Rett’s Syndrome with Questioned Management
Published
May 25, 2016
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Abstract
Rett syndrome (RS) is a neurodegenerative disorder characterized by initial normal
evolution, with clinical characteristic of neuroregresión, an incidence of 1: 10,000 in
girls, this syndrome is considered one of the most common genetics diseases of cognitive
impairment in women. We report the case of a girl of four years old with clinical features of developmental regression, stereotyped
movements, compatible with Rett syndrome,
which her mother is giving 2 drops of oil of
marijuana like therapy. At present there are no
studies to recommend the medical use of marijuana
in Rett syndrome; treatment is symptomatic
and supportive, requiring an interdisciplinary
group of management
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.
How to Cite
Giraldo Ospina, G. A., & Espinosa García, E. (2016). Rett’s Syndrome with Questioned Management. Universitas Medica, 57(1), 123–131. https://doi.org/10.11144/Javeriana.umed57-1.rett
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Section
Case Reports