Rett syndrome

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

Hyperventilation

Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.


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PMID (PMCID)
15287421
 FEMALE Infant, Newborn
Fetal alcohol syndrome in association with Rett syndrome.
Zoll B, Huppke P, Wessel A, Bartels I, Laccone F.
Genet Couns. 2004;15(2):207-12.
Later, she developed distinctive features of RETT syndrome including loss of early acquired developmental skills and presented typical symptoms of RETT syndrome as reduction of communication skills, reduction of hand function, hyperventilation, and grinding of teeth.
15287421
 FEMALE Infant, Newborn
Fetal alcohol syndrome in association with Rett syndrome.
Zoll B, Huppke P, Wessel A, Bartels I, Laccone F.
Genet Couns. 2004;15(2):207-12.
Later, she developed distinctive features of RETT syndrome including loss of early acquired developmental skills and presented typical symptoms of RETT syndrome as reduction of communication skills, reduction of hand function, hyperventilation, and grinding of teeth.
11197898
 FEMALE Child
[Effect of diazepam on apnea attacks in a 6-year-old girl with Rett syndrome: a polysomnographic study].
Kurihara M, Kumagai K, Nakae Y.
No To Hattatsu. 2001;33(1):58-62.
We reported a 6-year-old girl with Rett syndrome with severe apnea attacks following hyperventilation during wakefulness for which oral diazepam, 1.5 mg per day, showed marked effect.
10737989
 FEMALE
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
Kim SJ, Cook EH Jr.
Hum Mutat. 2000;15(4):382-3.
The patient was not affected with microcephaly or hyperventilation, but had other features of Rett syndrome including severe mental retardation and symptoms of autistic disorder.
10051171
 FEMALE Child
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
Gustavsson P, Kimber E, Wahlstrom J, Anneren G.
Am J Med Genet. 1999;82(4):348-51.
The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.
9371483
 FEMALE Child
Insulin-dependent diabetes mellitus presenting with ketoalkalosis in Rett syndrome.
Cameron FJ, Hawkins KC, Khadilkar VV, Tasker RC, Preece MA.
Diabet Med. 1997;14(10):884-5.
This was felt to be due to an abnormal breathing pattern of hyperventilation punctuated by apnoeas which is associated with Rett syndrome.
8676601
 FEMALE
[Carnitine deficiency and carnitine therapy in a patient with Rett syndrome].
Plochl E, Sperl W, Wermuth B, Colombo JP.
Klin Padiatr. 1996;208(3):129-34.
Later on recurrent washing movements of the hands, hyperventilation and microcephaly were observed and the diagnosis of Rett syndrome was established.
3140736
 MIXED_SAMPLE Child
Hyperventilation in the awake state: potentially treatable component of Rett syndrome.
Southall DP, Kerr AM, Tirosh E, Amos P, Lang MH, Stephenson JB.
Arch Dis Child. 1988;63(9):1039-48.
Hyperventilation, which occurs in some patients with severe mental handicap, is a prominent feature in the histories of most girls with Rett syndrome but its mechanism and effects have not been established.
3140736
 MIXED_SAMPLE Child
Hyperventilation in the awake state: potentially treatable component of Rett syndrome.
Southall DP, Kerr AM, Tirosh E, Amos P, Lang MH, Stephenson JB.
Arch Dis Child. 1988;63(9):1039-48.
The hypocapnic alkalaemia and hypoxaemia resulting from hyperventilation may contribute to the cerebral impairment in Rett syndrome.