Radiographic appearance of the soft tissues in the diencephalic syndrome of infancy.

Abstract

The Diencephalic syndrome of infancy was first described in 1951 by Russell (12), who reported 5 cases in children with tumors in the region of the anterior hypothalamus. The syndrome, as he described it, consists of profound emaciation linked with initial growth acceleration and, in 4 of his 5 cases, with local motor activity and euphoria. Dods (5) in 1957 reported 4 more cases. Kagan (8) in 1958, Braun and Forney (3) in 1959, and Marie et al. (11) in 1961 each added a case. The infants were usually normal at birth, and muscular development seemed relatively unaffected. In spite of their marked emaciation, they appeared quite active and linear growth was usually within normal limits. Pallor was frequently present. A striking aspect of the appearance was the bright and alert expression and a certain degree of euphoria. Frequently no signs of central nervous system disease were present, and funduscopic and neurologic examinations were normal. At a later stage, signs of increased intracranial pressure often became manifest. Of particular radiologic interest is the marked decrease in the amount of subcutaneous tissue present. Four cases of this syndrome have been seen by the authors, in 3 of which tumor was found at operation or autopsy. In the fourth (Case II), the patient's parents refused operation but pneumoencephalographic evidence suggested the presence of tumor. Case Reports Case I: A year-old white boy was first admitted because of failure to gain weight, coughing, and vomiting. He had been seen previously in another hospital because of a suspicion of cystic fibrosis. A history of good food intake was obtained and there was no record of unusual stool losses. The child was the product of a normal, spontaneous full-term delivery; birth weight was 7 lb. 1 oz. Physical examination revealed a bright, alert, but irritable infant who was markedly cachectic. He weighed 15 lb., though his length was 31 in. He was considered retarded and a hand tremor and rotatory nystagmus were present bilaterally. Laboratory studies, including hemogram, urinalysis, spinal fluid analysis, glucose tolerance curve, vitamin A uptake determination, and estimation of stool fat with Sudan III staining technic, were all normal. Proteolytic activity was demonstrated in the stools. Films of the wrist showed complete absence of fat. An electroencephalogram revealed a normal deep-sleep pattern. A ventriculogram obtained two weeks after admission showed marked enlargement of the lateral ventricles. No air was recognized in the third ventricle or any distal portion of the ventricular system. Constant ventricular drainage, instituted a week later, resulted in rather marked improvement. One month after admission the ventricular drainage tube was removed; dye studies carried out from above showed no evidence of blockage. The infant was treated conservatively for another six weeks.