Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment |
Jae Hun Yun
(Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine)
Yong Hee Hong (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine) Go Hun Seo (3billion Inc.) Young-Lim Shin (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine) |
1 | Gutmann DH, Parada LF, Silva AJ, Ratner N. Neurofibromatosis type 1: modeling CNS dysfunction. J Neurosci 2012;32:14087-93. DOI |
2 | Nix JS, Blakeley J, Rodriguez FJ. An update on the central nervous system manifestations of neurofibromatosis type 1. Acta Neuropathol 2020;139:625-41. DOI |
3 | Huson SM. The neurofibromatoses: classification, clinical features and genetic counselling. Monogr Hum Genet 2008;16:1-20. |
4 | Hoefnagel D, Andrew ED, Mireault NG, Berndt WO. Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. N Engl J Med 1965;273:130-5. DOI |
5 | Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-70. DOI |
6 | Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2007;2:48. |
7 | Anderson LT, Ernst M, Davis SV. Cognitive abilities of patients with Lesch-Nyhan disease. J Autism Dev Disord 1992;22:189-203. DOI |
8 | Anderson LT, Ernst M. Self-injury in Lesch-Nyhan disease. J Autism Dev Disord 1994;24:67-81. DOI |
9 | Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014;13:834-43. DOI |
10 | Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol 2017;59:1112-6. DOI |
11 | Jinnah HA. HPRT1 disorders. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., eds. GeneReviews®. Seattle (WA): University of Washington, 2020. |
12 | Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Rev 2000;32:449-75. DOI |
13 | Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, et al.; Lesch-Nyhan Disease International Study Group. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006;129(Pt 5):1201-17. DOI |
14 | Jathar P, Panse AM, Jathar M, Gawali PN. Lesch-Nyhan syndrome: disorder of self-mutilating behavior. Int J Clin Pediatr Dent 2016;9:139-42. DOI |
15 | Bell S, Kolobova I, Crapper L, Ernst C. Lesch-Nyhan syndrome: models, theories, and therapies. Mol Syndromol 2016;7:302-11. DOI |
16 | Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, et al.; Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2014;137(Pt 5):1282-303. DOI |
17 | Pride NA, North KN. The cognitive profile of NF1 children: therapeutic implications. In: Upadhyaya M, Cooper D, eds. Neurofibromatosis type 1. Berlin: Springer, 2012;55-69. |
18 | Lehtonen A, Howie E, Trump D, Huson SM. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol 2013;55:111-25. DOI |
19 | Shofty B, Constantini S, Ben-Shachar S. Advances in molecular diagnosis of neurofibromatosis type 1. Semin Pediatr Neurol 2015;22:234-9. DOI |