We report a case of a 34 year old right
handed woman seen at 29 weeks' gestation who
suffered from apnoea of unknown aetiology. This
pregnancy, as well as her first gestation, was
complicated by generalised oedema and high blood
pressure. Starting at week 25, her husband
noticed she had developed intermittent brief
periods of apnoea only while sleeping, which
lasted as long as one minute but of variable
duration. Her husband awakened her each time she
had a protracted episode of apnoea. She was
asymptomatic while awake. In the 29th week she
suffered a more severe apnoea. She was intubated
in the field and taken to the hospital for an
emergency caesarean section. There was no
spontaneous labour. Inability to breathe
spontaneously persisted for two weeks postpartum
and a neurological consultation was
requested.
On initial evaluation blood pressure was
140/90 and the heart rate was 90 beats/min. The
neurological examination revealed upbeat
nystagmus of small amplitude in the primary
position which did not change with upward or
downward gaze. She had lack of spontaneous
breathing. She was fully awake and cooperative,
sitting up in bed with no assistance. While
intubated she had an obvious cough reflex but
the gag reflex was not formally tested. Tongue
examination showed normal movement and power
with no evidence of atrophy or fasciculation.
Otherwise, cranial nerve and sensorimotor
examinations were entirely normal. There was
normal tone, with downgoing plantar reflexes and
no evidence of other pyramidal findings. There
was no record of arrhythmia.
No yawning, vomiting, or hiccups were
present during the examination and they were not
seen by nursing staff. It was of interest that
this patient had suffered from apnoea presenting
immediately after her first vaginal delivery two
years previously. This was treated with
intubation and resolved spontaneously with
successful extubation approximately four hours
later. Magnetic resonance imaging of the brain,
brain stem, and cervical spinal cord was carried
out, and showed a Chiari malformation with
tonsillar herniation at C2 level and a cervical
syrinx. After posterior cranial fossa
decompression the patient recovered spontaneous
breathing and was off any ventilatory support
within six hours. She and her child have been
followed for two years following this event. She
remains in good health with normal
polysomnographic testing.
COMMENT
Ondine's curse is a rare form of central
respiratory failure which includes severe sleep
apnoea (1). We describe the case of recurrent
sleep apnoea associated with pregnancy and
delivery and related to a Chiari malformation
that became symptomatic only during pregnancy.
We hypothesise that the generalised oedema that
occurred during pregnancy, with a potentially
mild increase in intracranial pressure, produced
dysfunction of central chemoreceptors or the
respiratory integrative system of the brain
stem. Additionally there may have been
compression of the lower cranial nerves,
impairing input from peripheral
chemoreceptors(2). Related to this, our patient
suffered severe sequelae from a central
malformation that was previously clinically
inapparent.
Although Ondine's curse has rarely
occasionally described in patients with Chiari
malformation(3), the expression of secondary
sleep apnoea uniquely during pregnancy has not
been reported before. Finally we wish to
highlight the complete recovery of this patient
after posterior fossa decompression, as we found
in another published case (4).
Correspondence to: Dr Juan
Ochoa-Sepulveda;
jjos@telefonica.net
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experiments of nature
Ravé Moss I.
The Canadian Journal of
Neurological Sciences
2005; 32; 3;
287-297
Departments of Pediatrics
and Physiology, McGill University and McGill
University Health Centre Research Institute,
Montreal Children's Hospital and, Montreal
Children's Hospital Research Institute,
Montreal, Quebec, Canada
Abstract: The purpose of this review
is to demonstrate that respiration is a complex
behavior comprising both brainstem autonomic
control and supramedullary influences, including
volition. Whereas some fundamental mechanisms
had to be established using animal models, this
review focuses on clinical cases and
physiological studies in humans to illustrate
normal and abnormal respiratory behavior.
To summarize, central respiratory drive is
generated in the rostroventrolateral medulla,
and transmitted to both the upper airway and to
the main and accessory respiratory muscles.
Afferent feedback is provided from lung and
muscle mechnoreceptors, peripheral carotid and
aortic chemoreceptors, and multiple central
chemoreceptors. Supramedullary regions,
including cortex and subcortex, modulate or
initiate breathing with volition, emotion and at
the onset of exercise. Autonomic breathing
control can be perturbed by brainstem pathology
including space occupying lesions, compression,
congenital central hypoventilation syndrome and
sudden infant death syndrome. Sleep-wake states
are important in regulating breathing.
Thus, respiratory control abnormalities are
most often evident during sleep, or during
transition from sleep to wakefulness. Previously
undiagnosed structural brainstem pathology may
be revealed by abnormal breathing during sleep.
Ondine's
curse and 'the locked-in syndrome' serve to
distinguish brainstem from supramedullary
regulatory mechanisms in humans: The former
comprises loss of autonomic respiratory control
and requires volitional breathing for survival,
and the latter entails loss of corticospinal or
corticobulbar tracts required for volitional
breathing, but preserves autonomic respiratory
control.
Résumé: Contrôle
et comportement respiratoire chez l'humain :
leçons tirées de l'imagerie et des
expériences naturelles. Le but de cette
revue est de démontrer que la respiration
est un acte complexe impliquant un
contrôle neuro-végétatif
provenant du tronc cérébral et des
influences supramédullaires, entre autres
la volonté. Alors que les
mécanismes fondamentaux ont dû
être établis grâce à
des modèles animaux, cette revue est
axée sur des cas cliniques et des
études physiologiques chez l'humain afin
d'illustrer le comportement respiratoire normal
et anormal.
En résumé, la stimulation
respiratoire centrale origine de la moelle
rostro-ventro-latérale et elle est
transmise aux voies aériennes
supérieures et aux muscles respiratoires
principaux et accessoires. La rétroaction
afférente provient de
mécanorécepteurs pulmonaires et
musculaires, de chémorécepteurs
périphériques à la carotide
et à l'aorte et de multiples
chémorécepteurs centraux. Des
régions supramédullaires
corticales et sous-corticales jouent un
rôle dans la modulation ou le
déclenchement de la respiration par la
volonté, l'émotion et en
début d'exercice. Le contrôle
neuro-végétatif de la respiration
peut être perturbé par une
pathologie du tronc cérébral, soit
par une lésion expansive, une
compression, le syndrome congénital
d'hypoventilation alvéolaire central et
le syndrome de la mort subite du nourrisson. Les
états de sommeil et d'éveil sont
importants dans la régulation de la
respiration. Des anomalies du contrôle
respiratoire sont plus souvent évidentes
pendant le sommeil ou pendant la période
de transition du sommeil à
l'éveil. Une respiration anormale pendant
le sommeil peut révéler une
pathologie structurale du tronc
cérébral encore non
détectée.
Le syndrome
d'Ondine et le syndrome de
déefférentation motrice (locked-in
syndrome) distinguent les mécanismes
régulateurs du tronc
cérébral des mécanismes
supramédullaires chez l'humain: les
premiers comportent une perte du contrôle
respiratoire neuro-végétatif et la
survie dépend alors de la respiration
volontaire et les derniers impliquent la perte
des voies corticospinales ou corticobulbaires
nécessaires à la respiration
volontaire, mais préservent le
contrôle respiratoire
neurovégétatif.
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