Document Detail

Management of a severe forceful breather with Rett syndrome using carbogen.
MedLine Citation:
PMID:  16765005     Owner:  NLM     Status:  MEDLINE    
We have used a novel neurophysiological technique in the NeuroScope system in combination with conventional electroencephalography (EEG) to monitor both brainstem and cortical activity simultaneously in real-time in a girl with Rett syndrome. The presenting clinical features in our patient were severe sleep disturbances, irregular breathing in the awake state dominated by Valsalva's type of breathing followed by tachypnoea and very frequent attacks of seizures and vacant spells. Our novel neurophysiological data showed that the patient was a Forceful Breather according to the breathing categories in Rett syndrome. She had frequent abnormal spontaneous brainstem activation (ASBA) preceded by severe attacks of hypocapnoea, which was caused by a combination of Valsalva's type of breathing and tachypnoea and all these together were responsible for the seizures and non-epileptic vacant spells. The ASBA was not detectable in conventional EEG and there were no epileptiform changes in the EEG during the seizures and vacant spells caused by the hypocapnic attacks, therefore these were pseudo-seizures. The record of brainstem activity confirmed that these were autonomic events, a kind of "brainstem epilepsy". We successfully treated the sleep disturbance with Pipamperone, a 5-hydroxytryptophan antagonist of receptor type 2 and we prevented the severe hypocapnoea during Valsalva's type of breathing and during tachypnoea using carbogen (a mixture of 5% carbon dioxide and 95% oxygen), which we gave by inhalation. Our treatment drastically reduced the autonomic events, promoted whole night sleep and significantly improved the quality of life in our patient. She can now participate in normal family activity which was previously impossible before treatment.
Eric E J Smeets; Peter O O Julu; Dick van Waardenburg; Ingegerd Witt Engerström; Stig Hansen; Flora Apartopoulos; Leopold M G Curfs; Connie T R M Schrander-Stumpel
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-06-09
Journal Detail:
Title:  Brain & development     Volume:  28     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-09     Completed Date:  2006-12-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  625-32     Citation Subset:  IM    
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands.
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MeSH Terms
Antipsychotic Agents / therapeutic use
Blood Pressure / physiology
Brain Stem / drug effects,  physiopathology
Butyrophenones / therapeutic use
Carbon Dioxide / therapeutic use*
Child, Preschool
Electroencephalography / methods
Hypocapnia / drug therapy,  physiopathology
Oxygen / therapeutic use*
Radiation-Sensitizing Agents / therapeutic use*
Respiration Disorders / drug therapy*,  etiology
Retrospective Studies
Rett Syndrome / complications,  drug therapy*
Reg. No./Substance:
0/Antipsychotic Agents; 0/Butyrophenones; 0/Radiation-Sensitizing Agents; 124-38-9/Carbon Dioxide; 1893-33-0/pipamperone; 7782-44-7/Oxygen; 8063-77-2/carbogen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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