Three patients with typical "diencephalic syndrome" have been described. The clinical observation of an emaciated and pale, but remarkably bright, cheerful, and active infant with a normal or increased appetite and food intake should suggest the diagnosis. Physical findings are conspicuous by their absence, although mild nystagmus, tremor, or ataxia may occasionally be present. An elevated total eosinophil count and an elevated cerebrospinal fluid protein are important, though not invariable, features. Metopirone test coupled with ACTH-adrenal stimulation test indicate markedly reduced pituitary reserve. Diagnosis is confirmed by pneumoencephalography and biopsy.
It is likely that with increasing knowledge, the clinical spectrum of this syndrome will be broadened, and one might expect to find, on occasions, anorexia rather than increased appetite, lassitude rather than hyperactivity, irritability rather than euphoria, obesity rather than emaciation, and different combinations of all of these features.
The results of therapy with beam-directed cobalt irradiation are encouraging.
The longevity gene
Klotho
and its cerebrospinal fluid protein profiles as a modifier for Parkinson´s disease
