Rett syndrome

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

Dementia

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.


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PMID (PMCID)
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.
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.
8075419
 FEMALE Child
Auditory evoked potentials in Rett syndrome.
Stach BA, Stoner WR, Smith SL, Jerger JF.
J Am Acad Audiol. 1994;5(3):226-30.
This study was designed to assess auditory function in subjects with Rett syndrome, a rare neurologic disorder that is characterized by progressive symptoms of dementia, ataxia, respiratory disorder, and communication disorder.
8194560
 FEMALE Infant
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
Beekman RP, Hofstee N, Smeitink JA, Poll-The BT, Duran M.
Eur J Pediatr. 1994;153(4):264-6.
A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years.
1283671
 FEMALE Child
Rett syndrome in South Africa.
Moodley M.
Ann Trop Paediatr. 1992;12(4):409-15.
Rett syndrome is a fairly recently recognized neurodevelopmental disorder of unknown aetiology that affects exclusively girls in whom early development is apparently normal but by the age of 6-18 months autistic behaviour and dementia, apraxia of gait, stereotypic repetitive hand movements, seizures and deceleration of head growth occur.
1298942
 FEMALE
[Rett's syndrome: description of a case with abnormal respiratory pattern].
Pertile N, Vergerio A, Galliani E, Turrin A, Caddia V, Rasori E.
Pediatr Med Chir. 1992;14(6):647-50.
Rett' syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures.
2758549
 FEMALE
Anaesthesia and Rett syndrome: a case report.
Maguire D, Bachman C.
Can J Anaesth. 1989;36(4):478-81.
Rett syndrome is a neurological disorder of females characterized by dementia, autism, movement disorders and an abnormality of respiratory control.
3657039
 FEMALE
[Rett syndrome--case report].
Glaser D, Marx H, Pawlowitzki IH.
Klin Padiatr. 1987;199(4):307-8.
We report on a 13 years old girl with Rett syndrome (autism, dementia, ataxia and loss of purposeful hand use in girls).