Manifestações neuropsicomotoras da doença de Huntington juvenil
sinais e sintomas e achados de imagem
DOI:
https://doi.org/10.11606/issn.1679-9836.v98i6p408-414Palavras-chave:
Doença de Huntington, Infantil, Juvenil, Transtornos cognitivos, Adolescente, CriançaResumo
A Doença de Huntington Juvenil (DHJ) consiste na neurodegeneração de células nervosas causada pela formação da proteína alterada denominada huntingtina, acumulada no citoplasma e núcleo de neurônios, capaz de gerar morte progressiva destas células de forma mais evidente no corpo estriado, que engloba os núcleos caudado e putâmen. A variante juvenil da Doença de Huntington manifesta-se em pacientes com idades entre 0 a 20 anos, com variedade de distúrbios motores, cognitivos e comportamentais. Com o objetivo de estudar os mais prevalentes sinais, sintomas e achados de imagem, bem como as manifestações iniciais e a evolução sintomatológica ao decorrer da doença, foi realizada uma revisão integrativa de literaturas, incluindo o total de 25 artigos selecionados após a adequação de critérios de exclusão e inclusão. Após a análise dos dados, concluiu-se que os sintomas mais destacados foram rigidez muscular, disartria, convulsões, bradicinesia e disfunções cognitivas e comportamentais. Em se tratando de achados de imagem, prevaleceram atrofia de núcleos da base e cerebelo em pacientes com a doença mais avançada e diagnosticados em tempo maior.
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Referências
1. Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, et al. Biological and clinical manifestations of juvenile Huntington’s disease: a retrospective analysis. Lancet Neurol. 2018;17(11):986-93. doi: 10.1016/S1474-4422(18)30294-1.
2. Nicolas G, Devys D, Goldenberg A, Maltête D, Hervé C, et al. Juvenile Huntington disease in a 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. Am J Med Genet A. 2011;155A(4):815-8. doi: 10.1002/ajmg.a.33911.
3. Luis Enrique ME, Jorge Luis O, Yuri T, Yaseth A, Harry P. Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso. Arch Argent Pediatr 2014;112(1):e23-e26. doi: http://dx.doi.org/10.5546/aap.2014.e23.
4. Emilia MG, Virgínia P, José Luiz E, Ana S, Lorena X, et al. Juvenile Huntington disease in Argentina. Arq Neuropsiquiatr (São Paulo). 2016;74(1):50-4. doi: 10.1590/0004-282X20150192.
5. Wojaczyńska-Stanek K, Adamek D, Marszał E, Hoffman-Zacharska D. Huntington disease in a 90-year-old boy: clinical course and neuropathologic examination. J Child Neurol. 2006;21(12):1068-73. doi: 10.1177/7010.2006.00244.
6. Yoon G1, Kramer J, Zanko A, Guzijan M, Lin S, et al. Speech and language delay are early manifestations of juveniline-onset Huntington disease. Neurology. 2006;67(7):1265-7. doi: 10.1212/01.wnl.0000238390.86304.4e.
7. Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol. 2006;21(3):223-9. doi: 10.2310/7010.2006.00055.
8. Mariana T, Valeria G. Manifestaciones psiquiatricas em enfermedad de Huntington de inicio infantil. Med Infantil. 2015;22(3):243-8. Disponível em: http://www.medicinainfantil.org.ar/images/stories/volumen/2015/xxii_3_243.pdf.
9. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin Genet. 2003 Jul;64(1):70-3. doi: https://doi.org/10.1034/j.1399-0004.2003.00108.x
10. Sunwoo JS, Lee ST, Kim M. A case of juvenile Huntington disease in a 6-yar-old boy. J Mov Disord. 2010;3(2):45-7. doi: 10.14802/jmd.10012.
11. Heloísa HR, Iscia LG, Tiago LL, Li ML, Fernando C. Clinical presentation of juvenile Huntington disease. Arq Neuropsiquiatr (São Pulo). 2006;64(1):5-9. doi: http://dx.doi.org/10.1590/S0004-282X2006000100002.
12. Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, et al. Neuropathological comparison of adult onset and juvenile Huntington’s disease with cerebellar atrophy: a report of a father and son. J Huntingtons Dis. 2017;6(4):337-48. doi: 10.3233/JHD-170261.
13. Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, et al. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Arch Neurol. 2007;64(6):813-9. doi: 10.1001/archneur.64.6.813.
14. Grabska N, Rudzińska M, Wójcik-Pędziwiatr M, Michalski M, Sławek J, et al. Saccadic eye movements in juvenile variant of Huntington disease. Neurol Neurochir Pol. 2014;48(4):236-41. doi: 10.1016/j.pjnns.2014.06.003.
15. Quigley J. Juvenile Huntington’s disease: diagnostic and treatment considerations for the psychiatrist. Curr Psychiatry Rep. 2017;19(2):9. doi: 10.1007/s11920-017-0759-9.
16. Patra KC, Shirolkar MS. Childhood-onset (juvenile) Huntington’s disease: a rare case report. J Pediatr Neurosci. 2015; 10: 276-9. doi: 10.4103/1817-1745.165709.
17. Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, et al. Seizures in juvenile Huntington’s disease: frequency an characterization in a multicenter cohort. Mov Disord. 2012;27(14):1797-800. doi: 10.1002/mds.25237.
18. Hedjoudje A, Nicolas G, Goldenberg A, Vanhulle C, Dumant-Forrest C, Deverrière G, et al. Morphological features in juvenile Huntington disease associated with cerebellar atrohpy – magnetic resonance imaging morphometric analysis. Pediatr Radiol. 2018;48(10):1463-71. doi: 10.1007/s00247-018-4167-z.
19. Jessica KL, Kathy M, Bradley S, et al. Measures of growth in children at risk for Huntington disease. Neurology. 2012;79;668. doi: 10.1212/WNL.0b013e3182648b65.
20. Gilberto L, Maria Eduarda N, Vinicius TC, Salmo R, Eliasz E. Juvenile Huntington’s disease confirmed by genetic examination in twins. Arq Neuropsiquiatr. 1999;57(3-B):867-9. doi: http://dx.doi.org/10.1590/S0004-282X1999000500022.
21. Schapiro M, Cecil KM, Doescher J, Kiefer AM, Jones BV. MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol. 2004;34(8):640-3. doi: 10.1007/s00247-004-1159-y.
22. Antonio PV, Francisco CA, Desine B, Carolina CV, Carmela DB, et al. Unusual early-onset Huntingtons disease. J Child Neurol. 2003;18(6):429-32. doi: 10.1177/08830738030180061301
23. Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington’s disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psychiatry. 2012;34(4):436.e9-11. doi: 10.1016/j.genhosppsych.2012.02.008.
24. Cui SS, Ren RJ, Wang Y, Wang G, Chen SD. Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review. BMC Neurol. 2017;17(1):152. doi: 10.1186/s12883-017-0923-1.
25. Monrad P, Renaud DL. Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 2013;48(4):333-4. doi: 10.1016/j.pediatrneurol.2012.12.023.
2. Nicolas G, Devys D, Goldenberg A, Maltête D, Hervé C, et al. Juvenile Huntington disease in a 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. Am J Med Genet A. 2011;155A(4):815-8. doi: 10.1002/ajmg.a.33911.
3. Luis Enrique ME, Jorge Luis O, Yuri T, Yaseth A, Harry P. Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso. Arch Argent Pediatr 2014;112(1):e23-e26. doi: http://dx.doi.org/10.5546/aap.2014.e23.
4. Emilia MG, Virgínia P, José Luiz E, Ana S, Lorena X, et al. Juvenile Huntington disease in Argentina. Arq Neuropsiquiatr (São Paulo). 2016;74(1):50-4. doi: 10.1590/0004-282X20150192.
5. Wojaczyńska-Stanek K, Adamek D, Marszał E, Hoffman-Zacharska D. Huntington disease in a 90-year-old boy: clinical course and neuropathologic examination. J Child Neurol. 2006;21(12):1068-73. doi: 10.1177/7010.2006.00244.
6. Yoon G1, Kramer J, Zanko A, Guzijan M, Lin S, et al. Speech and language delay are early manifestations of juveniline-onset Huntington disease. Neurology. 2006;67(7):1265-7. doi: 10.1212/01.wnl.0000238390.86304.4e.
7. Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol. 2006;21(3):223-9. doi: 10.2310/7010.2006.00055.
8. Mariana T, Valeria G. Manifestaciones psiquiatricas em enfermedad de Huntington de inicio infantil. Med Infantil. 2015;22(3):243-8. Disponível em: http://www.medicinainfantil.org.ar/images/stories/volumen/2015/xxii_3_243.pdf.
9. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin Genet. 2003 Jul;64(1):70-3. doi: https://doi.org/10.1034/j.1399-0004.2003.00108.x
10. Sunwoo JS, Lee ST, Kim M. A case of juvenile Huntington disease in a 6-yar-old boy. J Mov Disord. 2010;3(2):45-7. doi: 10.14802/jmd.10012.
11. Heloísa HR, Iscia LG, Tiago LL, Li ML, Fernando C. Clinical presentation of juvenile Huntington disease. Arq Neuropsiquiatr (São Pulo). 2006;64(1):5-9. doi: http://dx.doi.org/10.1590/S0004-282X2006000100002.
12. Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, et al. Neuropathological comparison of adult onset and juvenile Huntington’s disease with cerebellar atrophy: a report of a father and son. J Huntingtons Dis. 2017;6(4):337-48. doi: 10.3233/JHD-170261.
13. Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, et al. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Arch Neurol. 2007;64(6):813-9. doi: 10.1001/archneur.64.6.813.
14. Grabska N, Rudzińska M, Wójcik-Pędziwiatr M, Michalski M, Sławek J, et al. Saccadic eye movements in juvenile variant of Huntington disease. Neurol Neurochir Pol. 2014;48(4):236-41. doi: 10.1016/j.pjnns.2014.06.003.
15. Quigley J. Juvenile Huntington’s disease: diagnostic and treatment considerations for the psychiatrist. Curr Psychiatry Rep. 2017;19(2):9. doi: 10.1007/s11920-017-0759-9.
16. Patra KC, Shirolkar MS. Childhood-onset (juvenile) Huntington’s disease: a rare case report. J Pediatr Neurosci. 2015; 10: 276-9. doi: 10.4103/1817-1745.165709.
17. Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, et al. Seizures in juvenile Huntington’s disease: frequency an characterization in a multicenter cohort. Mov Disord. 2012;27(14):1797-800. doi: 10.1002/mds.25237.
18. Hedjoudje A, Nicolas G, Goldenberg A, Vanhulle C, Dumant-Forrest C, Deverrière G, et al. Morphological features in juvenile Huntington disease associated with cerebellar atrohpy – magnetic resonance imaging morphometric analysis. Pediatr Radiol. 2018;48(10):1463-71. doi: 10.1007/s00247-018-4167-z.
19. Jessica KL, Kathy M, Bradley S, et al. Measures of growth in children at risk for Huntington disease. Neurology. 2012;79;668. doi: 10.1212/WNL.0b013e3182648b65.
20. Gilberto L, Maria Eduarda N, Vinicius TC, Salmo R, Eliasz E. Juvenile Huntington’s disease confirmed by genetic examination in twins. Arq Neuropsiquiatr. 1999;57(3-B):867-9. doi: http://dx.doi.org/10.1590/S0004-282X1999000500022.
21. Schapiro M, Cecil KM, Doescher J, Kiefer AM, Jones BV. MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol. 2004;34(8):640-3. doi: 10.1007/s00247-004-1159-y.
22. Antonio PV, Francisco CA, Desine B, Carolina CV, Carmela DB, et al. Unusual early-onset Huntingtons disease. J Child Neurol. 2003;18(6):429-32. doi: 10.1177/08830738030180061301
23. Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington’s disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psychiatry. 2012;34(4):436.e9-11. doi: 10.1016/j.genhosppsych.2012.02.008.
24. Cui SS, Ren RJ, Wang Y, Wang G, Chen SD. Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review. BMC Neurol. 2017;17(1):152. doi: 10.1186/s12883-017-0923-1.
25. Monrad P, Renaud DL. Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 2013;48(4):333-4. doi: 10.1016/j.pediatrneurol.2012.12.023.
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Publicado
2019-11-27
Edição
Seção
Artigos de Revisão/Review Articles
Como Citar
Nogueira, L. A., Rocha, A. E. de O., Vasconcelos, L. M. de, Figueiredo Júnior, J. A. B. de, & Bragato, S. G. R. (2019). Manifestações neuropsicomotoras da doença de Huntington juvenil: sinais e sintomas e achados de imagem. Revista De Medicina, 98(6), 408-414. https://doi.org/10.11606/issn.1679-9836.v98i6p408-414
