REFERENCES
1. Hall, B. D., and Smith, D. W .: Prader-Willi syndrome, J. PEDIATR. 81: 286, 1972.
2. Blumel, J., and Kniker, W. T .: Laurence- Moon-Bardet-Biedl syndrome, Tex. Rep. Biol. Med. 17: 391, 1959.
Adrenocortical carcinoma and congenital bemihypertrophy
Barry N. Haicken, M.D.,* Norman H. Schulman, M.D., and Keith M. Schneider, M.D., Bronx, N. Y.
CHILDREN with congenital hemihyper- trophy, a condition characterized by gross asymmetry of the body, are at unusually high risk for developing three types of intra- abdominal malignancy: Wilms’ tumor, ad- renocortical carcinoma, and hepatoblas- toma.1-8 The case is presented of a 10-month- old infant with congenital hemihypertrophy. Although the patient was asymptomatic, an intravenous pyelogram was obtained because of the known association of hemihypertrophy with malignancy. This led to the discovery of a nonfunctioning, and otherwise silent, adrenocortical tumor.
CASE REPORT
A 10-month-old, white male infant was ad- mitted to the Hospital of the Albert Einstein College of Medicine for evaluation of a discrep- ancy in leg size, the left leg being larger than the right. The condition was recognized as hemihypertrophy.
The patient weighed 7 pounds, 10 ounces at birth. The mother, a healthy 22-year-old gravida
From the Departments of Pediatrics and Surgery, Hospital of the Albert Einstein College of Medicine.
3, para 2, white woman, had light vaginal bleed- ing during all trimesters of the pregnancy. She had no known drug, chemical, or radiation ex- posure. The father was 23 years old and had a congenital cleft lip and palate. A 21/2-year-old male sibling was alive and well.
At birth it was noted that the patient’s left leg was larger than the right. In addition, a soft swelling of the left lower quadrant of the abdominal wall was palpable.
Subsequently the infant was in good health, and weight gain and developmental milestones were normal.
On physical examination there were none of the manifestations of Cushing’s syndrome or precocious puberty, and the blood pressure was normal. Cafe-au-lait spots were not present, but a capillary hemangioma, 1 cm. in diameter, was present on the back. The abdomen was soft and nontender. A soft mass, measuring 6 × 5 cm., was palpable in the abdominal wall of the left lower quadrant.
The left leg, buttock, and scrotal sac were grossly larger than the corresponding parts on the right. Circumferences of the left thigh and leg were, respectively, 1 cm. and 2.5 cm. greater than those on the right.
Physical examination was otherwise within normal limits.
The following laboratory data were within normal limits: complete blood count, coagulation profile, serum chemical values, urinalysis, 24 hour urine assay for 17-ketosteroids and vanyl- mandelic acid, and peripheral blood karyotype (46,XY).
An intravenous pyelogram revealed a calcified left suprarenal mass and a “horseshoe” kidney. Abdominal angiography showed the mass to be distinctly separate from the kidney and demon- strated a vascularity suggestive of an adrenal tumor. A bone marrow biopsy revealed no meta- static cells, and roentgenographic survey of the skeleton disclosed no abnormalities.
On the third hospital day a laparotomy was performed. A solid left suprarenal mass, 4 cm. in diameter, was removed. There was no evidence
of metastases, and the right adrenal gland ap- peared to be grossly normal. The lipoma in the abdominal wall was also removed.
The postoperative course was uneventful. The patient received a brief course of corticosteroids; they were tapered rapidly without ill effect.
One year has elapsed since surgery, and there is no evidence of tumor recurrence.
On histologic grounds the tumor was thought to be an adrenocortical carcinoma. The adrenal vein was free of tumor. In several areas tumor cells appeared to infiltrate but not penetrate the tumor capsule. The tumor in the abdominal wall was a lipoma.
DISCUSSION
This patient represents the tenth reported case of adrenocortical tumor associated with hemihypertrophy. Additional findings in the present case include a “horseshoe” kidney, an abdominal wall lipoma, and a small hemangioma.
Of the nine cases previously reported, eight presented with symptoms of endocrinopathy (Cushing’s syndrome or precocious puber- ty).3-9 One case10 presented with a palpable abdominal mass and obesity, without other signs of Cushing’s syndrome. In our patient, the tumor was nonfunctioning and not pal- pable. An intravenous pyelogram was ob- tained because of the known association of hemihypertrophy and malignancy, and the tumor was thus discovered.
In reviewing all of the currently reported cases of hemihypertrophy associated with adrenocortical carcinoma, it would appear that those patients who had their tumors diagnosed at one year of age or under had a better prognosis than those in whom identi- fication was later in childhood. Three of four children over one year of age at the time of diagnosis died of metastases.3, 4, 6, 8 All six children one year of age or under at the time of diagnosis were reported as having no re- currence during follow-up periods ranging from one to four years.3, 5, 7, 9, 10 One of these patients later died of a second malig- nancy (Wilms’ tumor).5 This trend is in agreement with the findings of others,11 who have reported on the frequently benign na-
ture of embryonal tumors identified during early infancy.
Therefore, when an individual with hemi- hypertrophy is identified, an aggressive ap- proach toward tumor detection is merited, especially in early infancy. Such patients are at high risk for developing Wilms’ tumor, hepatoblastoma, and adrenocortical carci- noma, and their management should be di- rected toward early detection of these lesions. They should have quarterly visits to a physi- cian for measurement of growth parameters, abdominal palpation, and urinalysis. Intra- venous pyelograms should be obtained at least yearly during infancy.
REFERENCES
1. Fraumeni, J. F., Jr., Clementina, F. G., and Manring, M. D .: Wilms’ tumor and congenital hemihypertrophy: Report of five new cases and review of literature, Pediatrics 40: 886, 1967.
2. Fraumeni, J. F., Jr., Miller, R. W., and Hill, J. A .: Primary carcinoma of the liver in childhood: An epidemiologic study, J. Natl. Cancer Inst. 40: 1087, 1968.
3. Fraumeni, J. F., Jr., and Miller, R. W .: Adrenocortical neoplasms with hemihyper- trophy, brain tumors, and other disorders, J. PEDIATR. 70: 129, 1967.
4. Harwood, J., and O’Flynn, E .: Specimens from a case of right-sided hemihypertrophy associated with pubertas praecox, Proc. R. Soc. Med. 28: 837, 1935.
5. Riedel, H. A .: Adrenogenital syndrome in a male child due to adrenocortical tumor, Pedi- atrics 10: 19, 1952.
6. Benson, P. F., Vulliamy, D. G., and Taub- man, J. O .: Congenital hemihypertrophy and malignancy, Lancet 1: 468, 1963.
7. Copple, P. J., and Duncan, W. Y .: Congenital hemihypertrophy and adrenal carcinoma, Am. J. Dis. Child. 111: 420, 1966.
8. Grossman, H., and New, M .: Precocious sex- ual development: Roentgenographic aspects, Am. J. Radiol. Radium Ther. Nucl. Med. 100: 48, 1967.
9. Loridan, L., and Senior, B .: Cushing’s syn- drome in infancy, J. PEDIATR. 75: 349, 1969.
10. Weinstein, F. L., Kliman, G., Neeman, J., and Cohen, R. B .: Deficiency 17-hydroxylation in a corticosterone-producing adrenal tumor from an infant with hemihypertrophy and visceromegaly, J. Clin. Endocrinol. Metab. 30: 457, 1970.
11. Bolande, R. P .: Benignity of neonatal tumors and concept of cancer repression in early life, Am. J. Dis. Child. 122: 12, 1971.