In a patient with the Lesch-Nyhan syndrome we found decreased spinal fluid 5-hydroxyindole acetic acid (5-HIAA), the major metabolite of serotonin, and decreased homovanillic acid (HVA), the major metabolite of dopamine, indicating a decrease in monoamine metabolism. Administration of 5-hydroxytryptophan and carbidopa produced an increase in spinal fluid 5-HIAA, indicating that it might be possible to correct the serotonin deficiency in this syndrome, but there were no changes in the marked mental retardation and neurological deficits. Self-mutilation appeared to be suppressed by therapy but the effectiveness of the drugs decreased with time. There were also changes in the spinal fluid concentration of amino acids that might affect brain protein synthesis. These changes were corrected during administration of 5-hydroxytryptophan and carbidopa.
307 Judith L. Bader and Robert W. Miller. Clinical Eoidemioloav Branch. NCI. Bethesda. Marvland To clarify' the sugg;;ted l ink between chi ldhood leukemia and neurofibromatosis (NF), we ascertained 10 previously unreported cases at 6 medical centers including our own, almost doubling the 15 adequately documented cases in the literature. Among these 25, acute lymphoblastic leukemia (ALL) developed in 9 and various forms of myelogenous leukemia (non-ALL) in 16, incl udlng 8 with acute myelomonocytic and 4 with juvenile chronic myelogenous leukemia. The ALL:non-ALL ratio of 9:16 is quite different from the predominance of ALL in U.S. whltes. 4:l; Down's syndrome, 7:3; and ataxia-telangiectasia, 7:l. By contrast, only non-ALL has been reported in Fanconl's anemia or Bloom's syndrome. Each of these 4 heritable disorders with high r~s k of leukemia has characteristic though different chromosomal abnormalities, which may be involved in leukemogenesis. In the 25 NF cases cytogenetic studies were rarely made, an opportunity that should not be missed in the future. Varlatlons in the ALL:non-ALL ratio indlcate that host factors apparently Influence the form of leukemia that develops. To refine further the relation between NF and leukemia, the existing large collaborat ive oncology groups could provlde a) ful ler ascertainment of cases with details of physical findings and family histories, b) a denominator for estimating risk, c) cytochemical and immunological clarification of leukemic subtypes, and d) elucldatlon of possible variant cases excluded from this series (N-15) The majority of granulosa cell tumors cause feminization, although in a few women virilization has occurred. MacDonald et a1 (Obstet. Gynecol. 47:649. 1976) have recently documented that a post-menopausal woman with an androstenedione (A) producing ovarian adenocarcinoma became estrogenized as a result of extraglandular conversion of A to estrogens.A 4 year old girl with a small right sided granulosa cell tumor presented with rapidly progressing breast enlargement. vaginal bleeding, but without androgen dependent signs of precocity. Pre-operative plasma steroid determinations revealed: estradiol (E2) 62 pg/ml. estrone (El) 12 pg/ml. A 0.1 ng/ml, testosterone (T) 0.02 ng/ml. Serum LH was 0.1 and roso to 1.2 MIlJ/ml (LER 907) after LHRH.while FSH remained suppressed. ACTH stimulation caused no effect, but a single injection of human chorionic gonadotropin resulted in a 20-fold rise in T and A while El and Ep increments were only 2 to 4-fold. Very high androgen concentrations were also found in right ovarian venous samples (A 94, T 11. E2 2.55 and El 0.55 ng/ml). After tumor removal, plasma steroid levels returned to prepubertal values, breast size declined and LHRH caused an exaggerated FSH but normal prepubertal LH response. It is concluded that the absence of virilization in this girl with an androgen secreting granulosa cell tumor resulted from extraglandular conversion of androgens to estrogens. An athyreotic infant presented with hypothyroidism at ...
Two laboratory measurements~frequently made in the newborn period are Dextrostix (Ames) and hematocrit; yet the relationship between Dextrostix, plasm glucose and whole blood glucose values has not been described. Umbilical vein and peripheral vein blood samples were studied for vhole blood, plasm and red cell glucose (YSI Model 2 U ) and were compared to values obtained using the Dextrostix read by eye. Dextrostix predicted vhole blood glucose (R = .83, slope of regression = 1.1, not significantly different from 1.0).Plasma glucose was underestinvted by the Dextrostix (R = .64, slope = .70 in the range measured in viva (30-100 mg.dl-l).Measurements in vitro vere carried out using umbilical vein blood during incubation with and without added glucose to determine the relationship between plasm and whole blood glucose at the lower glucose levels. No statistically significant difference was observed between plasnv and whole blood glucose at these low levels. Dextrostix reflected both of these levels. No clinically significant error would have been made using the Dextrostix.In vivo, red cell glucose fell more quickly than plasma glu- Fatty acid levels and PG production were measured in blood from 40 test children with diabetes mellitus and 20 control children. Test children ranged from 3 to 19 years of age, had required insulin for at least 1 year and were considered well when tested as outpatients. Blood was drawn from all participants following a 10 to 12 hr overnight fast.The percent plasma FA'S varied in that stearic acid (18:O) levels were higher and oleic acid (18:1A9) levels lower in the diabetic compared to the control children. Quantitative levels (mg/dl) of most FA'S were elevated in the plasma of the diabeti children with total FA levels of 200 + 45 mg/dl compared to 174 + 27 mg/dl for the control children (p<.01). Red blood cell -FA'S and plasma and RBC phospholipids were similar in the 2 groups.Prostaglandin E2 and F2a levels (measured by radioinununoassay) were higher in the diabetic than in the control children following 10.20 or 70 minutes incubation of whole blood at 37OC whereas PGEl levels were higher only after 20 minutes incubation. Prostaglandin values did not correlate with 24 hr urine sugars or fasting blood sugars. The elevated PG levels may be related to the increased blood coagulation and/or the kidney or eye complications associated with diabetes mellitus. RINARY H+EXCRETION IN VERY LOW BIRTHWEIGHT(VLBW)The amount of integumentary calcium loss has been generally considered very small and therefore, has rarely been included in calcium metabolic studies. During our study of calcium and protein metabolism, two conditions of integumentary calcium loss were measured. The first, collected over a six-day period represented dermal loss by an ambulatory but rather sedentary man. The second was collected over a 40 minute period of strenous exercise The daily loss of 16 subjects in 52 determination of six-day periods each was 8.7 + 1.9 mg/m2/day. The amount was not influenced by calcium intake (0.1...
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