672 Case reports

RORSMAN, H., DAHLQUIST, I., JACOBSSON, S., BREHMER-ANDERSON, E., EHINGER, B., LINELL, F. & RORSMAN, G.(1969) Tattoo granuloma and uveitis. Lancet, ii, 27.

SCADDING, J.G. (1967) Sarcoidosis, p. 208. Eyre & Spottis-wood, London.

SCUTT, R.W.B. (1972) The medical hazards of tattooing.Hospital Medicine, 2, 195.

WEIDMAN, A.I., ANDRADE, R. & FRANKS, A.G. (1966)Sarcoidosis. Archives of Dermatology, 97, 320.

Postgraduate Medical Journal (September 1975) 51, 672-676.

Multiple carcinomas of the large and small bowel in childhood

DAVID R. HARVEY FERNANDO J. PARADINASM.B., B.S., L.R.C.P., F.R.C.S. L.R.C.P., L.R.C.S., M.R.C.Path.

SummaryA case is reported ofmultiple metachronous carcinomasof the small and large intestine in a child. The latterwere associated with multiple adenomatous polyps inthe colon. A desmoid tumour and multiple keloidsdeveloped in the laparotomy scars. The relationship ofthis case to Gardner's syndrome and polyposis coli isdiscussed and the literature on intestinal carcinoma inchildhood is briefly reviewed.

IntroductionSmall bowel carcinoma has occasionally been

described in association with Gardner's syndromeand large bowel carcinoma is a common late com-plication of this syndrome and of polyposis coli.However, we have not found previous reports ofmultiple small and large bowel carcinomas in thisage group.

Case reportA 13-year-old girl was admitted in October 1970,

with weight loss, abdominal pain, anaemia, feverand a mass in the left iliac fossa. She and two siblingshad had idiopathic thrombocytopenic purpura whichin her case had remitted spontaneously. At laparo-tomy, an ulcerating carcinoma of the lower descend-ing colon and an adenomatous polyp found 5 cmdistal to the carcinoma were removed by left hemi-colectomy. The carcinoma was of mucoid type(Fig. 1) and involved the full thickness of the walland one paracolic lymph node. Post-operativerecovery was uneventful and extensive enquiriesrevealed no family history of polyposis coli orcarcinoma of the colon. Follow-up barium studiesrevealed no further polyps.

In August 1971, she was readmitted with acute onReprint requests to: Dr D. R. Harvey, Charing Cross

Hospital, Fulham Palace Road, London W6 8RF.

subacute intestinal obstruction and a mass in theright iliac fossa. At laparotomy two small bowelcarcinomas were resected: one in the upper jejunum,7 5 cm distal to the duodenal jejunal flexure, and one10 cm proximal to the ileocaecal junction. Micro-scopy showed non-mucoid adenocarcinomas involv-ing the submucosa and inner muscle only (Fig. 2).This supported the operative impression of twoseparate primary small intestinal adenocarcinomasrather than metastases from the original mucoidcarcinoma. Lymph nodes taken from the root of themesentery showed marked follicular hyperplasia, butno evidence of metastases.The patient was again admitted in April 1972 with

a mass in the original colectomy scar. Clinically thiswas thought to be a recurrence of the carcinoma, butat operation and on subsequent histology it provedto be a desmoid tumour which was widely resectedas a monobloc procedure. Reconstitution of theanterior abdominal wall was by primary suture withminimal undermining. During follow-up in 1972repeated chest X-rays, a barium meal with followthrough, a barium enema and sigmoidoscopy at6-monthly intervals were all normal. In particularthere was no evidence of further intestinal polyps.

In September 1973 the patient attended againcomplaining of lassitude, diarrhoea and headache.Anaemia and a mobile tumour palpable in the leftiliac fossa were the clinical findings. Biopsy of a largepedunculated tumour of the rectum showed part ofan adenomatous polyp. A barium enema showedmultiple colonic polyps and a stricture of the sigmoid(Fig. 3). A radiological diagnosis of carcinoma wasconfirmed at operation. The colon showed anulcerated stenosing tumour, merging with a sessilepolyp immediately above the ulcer (Fig. 5). Up tofourteen other polyps were present in the totalcolectomy specimen (Figs. 4 and 5) and two further

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*~~~~~~~~~~~~~~~~~~~~~!!uiesad

II.4. .~~~~~~~~~~~~~~~ ~..

FIG. 1. Mucoid carcinoma of descending colon.

IN

FIG. 2. Jejunal carcinoma.

polyps were removed from the rectal stump after theileorectal anastamosis had been performed. A singlemetastasis present in the right lobe of the liver wasresected.

Since then, the patient has remained well. Stoolfrequency settled to three soft motions per day andgains in height and weight are noticeable. Bariumstudies show no residual polyps in the small bowelor rectal stump and regular sigmoidoscopy to theanastomotic level remains normal. It was interestingto note that the abdominal scars have all shownmarked keloid formation. Immunoglobulin estima-tions and lymphocyte transformation tests per-formed before total colectomy were within normallimits.

DiscussionIn the present case, the absence of a family

history of polyps and the relatively small number ofpolyps in the colon, suggest that the condition is notfamilial polyposis or polyposis coli as defined byMorson and Bussey (1970) but what these authorscall 'multiple adenomatous polyps'.

Peutz-Jeghers syndrome is effectively excluded bythe absence of other clinical features, the histologyof the polyps, the absence of small intestinal polypsand the subsequent malignant behaviour of thecolonic polyps. Despite a few reports of malignancyin Peutz-Jeghers syndrome the polyps in this syn-

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Polyps \ _,~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ ... .. .... ¢i..jCarcinomastricture

FIG. 3. Barium enema showing multiple filling defects and carcinomatous stricture.

...

cm

FIGS. 4 and 5. Colectomy specimen with polyps and carcinoma.

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drome are generally held to be hamartomas and notprone to carcinomatous change.The association of large bowel adenomatous polyps

with a desmoid tumour raises the possibility ofGardner's syndrome (Gardner and Richards, 1953;Gardner, 1951). However, no other features of thissyndrome-epidermoid cysts, osteomas, lipomas ordentigerous cysts-were found. Desmoid tumourscommonly occur after abdominal operations andhave been described in this syndrome and in other-wise classical polyposis coli (Doberauer, 1972). Thedevelopment of such a tumour in our patient appearsto us insufficient reason to classify this case asGardner's syndrome.

Small intestinal carcinoma is a rare tumour at anyage and it is of interest that a few cases have beendescribed in patients with Gardner's syndrome(Macdonald et al., 1967; Stalport and Letawe,1971). In all these cases the tumour was single andlocated in the duodenum, whereas in our case thetwo tumours were in the jejunum and ileum.Bonelli (1947), in a review of the literature, foundtwelve reported cases of small intestinal adeno-carcinoma in children; 50% of them were in theduodenum and 50% in the jejunum. No multiplecarcinomas were described, but such cases have beenreported in adults (Gunn, 1959).Carcinoma of the colon in childhood is less of a

rarity, but it is still uncommon, and this, togetherwith a low index of suspicion makes the diagnosisdifficult. Abdominal pain, fever, anaemia and anabdominal mass are the most usual presentingfeatures, instead of the more commonly encounteredalteration of bowel habit in adults. As in our casethe diagnosis may be made with certainty only onbarium studies or at laparotomy.Carcinoma of the colon in childhood has a poor

prognosis when compared with that in adults. In aseries reported by Middlekamp and Haffner (1963),less than 10% of the patients had survived 5 years,the long survivals occurring in patients with welldifferentiated tumours. This bad prognosis may bedue partly to delays in diagnosis, but also to the factthat a higher proportion of colonic carcinomas inchildren are of the mucoid variety (O'Brien, 1967).Mucoid carcinomas are said to metastasize early,and have a worse prognosis than other types (Wolf-man, Astler and Coller, 1957). This was certainlythe case in the three patients under 18 years of agereported by Cain and Longino (1970) and in otherreported series in which most patients were deadwith disseminated disease within 6 months (Acker-man and del Regato, 1962). The long survival of ourpatient after removal of a mucoid carcinoma withlymph node metastases appears to be an exceptionto this general rule.

It is of interest that in the present case most of the

adenomatous polyps appear to have developed afterthe resection of the first carcinoma. In this respectthere is little resemblance between this case andcases of polyposis coli and Gardner's syndrome, inwhich carcinomas seldom occur before the age of20 and there is usually a long delay between theappearance of the polyps and the development ofmalignancy. In adults it has been noted that thepresence of adenomatous polyps with a coloniccarcinoma makes the presence ofa second carcinoma,or its subsequent development, twice as likely(McColl, 1970). This also holds true for this particu-lar, much younger patient.The existence of multiple carcinomas in this case

prompted investigations to assess the immunologicalstatus of the child. As far as it can be judged by thehistology of the lymph nodes, the immunoglobulinsand the lymphocyte transformation test, no immuno-logical defect was present.

Finally, this case shows that recurrent symptomsand masses following the resection of carcinomas ofthe colon in children, as in adults, need not signifysecondary spread or inoperable lesions. An activesurgical approach appears encouraging in theabsence of widespread disease, but the long termprognosis of intestinal carcinoma in childhood mustremain guarded.

AcknowledgmentsWe would like to thank Mr P. Stringer for his permission

to publish this case, Dr R. Maini and his laboratory at theKennedy Institute for performing the immunological com-petence studies and Miss P. Turnbull and Mr R. Barnet atCharing Cross Hospital for preparing the photographs.

ReferencesACKERMAN, LV. & DEL REGATO, J.A. (1962) Cancer Diag-

nosis, Treatment and Prognosis, 3rd edn, p. 645. Mosby, StLouis.

BONELLI, W.R. (1947) Malignant tumours of the small andlarge intestine in infants and children. Clinical Proceedingsof the Children's Hospital, Washington, 3, 151.

CAIN, A.S. & LONGINO, L.A. (1970) Carcinoma of the colonin children. Journal of Pediatric Surgery, 5, 527.

DOBERAUER, B. (1972) Desmoid tumour and familial poly-posis of the colon. Wiener Klinische Wochenschrift, 84, 32.

GARDNER, E.J. (1951) A genetic and clinical study of intes-tinal polyposis; a predisposing factor for carcinoma of thecolon and rectum. American Journal of Human Genetics,3, 167.

GARDNER, E.J. & RICHARDS, R.C. (1953) Multiplecutaneous and subcutaneous lesions occurring simul-taneously with hereditary polyposis and osteomatosis.American Journal of Human Genetics, 5, 139.

GUNN, S.W.A. (1959) Double carcinoma of the smallintestine. Gastroenterology, 36, 256.

MCCOLL, I. (1970) Pathology and tratment of polyps of thecolon and rectum. Annals of the Royal College of Surgeonsof England, 47, 245.

MACDONALD, J.M., CLAYTON DAVIS, W., CRAGO, H.R. &BERK, A.D. (1967) Gardner's syndrome and periam-pullary malignancy. American Journal of Surgery, 113, 425.

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MIDDLEKAMP, J.N. & HAFFNER, H. (1963) Carcinoma of thecolon in children. Pediatrics, 32, 558.

MORSON, B.C. & BUSSEY, H.J.R. (1970) Predisposing Causesof Intestinal Cancer-(monograph) Chicago, p. 31. YearBook Publishers, Inc.

O'BRIEN, S.E. (1967) Carcinoma of the colon in childhoodand adolescence. Canadian Medical Association Journal,96, 1217.

STALPORT, J. & LETAWE, P. (1971) Gardner's syndromeassociated with malignant degeneration of a polyp ofOddi's sphincter. Acta gastro-enterologica belgica, 34, 644.

WOLFMAN, E.F., ASTLER, V.B. & COLLER, F.A. (1957) Mucoidadenocarcinoma of colon and rectum. Surgery, St Louis,42, 846.

Postgraduate Medical Journal (September 1975) 51, 676-681.

Familial dwarfism: case report

S. NADER F. H. DOYLEB.Sc., M.R.C.P. F.F.R.

J. A. FISHER K. MASHITERM.A., M.B., B.Chir. Ph.D.

G. F. JOPLINPh.D., F.R.C.P.

Endocrine Unit and Department of Diagnostic Radiology, Hammersmith Hospital,Du Cane Road, London WI 2 OHS

SummaryThree sisters are described, of consanguinous parents,with multiple trophic hormone deficiencies presentingas short stature. In two of them the size of the sellaturcica is large in relation to the skeletal age andheight. All three show an acute metabolic response toan administered preparation of human growthhormone.

IntroductionGrowth hormone deficiency resulting in short

stature may occur in the absence of an obviousstructural lesion in the pituitary-hypothalamic areaas an isolated defect or as part of the syndrome ofidiopathic hypopituitarism. Both may occursporadically or in families (Goodman, Grumbachand Kaplan, 1968). Studies of families suggest auto-somal recessive inheritance (Trygstad and Seip,1964). Until recently it was only possible to guessthat trophic hormone deficiency existed by extra-polating from tests of pituitary function but with theavailability of gonadotrophin releasing hormone(LH/FSH-RH) and thyrotrophin releasing hormone(TRH) and serum assays for pituitary hormonesdefective pituitary reserve can be documented. Jobet al. (1972) showed a failure of thyrotrophin (TSH)to rise in response to TRH in a dwarfed child who

had growth hormone deficiency and Chaussain et al.(1972) have tested gonadotrophin reserve in similarchildren. In their series of five patients with growthhormone deficiency, one female had a normal gona-dotrophin reserve and four males had impaired orabsent reserves.

Radiological studies have shown that the pituitaryfossa size of one-third of patients with idiopathichypopituitarism is abnormally small, the volumebeing more than two standard deviations below theage and height related means of the control group(Underwood et al., 1973). This is in keeping withthe findings of Goodman et al. (1968) and our ownexperience.The nitrogen retaining and hypercalcuric action

of growth hormone can be used to test growthhormone responsiveness in susceptible subjects.Though there are conflicting reports as to prognosticuse as far as future growth is concerned (Melvin et al.,1967; Clayton, Tanner and Vince, 1971) these testsare of value in demonstrating target organ sensitivityto an administered preparation of human growthhormone.We report on three sisters, of consanguinous

healthy parents, with multiple trophic hormonedeficiencies presenting as short stature. Our dataincludes assessment of their pituitary function, theiracute response to human growth hormone and we

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