Cases reported "Hypocapnia"

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1/3. Aggregated occurrence of sleep apnea syndrome in a family.

    We experienced a family in whom sleep apnea syndrome (SAS) was recognized in six members and habitual snoring in seven members among 26 subjects of four generations. In all members with snoring, the disorder was noticed before the age of 20. Hypercapnic response study showed normal findings, and ultrafast magnetic resonance image of the upper airway revealed that the obstruction of the upper airway occurred at the velopharyngeal portion during apneic episodes in all SAS-afflicted subjects. In this family, the similar craniofacial structural abnormalities were thought to cause the aggregated occurrences of the disorders at young ages, and obesity was regarded as a contributor for the aggravated symptoms.
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2/3. Management of a severe forceful breather with rett syndrome using carbogen.

    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.
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3/3. Upper airway obstruction during nasal intermittent positive-pressure hyperventilation in sleep.

    Episodes of apnoea for up to 1 min were observed in association with hypocapnia caused by passive nasal intermittent positive-pressure mechanical hyperventilation in 3 of 4 patients during sleep. Apnoea seemed to be caused by complete upper airways obstruction; we suggest that this finding was caused by active glottic closure. Avoidance of excessive hypocapnia during positive-pressure ventilation might help to avoid central-nervous-system mediated apnoeic episodes.
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