DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20192790

Rett syndrome: a neurodevelopmental disorder

Setu Dagli, Arpita Thakker Adhikari, Mona Gajre

Abstract


Rett Syndrome is a rare genetic disorder caused by a mutation on the MECP2 gene on the X chromosome. It classically presents with neuroregression, loss of purposeful hand use, stereotypical involuntary hand wringing movements, an ataxic gait and acquired microcephaly with a large proportion of patients developing seizures. The authors present the case of a 3.5 year old girl with severe global developmental delay and regression, loss of purposeful hand use and an ataxic gait for 2 years and seizures since 5 days along with microcephaly with involuntary hand movements but no classic wringing movements with no significant findings on MRI and EEG and diagnosed with Rett Syndrome on the basis of genetic testing.


Keywords


Neuroregression, Microcephaly, MECP2 gene

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References


Rett A. On an unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr. 1966;116(37):723-6.

Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol. 1983;14(4):471-9.

Glaze DG. Neurophysiology of Rett syndrome. J Child Neurol. 2005 Sep;20(9):740-6.

Christodoulou J, Ho G. MECP2-Related Disorders. In: Adam MP, Ardinger HH, Pagon RA, JHL Bean, Stephens K. Amemiya A. GeneReviews®. Seattle:Seattle (WA): University of Washington; 1993-2019.

Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr. 2001;90(1):34-9.

Motil KJ, Schultz RJ, Wong WW, Glaze DG. Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome. J Pediatr. 1998;132(2):228-33.

Leonard H, Thomson MR, Glasson EJ, Fyfe S, Leonard S, Bower C, et al. A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol. 1999;41(5):323-8.

Hagberg B. Clinical manifestations and stages of Rett syndrome. Mental Retard Develop Disabilities Res Rev. 2002;8(2):61-5.

Kerr AM, Julu PO. Recent insights into hyperventilation from the study of Rett syndrome. Arch Dis Child. 1999;80(4):384-7

Berridge CW, Waterhouse BD. The locus coeruleus-noradrenergic system: Modulation of behavioural state and state-dependent cognitive processes. Brain Res Rev. 2003;42(1):33-84.

Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, et al. MECP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. 2001;56(11):1486-95.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75(6):1079-3.

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008;83(1):89-93.