Rett syndrome

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

Encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.


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PMID (PMCID)
25565401
 MIXED_SAMPLE
Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.
Bertossi C, Cassina M, Cappellari A, Toldo I, Nosadini M, Rigon C, Suppiej A, Sartori S.
Neuropediatrics. 2015;46(1):56-64.
14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome.
24328834
 FEMALE
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
Venkateswaran S, McMillan HJ, Doja A, Humphreys P.
Dev Med Child Neurol. 2014;56(1):91-4.
In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males.
21293276
 MIXED_SAMPLE Infant
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
Bartnik M, Derwinska K, Gos M, Obersztyn E, Kolodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczynska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P.
Genet Med. 2011;13(5):447-52.
The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype.
18477000
 MALE Infant, Newborn
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
Schule B, Armstrong DD, Vogel H, Oviedo A, Francke U.
Clin Genet. 2008;74(2):116-26.
Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT).
16122633
 MALE Child
Classic Rett syndrome in a boy with R133C mutation of MECP2.
Masuyama T, Matsuo M, Jing JJ, Tabara Y, Kitsuki K, Yamagata H, Kan Y, Miki T, Ishii K, Kondo I.
Brain Dev. 2005;27(6):439-42.
About 80% of female patients with Rett syndrome (RTT) display a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, but most males with MECP2 mutation experience severe fatal encephalopathy or non-specific X-linked mental retardation (XLMR).
11913564
 MIXED_SAMPLE Infant, Newborn
Rett syndrome: clinical manifestations in males with MECP2 mutations.
Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, Shomrat R, Orr-Urtreger A.
J Child Neurol. 2002;17(1):20-4.
We describe an Israeli family consisting of a female having classic Rett syndrome and a male sibling with severe neonatal encephalopathy.
11473472
 FEMALE Adult
Colonic lymphoid hyperplasia in melanosis coli.
Pearce CB, Martin H, Duncan HD, Goggin PM, Poller DN.
Arch Pathol Lab Med. 2001;125(8):1110-2.
We describe the case of a patient with Rett syndrome, a syndrome characterized by progressive infant encephalopathy, developmental delay, dementia, autism, ataxia, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation.
9620015
 MALE Infant, Newborn
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
Schanen NC, Kurczynski TW, Brunelle D, Woodcock MM, Dure LS 4th, Percy AK.
J Child Neurol. 1998;13(5):229-31.
We identified two boys in families with recurrent Rett syndrome who had encephalopathies with neonatal onset and who may represent the phenotype of males harboring Rett syndrome mutations.
9620015
 MALE Infant, Newborn
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
Schanen NC, Kurczynski TW, Brunelle D, Woodcock MM, Dure LS 4th, Percy AK.
J Child Neurol. 1998;13(5):229-31.
We identified two boys in families with recurrent Rett syndrome who had encephalopathies with neonatal onset and who may represent the phenotype of males harboring Rett syndrome mutations.