Síndrome de Rett con un manejo cuestionado
Publicado
may 25, 2016
Almetrics
Dimensions
Google Scholar
##plugins.themes.bootstrap3.article.details##
Resumen
El síndrome de Rett es un trastorno neurodegenerativo, caracterizado por una evolución normal inicial, con un cuadro clínico característico de neurorregresión, con una incidencia de 1:10.000 niñas. Es considerado una de las enfermedades genéticas más comunes de déficit cognitivo en las mujeres. Se presenta el caso de una niña de 4 años de edad con un cuadro clínico de regresión del desarrollo, movimientos estereotipados, compatible con síndrome de Rett, a la cual la madre como terapia le está administrando 2 gotas de aceite de marihuana. En la actualidad no hay estudios que recomienden el uso medicinal de la marihuana en el síndrome de Rett, pues el tratamiento es sintomático y de apoyo, y requiere un equipo de manejo interdisciplinario.
Keywords
Rett’s syndrome, regression, developmental disabilities, medical marijuanasíndrome de Rett, regresión, discapacidades del desarrollo, marihuana medicinal
References
1. Leonard H, Bower C, English D. The
prevalence and incidence of Rett syndrome
in Australia. Eur Child Adolesc Psychiatry.
1997;6 Suppl 1:8-10.
2. Laurvick CL, de Klerk N, Bower C,
Christodoulou J, Ravine D, Ellaway C,
Williamson S, Leonard H. Rett syndrome
in Australia: a review of the epidemiology.
J Pediatr. 2006;148:347-52.
3. Chahrour M, Zoghbi HY. The story of
Rett syndrome: from clinic to neurobiology.
Neuron. 2007;56(3):422-37.
4. Hagberg B, Hanefeld F, Percy A, Skjeldal
O. An update on clinically applicable
diagnostic criteria in Rett syndrome.
Comments to Rett Syndrome Clinical
Criteria Consensus Panel Satellite to European
Paediatric Neurology Society
Meeting, Baden Baden, Germany, 11
September 2001. Eur J Paediatr Neurol.
2002;6(5):293-7.
5. Rett A. [On a unusual brain atrophy
syndrome in hyperammonemia in
childhood]. Wien Med Wochenschr.
1966;116(37):723-6.
6. Einspieler C, Kerr AM, Prechtl HF. Is
the early development of girls with Rett
disorder really normal? Pediatr Res.
2005;57(5 Pt 1):696-700.
7. Einspieler C, Kerr AM, Prechtl HF. Abnormal
general movements in girls with
Rett disorder: the first four months of life.
Brain Dev. 2005;27 Suppl 1:S8-S13.
8. Wan M, Lee SS, Zhang X, et al. Rett
syndrome and beyond: recurrent spontaneous
and familial MECP2 mutations
at CpG hotspots. Am J Hum Genet.
1999;65:1520-9.
9. Orrico A, Lam C, Galli L, et al. MECP2
mutation in male patients with non-specific
X-linked mental retardation. FEBS
Lett. 2000;481:285-8.
10. Clayton-Smith J, Watson P, Ramsden S,
Black GC. Somatic mutation in MECP2
as a non-fatal neurodevelopmental disorderin
males. Lancet. 2000;356:830-2.
11. Orrico A, Lam C, Galli L, et al. MECP2
mutation in male patients with non-specific
X-linked mental retardation. FEBS
Lett. 2000;481:285-8.
12. Neul JL, Kaufmann WE, Glaze DG, et
al. Rett syndrome: revised diagnostic
criteria and nomenclature. Ann Neurol.
2010;68:944-50.
13. Plioplys AV, Kasnicka I. L-carnitine as a
treatment for Rett syndrome. South Med
J. 1993;86:1411-12.
14. Ellaway C, Williams K, Leonard H,
Higgins G, Wilcken B, Christodoulou J.
Rett syndrome: randomized controlled
trial of L-carnitine. J Child Neurol.
1999;14:162-7.
15. Ellaway CJ, Peat J, Williams K, Leonard
H, Christodoulou J. Medium-term
open label trial of L-carnitine in Rett
syndrome. Brain Dev. 2001;23(suppl
1):S85-9.
16. Egger J, Hofacker N, Schiel W, Holthausen
H. Magnesium for hyperventilation in
Rett’s syndrome. Lancet.1992;340:621-2.
17. McArthur AJ, Budden SS. Sleep dysfunction
in Rett syndrome: a trial of exogenous
melatonin treatment. Dev Med
Child Neurol. 1998;40:186-92.
18. Budden SS. Management of Rett syndrome:
a ten year experience. Neuropediatr.
1995;26:75-7.
19. Sekul EA, Moak JP, Schultz RJ, Glaze
DG, Dunn JK and Percy AK. Electrocardiographic
findings in Rett syndrome: an explanation for sudden death. J Pediatr.
1994;125:80-2.
20. American Psychiatric Association. Autism
spectrum disorder. En: Diagnostic
and statistical manual of mental disorders.
5th ed. Arlington, VA: American
Psychiatric Association; 2013. p. 50.
21. Christodoulou J, Ho G. MECP2-related
disorders. En: Pagon RA, Adam MP, Ardinger
HH, et al., editors. GeneReviews®
[Internet]. Seattle (WA): University of
Washington; 2001 [citado 2012 Jun 28].
Disponible en: http://www.ncbi.nlm.nih.
gov/books/NBK1497/
22. Bostwick JM, Reisfield GM, DuPont RL.
Clinical decisions: medicinal use of marijuana.
N Engl J Med. 2013;368:866-8.
23. Turcotte D, Le Dorze JA, Esfahani F, et
al. Examining the roles of cannabinoids
in pain and other therapeutic indications:
a review. Expert Opin Pharmacother.
2010;11:17-31.
24. Hadland SE, Knight JR, Harris SK. Medical
marijuana: review of the science and
implications for developmental-behavioral
pediatric practice. J Dev Behav Pediatr.
2015;36(2):115-23.
prevalence and incidence of Rett syndrome
in Australia. Eur Child Adolesc Psychiatry.
1997;6 Suppl 1:8-10.
2. Laurvick CL, de Klerk N, Bower C,
Christodoulou J, Ravine D, Ellaway C,
Williamson S, Leonard H. Rett syndrome
in Australia: a review of the epidemiology.
J Pediatr. 2006;148:347-52.
3. Chahrour M, Zoghbi HY. The story of
Rett syndrome: from clinic to neurobiology.
Neuron. 2007;56(3):422-37.
4. Hagberg B, Hanefeld F, Percy A, Skjeldal
O. An update on clinically applicable
diagnostic criteria in Rett syndrome.
Comments to Rett Syndrome Clinical
Criteria Consensus Panel Satellite to European
Paediatric Neurology Society
Meeting, Baden Baden, Germany, 11
September 2001. Eur J Paediatr Neurol.
2002;6(5):293-7.
5. Rett A. [On a unusual brain atrophy
syndrome in hyperammonemia in
childhood]. Wien Med Wochenschr.
1966;116(37):723-6.
6. Einspieler C, Kerr AM, Prechtl HF. Is
the early development of girls with Rett
disorder really normal? Pediatr Res.
2005;57(5 Pt 1):696-700.
7. Einspieler C, Kerr AM, Prechtl HF. Abnormal
general movements in girls with
Rett disorder: the first four months of life.
Brain Dev. 2005;27 Suppl 1:S8-S13.
8. Wan M, Lee SS, Zhang X, et al. Rett
syndrome and beyond: recurrent spontaneous
and familial MECP2 mutations
at CpG hotspots. Am J Hum Genet.
1999;65:1520-9.
9. Orrico A, Lam C, Galli L, et al. MECP2
mutation in male patients with non-specific
X-linked mental retardation. FEBS
Lett. 2000;481:285-8.
10. Clayton-Smith J, Watson P, Ramsden S,
Black GC. Somatic mutation in MECP2
as a non-fatal neurodevelopmental disorderin
males. Lancet. 2000;356:830-2.
11. Orrico A, Lam C, Galli L, et al. MECP2
mutation in male patients with non-specific
X-linked mental retardation. FEBS
Lett. 2000;481:285-8.
12. Neul JL, Kaufmann WE, Glaze DG, et
al. Rett syndrome: revised diagnostic
criteria and nomenclature. Ann Neurol.
2010;68:944-50.
13. Plioplys AV, Kasnicka I. L-carnitine as a
treatment for Rett syndrome. South Med
J. 1993;86:1411-12.
14. Ellaway C, Williams K, Leonard H,
Higgins G, Wilcken B, Christodoulou J.
Rett syndrome: randomized controlled
trial of L-carnitine. J Child Neurol.
1999;14:162-7.
15. Ellaway CJ, Peat J, Williams K, Leonard
H, Christodoulou J. Medium-term
open label trial of L-carnitine in Rett
syndrome. Brain Dev. 2001;23(suppl
1):S85-9.
16. Egger J, Hofacker N, Schiel W, Holthausen
H. Magnesium for hyperventilation in
Rett’s syndrome. Lancet.1992;340:621-2.
17. McArthur AJ, Budden SS. Sleep dysfunction
in Rett syndrome: a trial of exogenous
melatonin treatment. Dev Med
Child Neurol. 1998;40:186-92.
18. Budden SS. Management of Rett syndrome:
a ten year experience. Neuropediatr.
1995;26:75-7.
19. Sekul EA, Moak JP, Schultz RJ, Glaze
DG, Dunn JK and Percy AK. Electrocardiographic
findings in Rett syndrome: an explanation for sudden death. J Pediatr.
1994;125:80-2.
20. American Psychiatric Association. Autism
spectrum disorder. En: Diagnostic
and statistical manual of mental disorders.
5th ed. Arlington, VA: American
Psychiatric Association; 2013. p. 50.
21. Christodoulou J, Ho G. MECP2-related
disorders. En: Pagon RA, Adam MP, Ardinger
HH, et al., editors. GeneReviews®
[Internet]. Seattle (WA): University of
Washington; 2001 [citado 2012 Jun 28].
Disponible en: http://www.ncbi.nlm.nih.
gov/books/NBK1497/
22. Bostwick JM, Reisfield GM, DuPont RL.
Clinical decisions: medicinal use of marijuana.
N Engl J Med. 2013;368:866-8.
23. Turcotte D, Le Dorze JA, Esfahani F, et
al. Examining the roles of cannabinoids
in pain and other therapeutic indications:
a review. Expert Opin Pharmacother.
2010;11:17-31.
24. Hadland SE, Knight JR, Harris SK. Medical
marijuana: review of the science and
implications for developmental-behavioral
pediatric practice. J Dev Behav Pediatr.
2015;36(2):115-23.
Cómo citar
Giraldo Ospina, G. A., & Espinosa García, E. (2016). Síndrome de Rett con un manejo cuestionado. Universitas Medica, 57(1), 123–131. https://doi.org/10.11144/Javeriana.umed57-1.rett
Número
Sección
Reportes de caso