To the Editor: The medical mystery in the January 20 issue1involved a seven-month-old boy who had congenital Cushing'ssyndrome and a severe acneiform rash (Figure 1A), with growthof pubic hair. The child's motor development was grossly delayed.Computed tomography of the abdomen showed a solid mass in theregion of the left adrenal gland (Figure 1B). The child's plasmacortisol level was elevated, at 44 mg per deciliter (normalrange, 5 to 23), and the testosterone level was 6.06 ng permilliliter (normal range, 0.04 to 0.48). Histologic examinationof the mass after excision showed an adrenal adenoma. At fourand a half years of age, the child was healthy, and his psychomotordevelopment corresponded to his age (Figure 1C).
Figure 1. A Male Infant with Unusual Weight Gain and a Rash.
Panel A shows the child at seven months of age, and Panel B the solid mass in the region of the left adrenal gland. After excision of the mass, the child was healthy, as pictured at four and a half years of age (Panel C).
Hartmann H, Schumacher U. A medical mystery. N Engl J Med 2005;352:273-273. [Free Full Text]
Editor's note: There were 1188 responses submitted from 72 countries.Sixty-seven percent of the respondents suggested abnormalitiesconsistent with Cushing's syndrome; of this group, 11 percentspecifically diagnosed Cushing's disease, which this boy didnot have, and 8 percent suggested a variety of exogenous sourcesof cortisol (such as topical cream used for the rash or frommaternal use passed to the baby in breast milk). Cushing's syndromerefers to the clinical consequences of excess cortisol, whereasCushing's disease — a specific cause of excess cortisol— is due to a pituitary adenoma and is named in recognitionof the neurosurgeon, Dr. Harvey Cushing, who first describedthe syndrome and related it to a pituitary lesion. These conditionsare discussed in the Case Records that appear elsewhere in thisissue of the Journal.1
Many alternative diagnoses were suggested. Eight percent ofthe respondents suggested other endocrinopathies (such as thehypothyroidism, leptin deficiency, and excess growth hormone),14 percent suggested a variety of congenital syndromes (suchas the Prader–Willi syndrome), and 9 percent suggestedvarious other conditions (such as the nephrotic syndrome andoverfeeding). Two percent of the respondents suggested maternalillness as the diagnosis, such as gestational diabetes. Manyinsightful comments were received from readers, including thisone from Alisa McQueen: "This infant's history of weight gain,moon facies, acneiform eruption, and hypertension suggests thepresence of excess cortisol."
Lindsey R. Baden, M.D.
References
Case Records of the Massachusetts General Hospital (Case 7-2005). N Engl J Med 2005;352:1025-1032. [Free Full Text]
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