Radiographic Appearance of the Soft Tissues in the Diencephalic Syndrome of Infancy

Russell's diencephalic syndrome of early childhood

“…The levels were, however, still above those expected in normal subjects. The effect of excess HGH production in this syndrome is not fully understood but it is probable that its described lipolytic action (Zierler and Rabinowitz, 1963) is, in part, responsible for dispersing subcutaneous fat, which Poznanski and Manson (1963) showed to be completely absent. Similar loss of subcutaneous fat is seen in other conditions of presumed diencephalic origin -namely, leprechaunism (Donohue and Uchida, 1954;Salmon and Webb, 1963), progeria (Schinz, Baensch, Friedl, and Uehlinger, 1952;Thomson and Forfar, 1950), and generalized lipodystrophy (Berardinelli, 1954;Seip and Trygstad, 1963;Fairney, Lewis, and Cottom, 1969).…”

Diencephalic Syndrome of Infantile Emaciation: Analysis of Literature and Report of Further 3 Cases

“…Investigations at an early stage are usually unhelpful. Several authors have commented on the complete absence of subcutaneous fat on soft tissue films of the limbs, and this may help to distinguish this syndrome from other causes of emaciation where a thin fat line is usually retained (Poznanski and Manson, 1963;Smith, Weinburg, and McAlister, 1965;Girdwood and Ross, 1969). CSF protein may be raised, but early in the disease will often be normal.…”

The Diencephalic Syndrome of Infancy

“…It arose from the anterior hypothala¬ mus in 18 of the 20 reported instances in which location was stated. Both of the ex¬ ceptions-an ependymoma 4 and an oligodendroglioma arising from the optic chiasm 3could presumably have caused pressure upon, or have extended into the hypothala¬ mus. In addition, Dods 3 recollected a case (which he did not report) of an astrocytoma arising in the cerebellar midline, which pro¬ duced an apparently identical clinical picture.…”