Volume 92 Number 2
Editorial correspondence
CMV were negative during his initial work-up, as were those of his twin; the mother's titers were positive (1:32). CMV was never grown from urine of the twin or mother. We believe that he probably represents a postnatally acquired CMV infection with pneumonitis. Although these two cases lack precise evidence about how and when the CMV was acquired, the cinical course very much resembles that described by Whitley et aF in two infants with protracted penumonitis who had virologic, serologic, immunologic, and electron microscopic studies indicating CMV as a major causative factor. Although a similar evaluation for a possible infectious cause of the pulmonary disease may have been carried out by Hordof and co-workers, 1 this was not specifically mentioned. We suggest that the possibility of a perinatally acquired infection with an agent such as CMV should be considered when one is presented with an infant with chronic obstructive lung disease, even in the presence of an obviously significant structural cardiac defect and congestive heart failure. It should, however, not deter one from correcting the cardiac defect if medical measures fail. Lucille A. Lester, M.D. Clinical Associate, Instructor Pediatric Cardiology Rene A. Arcilla, M.D. Professor of Pediatrics Director of Pediatric Cardiology The University of Chicago Hospitals & Clinics 950 E. 59th St. Chicago, I L 60637
345
should be applied to all individuals who have streak gonads whether or not they are associated with other findings. The Turner syndrome should be used for those individuals who have the triad noted above. An individual can have gonadal dysgenesis without Turner syndrome and the causes can be either chromosomal or inherited in a Mendelian fashion. An individual who has a 45,X/46,XX mosaicism could have gonadal dysgenesis without short stature and the somatic abnormalities associated with Turner syndrome. The findings by Goldstein et al' tend to have even greater significance when viewed with this approach rather than confusing gonadal dysgenesis with Turner syndrome. Lawrence R. Shapiro, M.D. Director, Genetics Laboratory Letchworth Village Developmental Center Thiells, N Y 10984 Director, Medical Genetics Unit Westchester County Medical Center Valhalla, N Y REFERENCES
1. Goldstein ED, Kelly ET, Johanson AJ, and Blizzard RM: Gonadal dysgenesis with 45,XO/46,XX mosaicism demonstrated only in a streak gonad, J PEDIATR 90:604, 1977. 2. Simpson JL: Gonadal dysgenesis and abnormalities of the human sex chromosomes: Current status o f phenotypickaryotypic correlations, in Bergsma D, editor: Genetic forms ofhypogonadism: Miami Symposia Specialists, 1975, pp 23-59.
REFERENCES
1. Hordof AJ, Mellins RB, Gersony WM, and Steeg CN: Reversibility of chronic bostructive lung disease in infants following repair of ventricular septal defect, J PnmATR 9t1:187, 1977. 2. Whitley RJ, Brasfield D, Reynolds DW, Stagno S, Tiller RE, and Alford CA: Protracted pneumonitis in young infants associated with perinatally acquired cytomegaloviral infection, J PEDIATR 89:16, 1976.
Turner syndrome vs. gonadal dysgenesis To the Editor: The paper by Goldstein et al I demonstrating a 45,X/46,XX mosaicism exclusively in a streak gonad is extremely significant; however, their definition of gonadal dysgenesis as a "disorder characterized by a triad of sexual infantilism secondary to failure of ovarian development, short stature, and unusual somatic ~abnormalities" is confusing and not necessarily accurate. While I agree that patients with those features are said to have the Turner syndrome, I believe that gonadal dysgenesis and Turner syndrome should be differentiated. It has been suggested previously, 2 and I agree, that the term "gonadal dysgenesis"
Toxicity of caffeine To the Editor: I was most interested in the article by Dr. Sullivan 1 in a recent issue of THE JOURNAL, "Caffeine poisoning in an infant." He states, "The findings of hyperglycemia and ketonuria have not been previously observed with xanthine toxicity and may be attributed to a stress reaction." I should like to refer him to an article published in The Western Journal of Medicine by Dr. Dale Rowland and myself~ in January of 1976, which reported a 3-year-old child who ingested 78 mg/ kg of body weight of caffeine (25 No-Doz tablets). This child presented with coffee-ground emesis, alternating states of consciousness, palpitations, photophobia, muscle twitching, miosis, clammy extremities, 5% sugar in her urine by Clinitest and Labstix, as well as large amounts of acetone in her urine. In addition, she had mild glycosemia. Moreover, Von Oettingen ~ outlined the symptoms of acute caffeine poisoning as essentially the findings described in the child above. Boyd and associates4 reported polydipsia, polyuria, and glycosuria in experimental rats after high dose of chronic caffeine administration. However, they did not mention acetonuria. At any rate, I think the report was well worthwhile, in that with
Editorial correspondence
CMV were negative during his initial work-up, as were those of his twin; the mother's titers were positive (1:32). CMV was never grown from urine of the twin or mother. We believe that he probably represents a postnatally acquired CMV infection with pneumonitis. Although these two cases lack precise evidence about how and when the CMV was acquired, the cinical course very much resembles that described by Whitley et aF in two infants with protracted penumonitis who had virologic, serologic, immunologic, and electron microscopic studies indicating CMV as a major causative factor. Although a similar evaluation for a possible infectious cause of the pulmonary disease may have been carried out by Hordof and co-workers, 1 this was not specifically mentioned. We suggest that the possibility of a perinatally acquired infection with an agent such as CMV should be considered when one is presented with an infant with chronic obstructive lung disease, even in the presence of an obviously significant structural cardiac defect and congestive heart failure. It should, however, not deter one from correcting the cardiac defect if medical measures fail. Lucille A. Lester, M.D. Clinical Associate, Instructor Pediatric Cardiology Rene A. Arcilla, M.D. Professor of Pediatrics Director of Pediatric Cardiology The University of Chicago Hospitals & Clinics 950 E. 59th St. Chicago, I L 60637
345
should be applied to all individuals who have streak gonads whether or not they are associated with other findings. The Turner syndrome should be used for those individuals who have the triad noted above. An individual can have gonadal dysgenesis without Turner syndrome and the causes can be either chromosomal or inherited in a Mendelian fashion. An individual who has a 45,X/46,XX mosaicism could have gonadal dysgenesis without short stature and the somatic abnormalities associated with Turner syndrome. The findings by Goldstein et al' tend to have even greater significance when viewed with this approach rather than confusing gonadal dysgenesis with Turner syndrome. Lawrence R. Shapiro, M.D. Director, Genetics Laboratory Letchworth Village Developmental Center Thiells, N Y 10984 Director, Medical Genetics Unit Westchester County Medical Center Valhalla, N Y REFERENCES
1. Goldstein ED, Kelly ET, Johanson AJ, and Blizzard RM: Gonadal dysgenesis with 45,XO/46,XX mosaicism demonstrated only in a streak gonad, J PEDIATR 90:604, 1977. 2. Simpson JL: Gonadal dysgenesis and abnormalities of the human sex chromosomes: Current status o f phenotypickaryotypic correlations, in Bergsma D, editor: Genetic forms ofhypogonadism: Miami Symposia Specialists, 1975, pp 23-59.
REFERENCES
1. Hordof AJ, Mellins RB, Gersony WM, and Steeg CN: Reversibility of chronic bostructive lung disease in infants following repair of ventricular septal defect, J PnmATR 9t1:187, 1977. 2. Whitley RJ, Brasfield D, Reynolds DW, Stagno S, Tiller RE, and Alford CA: Protracted pneumonitis in young infants associated with perinatally acquired cytomegaloviral infection, J PEDIATR 89:16, 1976.
Turner syndrome vs. gonadal dysgenesis To the Editor: The paper by Goldstein et al I demonstrating a 45,X/46,XX mosaicism exclusively in a streak gonad is extremely significant; however, their definition of gonadal dysgenesis as a "disorder characterized by a triad of sexual infantilism secondary to failure of ovarian development, short stature, and unusual somatic ~abnormalities" is confusing and not necessarily accurate. While I agree that patients with those features are said to have the Turner syndrome, I believe that gonadal dysgenesis and Turner syndrome should be differentiated. It has been suggested previously, 2 and I agree, that the term "gonadal dysgenesis"
Toxicity of caffeine To the Editor: I was most interested in the article by Dr. Sullivan 1 in a recent issue of THE JOURNAL, "Caffeine poisoning in an infant." He states, "The findings of hyperglycemia and ketonuria have not been previously observed with xanthine toxicity and may be attributed to a stress reaction." I should like to refer him to an article published in The Western Journal of Medicine by Dr. Dale Rowland and myself~ in January of 1976, which reported a 3-year-old child who ingested 78 mg/ kg of body weight of caffeine (25 No-Doz tablets). This child presented with coffee-ground emesis, alternating states of consciousness, palpitations, photophobia, muscle twitching, miosis, clammy extremities, 5% sugar in her urine by Clinitest and Labstix, as well as large amounts of acetone in her urine. In addition, she had mild glycosemia. Moreover, Von Oettingen ~ outlined the symptoms of acute caffeine poisoning as essentially the findings described in the child above. Boyd and associates4 reported polydipsia, polyuria, and glycosuria in experimental rats after high dose of chronic caffeine administration. However, they did not mention acetonuria. At any rate, I think the report was well worthwhile, in that with
