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Hypertriglyceridemia in homozygous beta thalassemia
10 0 2
Letters to the Editor
adopted Vietnamese infant. A case of fuhninant disease with recovery, JAMA 230:1561, 1974. Neuman CG, Lawlor G J, Steihm R, et al: Immunologic responses in malnourished children, Am J Clin Nutr 28:98, 1975. Hughes T, Price BA, Sisko F, et al: Protein-calorie malnutrition. A host determinant for Pneumocystis carinii, Am J Dis Child 128:44, 1974.
Thyrotoxicosis in congenital rubella To the Editor: Hyperthyroidism is a rare disease in young children. Since the disorder is extremely uncommon under age 3,' the development of hyperthyroidism in a 3-year-old girl with proved congenital rubella caused us to reflect on a possible etiologic association.
The Journal of Pediatrics December 1975
Observations on this child, and on others with diabetes mellitns, 2 suggest that it may be appropriate to expand the "congenital rubella syndrome" to include certain endocrino_ pathic states. We hope that our description o f this patient may stimulate other investigators to search for similar cases, so that the issue of chance association or causal relationship can be clarified. Evaluation of this patient was initiated when the Rubella Project was a component of the Department o f Pediatrics of the New York University Medical Center-Bellevue Hospital Center. The authors wish to express their gratitude to Dr. Joshua Lynfield for referring the patient for evaluation, and to Drs. Raphael David and Cyril Abrams for consultation regarding the endocrine aspects of this case.
Philip R. Ziring, M.D. Barbara A. Fedun, P.H.N. Louis Z. Cooper, M.D. Rubella Project Pediatric Service The Roosevelt Hospital 428 West 59th St. New York, N. Y. 10019
CASE REPORT
This infant was born to an 18-year-old gravida 2, para 2, serology negative Negro woman after an uncomplicated prep.nancy. The mother had no known exposure to rubella. Birth weight was 5 pounds, 2 ounces, following a gestation o f 38 weeks. During the first week of life, a heart murmur was detected. Evaluation at that time also revealed intrauterine growth retardation, patent ductus arteriosus and ~ulmonary valve stenosis, and bilateral cataracts with microphthalmia. As time progressed, it became evident that the child was deaf and retarded. The rubella HI antibody titer was _> 4,096. Rubella specific IgM HI antibody was present at one month of age and the total serum IgM was elevated to 84 mg/dl. Rubella virus was isolated from a throat swab obtained at one month o f age. At 35 months of age, the child became increasingly irritable and unable to sleep at night. These symptoms were associated with excessive sweating, loss of scalp hair, and an appreciable lid lag. A firm symmetrical mass was palpable in the area o f the thyroid at the base of the neck. Thyroid function studies revealed a T4 of 15.6/~g/dl and T~ of 1,200 ng/dl. Thyroid-stimulating hormone was not detectable. Radioactive iodine uptake was 43% in four hours and 50% in 24 hours. At 5 years, 10 months, after a protracted course of medical management, the child became euthyroid, with normal pulse, absence of goiter, and some regression in degree of exophthalmos.
DISCUSSION Of more than 500 children still in active longitudinal follow-up by the Rubella Project, this is the only case of frank hyperthyroidism to be recognized to date. Fifty other children with congenital rubella and abnormal behavior have been screened for hyperthyroidism. Their serum T4 levels have been within the normal rang e .
The Rubella Project is supported, in part, by The National Foundation-March of Dimes (Grant No. C159), and the Health Research Council of the City o f New York (Contract No. U-2398).
REFERENCES
1. Werner SC, editor: The thyroid, New York, 1962, Harper & Row, Publishers. 2. Forrest JM, and Menser MA: High frequency of diabetes mellitus in young adults with congenital rubella, Lancet 2:332, 1971.
Hypertriglyceridemia in homozygous beta thalassemia To the Editor: Patients with thalassemia major usually have low or normal serum lipids; however, Rama Rao and associates 1 described two patients in whom hypertriglyceridemia was associated with this condition. This association of hypertriglyceridemia and homozygous beta thalassemia may occur more frequently than is suggested by the lack of published reports. CASE REPORT
An ll-month-old female infant was admitted to Reza Pahtavi Medical Center because o f pallor, weakness, and failure to thrive. The parents were nonconsanguineous, the pregnancy was uncomplicated, with delivery at term. The infant was breast fed, and there were no illnesses during infancy. Pallor and weakness were first noticed at age 9 months. Physical examination revealed a very pale infant who was unable to sit. The bodyweight, length, and head circumference were all below the third percentile for these measurements. A systolic murmur Grade II/VI was present; the spleen was just palpable. There was clinical and
Volume 87 Number 6, part I
Letters to the Editor
Table I. S e r u m lipid m e a s u r e m e n t s
Patient - (11 mo) Normal diet Low-fat diet Father - (27 yr) Mother - (18 yr)
Serum cholesterol (mg/dl)
Serum triglycerides (mg/dl)
110 154 158 158
633 200 103 83
10 03
mechanisms involved in this causal relationship remain unexplained. Morad R. Ameri, M.D. M. Alebouyeh, M.D. M. Ziai, M.D. Departments' of Pediatrics and Pediatric Hematology Reza Pahlavi Medical Center Tehran, Iran Rex B. Corm, M.D. Department of Laboratory Medicine The Johns Hopkins Hospital Baltimore, M d 21205 REFERENCES
radiologic evidence of right hip joint subluxation. Ocular fundi were normal. Laboratory data. The hemoglobin was 4.4 gm/dl, hematocrit 12.5%, red blood cells 1,440,000/mm ~, and reticulocyte count 3%. The peripheral blood smear revealed anisocytosis, poikilocytosis, hypochromia, target ceils, polychromasia, and many nucleated red cells (60/100 white blood ceils). The direct Coombs test was negative; erythrocyte glucose-6-phosphate dehydrogenase activity was normal. Serum iron was 93 and total iron-binding capacity 317/~gm/dl. The bone marrow showed marked erythroid hyperplasia With normal myelo- and thrombopoiesis. No foam ceils were observed. A test for Heinz bodies was negative. The fetal hemoglobin elution test ~ revealed abundant numbers of hemoglobin F containing cells. Hemoglobin electrophoresis on cellulose acetate ~ separated two major anodic bands, identified as hemoglobin A1 and hemoglobin F. There was also a minor band consisting of hemoglobin A2. Hemoglobin F constituted 65% of the total hemoglobin as determined by alkali denaturation. 9 Hematologic examination of the parents indicated both had heterozygous beta thalassemia. The patient's serum had a creamy appearance; lipid studies were done with the patient on a normal and on a low-fat diet (20% of daily caloric requirement provided by fat). Serum triglycerides were elevated with the patient on a normal diet. They became normal after the child had received a low-fat diet for eight days (Table I). An intravenous heparin test (8 units heparin/kg body weight) was carried out 17 days after reinstitution of a normal diet. A reduction in serum triglycerides from 272 to 32 mg/dl occurred within 10 minutes after heparin administration. DISCUSSION Hypertriglyceridemia in a patient with thalassemia major might be a coincidence or might be secondary to the severe anemia seen in untreated patients. Normal serum lipid studies in the parents as well as the disappearance of the creamy layer and decrease in serum triglycerides after institution of a low-fat diet are suggestive of type I hyperlip.oproteinemia. Administration of heparin intravenously tO the propositns, however, lowered the plasma triglycerides significantly in a short time, proving the presence oflipoprotein l!pase. This suggests the secondary nature of the hypertriglyceridemia in our patient. Follow-up studies after multiple blood transfusions to maintain the hemoglobin level at about 10 gm/dI showed nearly normal serum triglycerides. These observations indicate that the hypertriglyceridemia was due to chronic, severe anemia, although the pathologic
1.
2.
3.
4.
Rama Rao AVSS, Indira BK, and Ramanujiah D: Hypertriglyceridemia in thalassemia major, J Indian Med Assoc 59:15, 1972. Betke K, and Sanguansermsri T. Zytologische Blutfarbstoffdifferenzierung, Munch Med Wochenschr 114:I099, 1972. Kohne Von E, Alebouyeh M, and Kleihauer E: Electrophoretischer Nachweis normaler und anormaler Haemoglobine, Fortschr Med 91:100, 1973. Singer K, Chernoff AI, and Singer L: Studies on abnormal hemoglobins. 1. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation, Blood 6:413, 1951.
Myositis associated with influenza A infection To the Editor: Mason and Keller 1 reported acute transient myositis associated with an influenza B epidemic, but viral studies were not done in the children they observed. They proposed an "association between influenza a n d acute transient myositis." We have recently observed a child who had acute myositis in whom an influenza A viral infection was documented by viral isolation and serology. CASE REPORT
Patient R. C., a 2 6/12-year-old black male, was admitted because of refusal to walk of one day's duration. One day prior tO admission, he had nasal congestion, rhinorrhea, and fever, but he was ambulatory. There was no history of trauma, abdominal pain, or urinary or fecal incontinence. The admission temperature was 39~ he was moderately irritable, had painful calf muscles, and refused to support his weight or walk. There was no rash, lumbosacral tenderness,
From the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and The Divisions of Infectious Diseases and Neurology at St. Louis Children's Hospital. Supported in part by United States Public Health Service Grant No NS-05633 and the Allen P. and Josephine B. Green Foundation, Mexico, Mo.
Letters to the Editor
adopted Vietnamese infant. A case of fuhninant disease with recovery, JAMA 230:1561, 1974. Neuman CG, Lawlor G J, Steihm R, et al: Immunologic responses in malnourished children, Am J Clin Nutr 28:98, 1975. Hughes T, Price BA, Sisko F, et al: Protein-calorie malnutrition. A host determinant for Pneumocystis carinii, Am J Dis Child 128:44, 1974.
Thyrotoxicosis in congenital rubella To the Editor: Hyperthyroidism is a rare disease in young children. Since the disorder is extremely uncommon under age 3,' the development of hyperthyroidism in a 3-year-old girl with proved congenital rubella caused us to reflect on a possible etiologic association.
The Journal of Pediatrics December 1975
Observations on this child, and on others with diabetes mellitns, 2 suggest that it may be appropriate to expand the "congenital rubella syndrome" to include certain endocrino_ pathic states. We hope that our description o f this patient may stimulate other investigators to search for similar cases, so that the issue of chance association or causal relationship can be clarified. Evaluation of this patient was initiated when the Rubella Project was a component of the Department o f Pediatrics of the New York University Medical Center-Bellevue Hospital Center. The authors wish to express their gratitude to Dr. Joshua Lynfield for referring the patient for evaluation, and to Drs. Raphael David and Cyril Abrams for consultation regarding the endocrine aspects of this case.
Philip R. Ziring, M.D. Barbara A. Fedun, P.H.N. Louis Z. Cooper, M.D. Rubella Project Pediatric Service The Roosevelt Hospital 428 West 59th St. New York, N. Y. 10019
CASE REPORT
This infant was born to an 18-year-old gravida 2, para 2, serology negative Negro woman after an uncomplicated prep.nancy. The mother had no known exposure to rubella. Birth weight was 5 pounds, 2 ounces, following a gestation o f 38 weeks. During the first week of life, a heart murmur was detected. Evaluation at that time also revealed intrauterine growth retardation, patent ductus arteriosus and ~ulmonary valve stenosis, and bilateral cataracts with microphthalmia. As time progressed, it became evident that the child was deaf and retarded. The rubella HI antibody titer was _> 4,096. Rubella specific IgM HI antibody was present at one month of age and the total serum IgM was elevated to 84 mg/dl. Rubella virus was isolated from a throat swab obtained at one month o f age. At 35 months of age, the child became increasingly irritable and unable to sleep at night. These symptoms were associated with excessive sweating, loss of scalp hair, and an appreciable lid lag. A firm symmetrical mass was palpable in the area o f the thyroid at the base of the neck. Thyroid function studies revealed a T4 of 15.6/~g/dl and T~ of 1,200 ng/dl. Thyroid-stimulating hormone was not detectable. Radioactive iodine uptake was 43% in four hours and 50% in 24 hours. At 5 years, 10 months, after a protracted course of medical management, the child became euthyroid, with normal pulse, absence of goiter, and some regression in degree of exophthalmos.
DISCUSSION Of more than 500 children still in active longitudinal follow-up by the Rubella Project, this is the only case of frank hyperthyroidism to be recognized to date. Fifty other children with congenital rubella and abnormal behavior have been screened for hyperthyroidism. Their serum T4 levels have been within the normal rang e .
The Rubella Project is supported, in part, by The National Foundation-March of Dimes (Grant No. C159), and the Health Research Council of the City o f New York (Contract No. U-2398).
REFERENCES
1. Werner SC, editor: The thyroid, New York, 1962, Harper & Row, Publishers. 2. Forrest JM, and Menser MA: High frequency of diabetes mellitus in young adults with congenital rubella, Lancet 2:332, 1971.
Hypertriglyceridemia in homozygous beta thalassemia To the Editor: Patients with thalassemia major usually have low or normal serum lipids; however, Rama Rao and associates 1 described two patients in whom hypertriglyceridemia was associated with this condition. This association of hypertriglyceridemia and homozygous beta thalassemia may occur more frequently than is suggested by the lack of published reports. CASE REPORT
An ll-month-old female infant was admitted to Reza Pahtavi Medical Center because o f pallor, weakness, and failure to thrive. The parents were nonconsanguineous, the pregnancy was uncomplicated, with delivery at term. The infant was breast fed, and there were no illnesses during infancy. Pallor and weakness were first noticed at age 9 months. Physical examination revealed a very pale infant who was unable to sit. The bodyweight, length, and head circumference were all below the third percentile for these measurements. A systolic murmur Grade II/VI was present; the spleen was just palpable. There was clinical and
Volume 87 Number 6, part I
Letters to the Editor
Table I. S e r u m lipid m e a s u r e m e n t s
Patient - (11 mo) Normal diet Low-fat diet Father - (27 yr) Mother - (18 yr)
Serum cholesterol (mg/dl)
Serum triglycerides (mg/dl)
110 154 158 158
633 200 103 83
10 03
mechanisms involved in this causal relationship remain unexplained. Morad R. Ameri, M.D. M. Alebouyeh, M.D. M. Ziai, M.D. Departments' of Pediatrics and Pediatric Hematology Reza Pahlavi Medical Center Tehran, Iran Rex B. Corm, M.D. Department of Laboratory Medicine The Johns Hopkins Hospital Baltimore, M d 21205 REFERENCES
radiologic evidence of right hip joint subluxation. Ocular fundi were normal. Laboratory data. The hemoglobin was 4.4 gm/dl, hematocrit 12.5%, red blood cells 1,440,000/mm ~, and reticulocyte count 3%. The peripheral blood smear revealed anisocytosis, poikilocytosis, hypochromia, target ceils, polychromasia, and many nucleated red cells (60/100 white blood ceils). The direct Coombs test was negative; erythrocyte glucose-6-phosphate dehydrogenase activity was normal. Serum iron was 93 and total iron-binding capacity 317/~gm/dl. The bone marrow showed marked erythroid hyperplasia With normal myelo- and thrombopoiesis. No foam ceils were observed. A test for Heinz bodies was negative. The fetal hemoglobin elution test ~ revealed abundant numbers of hemoglobin F containing cells. Hemoglobin electrophoresis on cellulose acetate ~ separated two major anodic bands, identified as hemoglobin A1 and hemoglobin F. There was also a minor band consisting of hemoglobin A2. Hemoglobin F constituted 65% of the total hemoglobin as determined by alkali denaturation. 9 Hematologic examination of the parents indicated both had heterozygous beta thalassemia. The patient's serum had a creamy appearance; lipid studies were done with the patient on a normal and on a low-fat diet (20% of daily caloric requirement provided by fat). Serum triglycerides were elevated with the patient on a normal diet. They became normal after the child had received a low-fat diet for eight days (Table I). An intravenous heparin test (8 units heparin/kg body weight) was carried out 17 days after reinstitution of a normal diet. A reduction in serum triglycerides from 272 to 32 mg/dl occurred within 10 minutes after heparin administration. DISCUSSION Hypertriglyceridemia in a patient with thalassemia major might be a coincidence or might be secondary to the severe anemia seen in untreated patients. Normal serum lipid studies in the parents as well as the disappearance of the creamy layer and decrease in serum triglycerides after institution of a low-fat diet are suggestive of type I hyperlip.oproteinemia. Administration of heparin intravenously tO the propositns, however, lowered the plasma triglycerides significantly in a short time, proving the presence oflipoprotein l!pase. This suggests the secondary nature of the hypertriglyceridemia in our patient. Follow-up studies after multiple blood transfusions to maintain the hemoglobin level at about 10 gm/dI showed nearly normal serum triglycerides. These observations indicate that the hypertriglyceridemia was due to chronic, severe anemia, although the pathologic
1.
2.
3.
4.
Rama Rao AVSS, Indira BK, and Ramanujiah D: Hypertriglyceridemia in thalassemia major, J Indian Med Assoc 59:15, 1972. Betke K, and Sanguansermsri T. Zytologische Blutfarbstoffdifferenzierung, Munch Med Wochenschr 114:I099, 1972. Kohne Von E, Alebouyeh M, and Kleihauer E: Electrophoretischer Nachweis normaler und anormaler Haemoglobine, Fortschr Med 91:100, 1973. Singer K, Chernoff AI, and Singer L: Studies on abnormal hemoglobins. 1. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation, Blood 6:413, 1951.
Myositis associated with influenza A infection To the Editor: Mason and Keller 1 reported acute transient myositis associated with an influenza B epidemic, but viral studies were not done in the children they observed. They proposed an "association between influenza a n d acute transient myositis." We have recently observed a child who had acute myositis in whom an influenza A viral infection was documented by viral isolation and serology. CASE REPORT
Patient R. C., a 2 6/12-year-old black male, was admitted because of refusal to walk of one day's duration. One day prior tO admission, he had nasal congestion, rhinorrhea, and fever, but he was ambulatory. There was no history of trauma, abdominal pain, or urinary or fecal incontinence. The admission temperature was 39~ he was moderately irritable, had painful calf muscles, and refused to support his weight or walk. There was no rash, lumbosacral tenderness,
From the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and The Divisions of Infectious Diseases and Neurology at St. Louis Children's Hospital. Supported in part by United States Public Health Service Grant No NS-05633 and the Allen P. and Josephine B. Green Foundation, Mexico, Mo.