Correspondence

Medical Mystery Answer: Male Infant with Unusual Weight Gain and Rash

N Engl J Med 2005; 352:1047-1048March 10, 2005

Article

To the Editor:

The medical mystery in the January 20 issue1 involved a seven-month-old boy who had congenital Cushing's syndrome and a severe acneiform rash (Figure 1AFigure 1A Male Infant with Unusual Weight Gain and a Rash.), with growth of pubic hair. The child's motor development was grossly delayed. Computed tomography of the abdomen showed a solid mass in the region of the left adrenal gland (Figure 1B). The child's plasma cortisol level was elevated, at 44 mg per deciliter (normal range, 5 to 23), and the testosterone level was 6.06 ng per milliliter (normal range, 0.04 to 0.48). Histologic examination of the mass after excision showed an adrenal adenoma. At four and a half years of age, the child was healthy, and his psychomotor development corresponded to his age (Figure 1C).

Hans Hartmann, M.D.
Urs Schumacher, M.D.
Kantonsspital Muensterlingen, CH-8596 Muensterlingen, Switzerland

1 References

1
Hartmann H, Schumacher U. A medical mystery. N Engl J Med 2005;352:273-273
Full Text | Web of Science | Medline

Editor's note:

There were 1188 responses submitted from 72 countries. Sixty-seven percent of the respondents suggested abnormalities consistent with Cushing's syndrome; of this group, 11 percent specifically diagnosed Cushing's disease, which this boy did not have, and 8 percent suggested a variety of exogenous sources of cortisol (such as topical cream used for the rash or from maternal use passed to the baby in breast milk). Cushing's syndrome refers to the clinical consequences of excess cortisol, whereas Cushing's disease — a specific cause of excess cortisol — is due to a pituitary adenoma and is named in recognition of the neurosurgeon, Dr. Harvey Cushing, who first described the syndrome and related it to a pituitary lesion. These conditions are discussed in the Case Records that appear elsewhere in this issue of the Journal.1

Many alternative diagnoses were suggested. Eight percent of the respondents suggested other endocrinopathies (such as the hypothyroidism, leptin deficiency, and excess growth hormone), 14 percent suggested a variety of congenital syndromes (such as the Prader–Willi syndrome), and 9 percent suggested various other conditions (such as the nephrotic syndrome and overfeeding). Two percent of the respondents suggested maternal illness as the diagnosis, such as gestational diabetes. Many insightful comments were received from readers, including this one from Alisa McQueen: “This infant's history of weight gain, moon facies, acneiform eruption, and hypertension suggests the presence of excess cortisol.”

Lindsey R. Baden, M.D.

1 References