A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke

Journal of Child Neurology

Volumn 18, Issue 11, 2003, Pages 800-802

  Butrum, Matthew W ^a   Williams, Linda S ^b   Golomb, Meredith R ^b,c  

^a ST VINCENT HOSPITAL   (United States)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c RILEY HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID; HEMOGLOBIN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MULTIVITAMIN; PREDNISONE;

ARTICLE; ATTENUATION; BLACKFAN DIAMOND ANEMIA; CASE REPORT; CEREBROVASCULAR ACCIDENT; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; ECHOCARDIOGRAPHY; ENCEPHALOMALACIA; FATALITY; GENE MUTATION; GENETICS; HEART ATRIUM SEPTUM DEFECT; HEMIPARESIS; HEMOGLOBIN DETERMINATION; HETEROZYGOSITY; HUMAN; INFANT; LABORATORY TEST; MALE; MIDDLE CEREBRAL ARTERY; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL MORBIDITY; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; STROKE; THROMBOCYTE COUNT; THROMBOEMBOLISM; THUMB; UROGENITAL TRACT MALFORMATION;

EID: 0347513291     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738030180111301     Document Type: Article

References (17)

1. Scher MS, Wiznitzer M, Bangert BA: Cerebral infarctions in the fetus and neonate: maternal-placental-fetal considerations. Clin Perinatol 2002;29:693-724.
2. Lynch JK, Nelson KB: Epidemiology of perinatal stroke. Curr Opin Pediatr 2001;13:499-505.
3. Ganesan V, Prengler M, McShane MA, et al: Investigation of risk factors in children with arterial ischemic stroke. Ann Neurol 2003;53:167-173.
4. Hartfield DS, Lowry NJ, Keene DL, Yager JY: Iron deficiency: A cause of stroke in infants and children. Pediatr Neurol 1997;16:50-53.
5. Willig T-N, Draptchinskaia N, Dianzani I, et al: Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression. Blood 1999;94:4294-4306.
6. Janov AJ, Leong T, Nathan DG, Guinan EC: Diamond-Blackfan anemia: Natural history and sequelae of treatment. Medicine 1996;75:77-87.
7. Costa LD, Willig T-N, Fixler J, et al: Diamond-Blackfan anemia. Curr Opin Pediatr 2001;13:10-15.
8. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC: Diamond-Blackfan anaemia in the U.K: Analysis of 80 cases from a 20-year birth cohort. Br J Haematol 1996;94:645-653.
9. Balkaran B, Char G, Morris JS, et al: Stroke in a cohort of patients with homozygous sickle cell disease. J Pediatr 1992;120:360-366.
10. Ohene-Frempong K: Stroke in sickle cell disease: Demographic, clinical, and therapeutic considerations. Semin Hematol 1991;28:213-219.
11. Merkel KH, Ginsberg PL, Parker JCJ, Post MJD: Cerebrovascular disease in sickle cell anemia: A clinical, pathological, and radiological correlation. Stroke 1978;9:45-52.
12. Ready WK, Lowry NJ: Anemia causing cerebral infarction in a child. Can Med Assoc J 1989;140:303-304.
13. Hart RG, Kanter MC: Hematologic disorders and ischemic stroke. A selective review. Stroke 1990;21:1111-1121.
14. Delorme MA, Burrows RF, Ofosu FA, Andrew M: Thrombin regulation in mother and fetus during pregnancy. Semin Thromb Hemost 1992;18:81-90.
15. Thuillier L, Chadefaux-Vekemans B, Bonnefont JP, et al: Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease? J Inherit Metab Dis 1998;21:812-822.
16. van der Put NM, van den Heuvel LP, Steegers-Theunissen RP, et al: Decreased methylene tetrahydrofolate reductase activity due to the 677C->T mutation in families with spina bifida offspring. J Mol Med 1996;74:691-694.
17. Fishman MA: Birth defects and supplemental vitamins. Curr Treat Options Neurol 2000;2:117-122.