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W. BERARDINELLI, AN UNDIAGNOSED ENDOCRINOMETABOLIC SYNDROME: REPORT OF 2 CASES, The Journal of Clinical Endocrinology & Metabolism, Volume 14, Issue 2, 1 February 1954, Pages 193–204, https://doi.org/10.1210/jcem-14-2-193
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Abstract
WE HAVE observed 2 cases of a syndrome which does not seem to fit into any of the known clinical pictures.
The main features of this syndrome are an acromegaloid gigantism, hepatosplenomegaly, fatty infiltration of the liver, hyperlipemia, hyperproteinemia, and disturbed carbohydrate metabolism.
Case 1. M.C., a 6-year-old white boy (Figs. 1, 2, 3, 4 and 5—A) (Fig. 6), was seen first in January 1952 and again in June 1952.
The outstanding feature was a marked hepatosplenomegaly, first noticed by the family physician when the boy was 21/2 years old. Previous development apparently had been normal, but at that time he had appeared for treatment of a month-long diarrhea and great prostration. During the next six months, his appetite had been excellent, perhaps even exaggerated, and there was no polydipsia. Since then, the patient had been in relatively good health, except for the abdominal protrusion, large joints, and the presence of evening pyrexia.