting and mild distention of the abdomen from the last 6 days and constipation from the last 3 days. On examination, the pulse was 90/minute and BP 112/80 mm Hg. The abdomen was slightly distended. There was no rigidity or guarding except tenderness on the right side of the abdomen. No lump was felt. There was mild anaemia and marked clubbing. Buccal mucosa showed pigmentation [Fig. 1]. Per-rectal examination revealed large polypoid growth (8 cm x 10 cm), high up in the rectum. X-ray, abdomen in standing position showed 3-4 fluid and gas levels.
There was a past history of similar repeated attacks from last 6-7 years and nasal polyp removal 10 years ago. No such history or pigmentation was noted in any family member.
The patient was relieved by conservative treatment. Later on, barium series studies revealed long dilated ileal loop ending near the ileo-caecal junction and multiple papillomatous growths in the colon [Figs. 2]. While still in the ward, the patient again had similar attack of colicky pain around the umbilicus with vomiting and mucoid stools. Exploratory laparotomy at this time revealed caeco-colic intussusception which could be easily reduced. Multiple papillomas in the jejunum, ileum and colon were observed. All were removed by enterotomies and rectal polyp was removed via rectal route. The patient had uneventful recovery.
Papillomas removed from the jejunum and ileum varied from 2 to 6 cm and those from colon and rectum were 5-10 cm in size. Histopathological examination revealed hamartomatous polyps from the small bowel while a large one from the large bowel turned up to be a tubulovillous adenoma. However, there was no evidence of malignancy in any of them.
The patient is under follow up and well.
Peutz-Jeghers syndrome is an uncommon familial disease characterized by hamartomatous polyps of the gastrointestinal tract which are associated with mucocutaneous pigmentation. The disease is inherited through a Mendelian dominant gene.[4] Definite family history is detected in 60% of such cases and age varies from 10 to 30 years.[2] Familial history could not be traced in this case. Characteristic. pigmentation was present in the buccal mucosa, which usually appears in the early age and persists.[3], [4]
Recurrent G. I. haemorrhages leading to anaemia and recurrent colics with intermittent small bowel obstruction (intussusception) are the most common presenting features. Colonic polyps tend to bleed but intussusception is rare.[6] In this case, there was caeco-colic intussusception, further supported by dilatation of the terminal ileum in barium studies indicating chronic recurrent intussusception.
Intestinal polyps are found most frequently in the small intestine particularly in the jejunum. The colon and rectum are also involved in about one third and the stomach in about one fourth.[10] In the case under review, small sessile polyps were seen on exploration in the small bowel and a large-sized polyp (8-10 cm) in the rectum. Such large-sized polyps are uncommon.
Recurrent intussusception is the major indication of surgery. At operation, intussusception is reduced and all accessible polyps should be removed. Resection of gut is avoided as polyps tend to develop throughout life. Hence prophylactic operation for removal is not indicated. In this case caeco-colic intussusception was reduced and polyps removed by enterotomies. In more than 50 cases, recurrence takes place and requires multiple surgical interventions.
Associated polyps may be found in bronchi, bladder, nose and clubbing may also be seen in these cases.[3] In the present case, there was history of nasal polyp removal about 10 years back and he also had clubbing.
Biopsy proved both hamartomatous and tubulovillous adenomatous polyp. The true relation of the disease to malignancy is uncertain.[5] However, there is risk of its development by metaplastic transformation of hamartomatous polyps. Associated adenomatous polyps may show malignant change.[6], [8], [9] There was no evidence of malignant change in the case under review.
| 1. | Basu, A. K.: Familial intestinal polyposis with pigmentation of skin and mucous membrane. Lancet, 2: 586-587, 1952.  |
| 2. | Dozois, R. R., Jude, E. S., Dahlin, D. C. and Bartholomew, L. G.: The Peutz-Jeghers Syndrome-is there a predisposition to the development of intestinal malignancy? Arch. Surg., 98: 509-517, 1969. |
| 3. | Hawley, P. R.: Tumours of the small intestine. In, "Maingot's Abdominal Operations". 8th Edition, Editors: S. I. Schawartz, H. Ellis; and W. C. Husser. Appleton-Century-Crofts. Norwalk Connecticut, 1985, pp. 1141-1143. |
| 4. | Jeghers, H., McKusick, V. A. and Katz, K. H.: Generalised intestinal polyposis and melanin spots of oral mucosa, lips and digits: syndrome of clinical importance. New Engl. J. Med., 241: 993-1005 and 1031-1036, 1949. |
| 5. | Linos. D. A., Dozois, R. R., Dahlin, D. C. and Bartholomew, L. G.: Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? Arch. Surg., 116: 1182-1184, 1981. |
| 6. | McAllister, A. and Richards, K.: Peutz-Jeghers syndrome-experience with twenty five patients in five generations. Amer. J. Surg., 134: 717-720, 1977. |
| 7. | Peutz, J. L. A.: Over een zeer markwaardige, gecombineerde familiaire polyposis van de slijmvliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid-en slijmvliezen. Nederl. Maandschr. Geneesk., 10: 134-146, 1921, as cited by Dozois, R. R. et al.[2] |
| 8. | Reid, J. D.: Intestinal carcinoma in Peutz-Jeghers syndrome. J. Amer. Med. Assoc., 229: 833-834, 1974. |
| 9. | River, L., Silverstein, J. and Tope, J.: Collective review-benign neoplasms of the small intestine. A critical comprehensive review with reports of 20 new cases. Internat. Abst. Surg., 102: 1-38, 1956 in Surg. Gynaecol. Obstet. Jan. 1956. |
| 10. | Storer, E.: Small intestine. In "Principles of Surgery". Vol. 2 Editors: S. I, Schwartz, G. T. Shires, F. C. Spencer and E. H. Storer. Fourth edition. McGrawHill International Book Company, Singapore, 1983, p. 155. |
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