Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Developmental regression

Loss of developmental skills, as manifested by loss of developmental milestones.


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PMID (PMCID)
30227938
 FEMALE
Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation.
Tani H, Ishikawa N, Kobayashi Y, Yamaoka S, Fujii Y, Kaneko K, Takahashi T, Kobayashi M.
Brain Dev. 2018;40(10):943-946.
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy.
27899087
(5129599)
 FEMALE
Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report.
Santosh PJ, Bell L, Lievesley K, Singh J, Fiori F.
BMC Pediatr. 2016;16(1):194.
Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression.
24795519
(4006212)
 FEMALE
The ironies of human mind: a case of Rett syndrome.
Chattopadhyay S, Arora R.
Ethiop J Health Sci. 2014;24(2):171-4.
Rett Syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands.
21802232
 FEMALE Child
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.
Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N.
Brain Dev. 2012;34(5):364-7.
We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features.
20142466
 MALE Infant
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.
Condie J, Goldstein J, Wainwright MS.
J Child Neurol. 2010;25(5):633-6.
Rett syndrome was originally described in females with a clinical phenotype of deceleration of head growth, abnormal hand movements, and developmental regression.
8985533
 FEMALE Child
Rett syndrome in Saudi Arabia: report of six patients.
al-Jarallah AA, Salih MA, al Nasser MN, al Zamil FA, al Gethmi J.
Ann Trop Paediatr. 1996;16(4):347-52.
Six girls (five Saudis and one Sudanese) aged between 3.5 and 12 years demonstrated the classic features of Rett syndrome (RS), including developmental regression with dementia, loss of acquired speech and hand function, and stereotypic hand movements.