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Our results indicate that generalized lipodystrophy (GLD) possesses as one of its manifestations, diencephalic neuroendocrinopathy. It has been postulated that deranged hypothalamic catecholaminergic mechanisms lead to the hypersecretion of hypophysiotrophic hormones that are detectable in the peripheral circulation. Initial treatment of a pre-puberal GLD patient with chlorpromazine was unrewarding. Chronic treatment of the same patients with the selective dopaminergic blocking agent, pimozide, eliminated corticotrophin releasing factor and luteinizing hormone releasing factor activities from the general circulation. Pimozide treatment ameliorated most of the distorted blood chemistry profile, led to return of facial subcutaneous fat, and elimination of cutaneous hyperpigmentation, fever, abdominal pain, hypertrichosis, oilness of hair, scaliness of skin and to a state of general well-being.The results of these studies, structured within the framework of our present knowledge concerning hypothalamic neurotransmitter/releasing hormone physiology, support the concept of diencephalic involvement in GLD and may provide a guideline to effective therapy.

The escalating number of blood specimens from late-fed premature or very sick newborns greatly increases the risk of missing the diagnosis of phenylketonuria (PKU). Babies receiving antibiotics have uninterpretable "clear-zone" results with the traditional Guthrie bacteriologic inhibition assay (BIA). For the past year the authors have reexamined the blood phenylalanine level on specimens giving the "clear-zone" effect by BIA by use of the McCaman-Robins chemical-fluorescent assay (CFA). Spuriously high blood phenylalanine levels occurred in four babies who were receiving ampicillin and whose specimens were collected on filter paper and autoclaved in preparation for the BIA. None of the babies proved to have PKU. The fluorescent interference caused by ampicillin resulted from the heat of autoclaving the specimen. The authors recommend that the blood specimen should not be autoclaved before analysis by either BIA or CFA.

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