Case Report
Successful Tracheal Decannulation in a Child with Congenital Central Hypoventilation Syndrome
Denise Willis1, April Scribner1 and Supriya Jambhekar2*
11Respiratory Care Services, Arkansas Children’s Hospital, USA
2Department of Pediatrics-Division of Pediatric Pulmonary and Sleep Medicine, Arkansas Children’s Hospital, USA
*Corresponding author: Supriya Jambhekar, Department of Pediatrics- Division of Pediatric Pulmonary and Sleep Medicine, Arkansas Children’s Hospital, University of Arkansas for Medical Sciences, 1 Children’s Way, Slot 512-17, Little Rock, AR 72202, USA
Published: 07 Oct, 2017
Cite this article as: Willis D, Scribner A, Jambhekar S.
Successful Tracheal Decannulation
in a Child with Congenital Central
Hypoventilation Syndrome. Ann Clin
Case Rep. 2017; 2: 1439.
Abstract
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder that affects the automatic control of breathing. We report the case of a child with late presentation of CCHS at 2
years of age who initially failed noninvasive ventilation (NIV) and received a tracheostomy. Due to a
mild CCHS genotype, at 7 years of age it was felt she would be a candidate for tracheal decannulation
and NIV.
A stepwise approach to decannulation was utilized that included capping of the tracheostomy tube,
mask desensitization, NIV with capped tracheostomy and serial polysomnogram evaluations. She
was successfully decannulated and transitioned to NIV before 8 years of age. Although the process
we used proved effective in this case, more research is needed to standardize transition from invasive
to NIV and to establish firm criteria for tracheal decannulation in children with CCHS. Guidelines
for managing CCHS exist but best practices for decannulation are not available.
Keywords: Congenital central hypoventilation syndrome; Tracheostomy; Decannulation; Noninvasive ventilation; PHOX2B; 20/25 genotype
Introduction
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder affecting the
automatic control of breathing that was first described by Mellins et al. in 1970 [1]. Prevalence is
unknown due to under-diagnosis of mild cases [2]. CCHS is characterized by alveolar hypoventilation
primarily during sleep but may also occur while awake, and an impaired response to hypoxemia and
hypercarbia [2-4]. Symptoms typically manifest in infancy but can also present in older children as
well as adults [2,4].
A diagnosis of CCHS is based on clinical findings in the absence of primary pulmonary,
cardiac, neuromuscular disease or brainstem lesion and confirmed with paired-like homeobox 2B
(PHOX2B) genetic testing [2-7]. There are two types of PHOX2B mutations: polyalanine repeat
expansion mutations (PARMS) and non-polyalanine repeat expansion mutations (NPARMS), with
PARMS representing over 90% of cases [2-4]. The normal genotype is referred to as 20/20 whereas
PARMS produces genotypes of 20/24 – 20/33 [2,3]. Disorder in patients with genotypes 20/24 and
20/25 is the least severe and they typically need only nighttime ventilator support; in patients with
20/26 genotype, it varies depending upon activity level and patients with 20/27 - 20/33 genotypes
require continuous support[2-4]. Milder genotypes may present as a late onset condition and be
manifested after exposure to anesthesia, respiratory depressants or with severe respiratory infection
[2,4,8,9].
CCHS is a lifelong disorder that does not resolve spontaneously or respond to pharmacological
stimulants [2-4,6]. The level of required ventilator support depends on severity of the disorder.
Positive pressure ventilation can be administered by either tracheostomy or noninvasive interface.
In those requiring ventilatory support only at night, noninvasive ventilation (NIV) is preferred.
In younger children, NIV is often ineffective due to difficulty ensuring adequate ventilation. Once
the child is older, successful decannulation and transition to mask ventilation may be possible.
We present the case of an 8 year old female with CCHS who was successfully decannulated and
transitioned to NIV.
Case Presentation
A previously healthy 22 month old female with a history of difficult behavior was admitted to the hospital following a choking episode. The child had been eating
chicken nuggets when she began choking, became apneic and lost
consciousness. CPR was administered and by the time emergency
medical services arrived, spontaneous respirations had returned and
she was conscious. The child was admitted to the local hospital for
overnight monitoring and was observed to have desaturation and
cyanosis upon falling asleep. She was then transferred to a pediatric
facility.
No foreign body was observed with laryngoscopy and
bronchoscopy. However, tonsils and adenoids were enlarged so
they were removed. After the procedure she developed apnea and
desaturation which rapidly progressed to respiratory failure requiring
intubation and mechanical ventilation. She was later extubated to nasal
cannula and weaned to room air during the daytime. Desaturation
episodes in the 80% range were noted during sleep when the cannula
became inadvertently dislodged. The child was discharged home with
instructions to use oxygen by nasal cannula during sleep and monitor
with pulse oximeter. A polysomnogram (PSG) was scheduled and
was done at 2 years of age.
PSG results were abnormal with significant hypoventilation.
Off oxygen, the Apnea Hypopnea Index (AHI) was 6.6, average
oxygen saturation by pulse oximeter (SpO2) was 81-96% with the
lowest reading of 80%, and the average end-tidal carbon dioxide
(ETCO2) range was 57-61 mmHg with a highest recorded value of
65 mmHg. After adding ¼ liter per minute of oxygen, the AHI was
1.1, average SpO2 improved to 93-100% with a low of 82%, and the
ETCO2 averaged increased to 54-78 mmHg with a high of 83 mmHg.
Supplemental oxygen had been started due to desaturation but was
not increased because of CO2 retention.
Hospital admission was arranged for genetics and neurology
evaluation as well as initiation of bi-level positive airway pressure
(BPAP) during sleep. Settings were titrated at bedside based upon
SpO2 and confirmed by PSG prior to going home. Magnetic Resonance
Imaging of the brain was found to be normal. Although there was
report of some behavioral issues from caregivers, no additional
neurological evaluation was done at this time. Laboratory analysis for
CCHS was done but results were not available before discharge home.
Subsequently, genetic testing was positive for the PHOX2B mutation
with the 20/25 genotype which confirmed a diagnosis of CCHS. There
were no gastrointestinal complaints suggestive of Hirschsprung’s
disease, which is generally not associated with this specific genotype
[2].
Initially she did not do well with BPAP at home. Discussions with
caregivers regarding the need for long term ventilation were difficult
due to coping with the diagnosis. Adherence did finally increase with
the use of clonidine and psychology involvement. Her behavior also
improved with better compliance. Despite this, the PSG remained
abnormal and adequate ventilation could not be achieved with BPAP.
AHI was 59.1, average SpO2 89%, and the ETCO2 remained above 50
mmHg for the almost the entire study regardless of BPAP settings.
Good control of ventilation could not be achieved on any of the
settings tried.
Therefore, at 2.5 years of age, a tracheostomy was performed for
invasive ventilation during sleep. Soon afterwards, she was able to
tolerate a speaking valve during the day while awake. Supplemental
oxygen was not required. She continued to be fed orally after
receiving the tracheostomy but swallowing analysis revealed the need for thickened liquids. Swallowing had not been evaluated previously.
Significant improvements in both development and behavior
were seen after tracheostomy placement. Prior to this, her speech had
been delayed. A trial of tracheostomy capping during awake time was
attempted and well tolerated. By age 3 years, she was able to maintain
a capped tube during awake hours and continued ventilator support
while asleep.
A follow-up PSG done at 5 years of age to assess ventilation was
found to be mildly abnormal. ETCO2 was above 50 mmHg for 18%
of the time with a maximum of 58 mmHg. Increased tidal volume
settings did not improve ventilation. However it was later noted
during the study when the ventilator began auto-cycling due to
tracheostomy leak, the ETCO2 normalized. Ventilator adjustments
were made to increase the respiratory rate and a repeat study was
normal. In the interim she began kindergarten and did very well in
school.
At 7 years of age, plans were made to transition to NIV. Since
she was already capping her tracheostomy while awake, the next
step was mask desensitization. She was fitted with a nasal mask in
the clinic setting with her tracheostomy capped while using the
ventilator. She was instructed to trial this at home only while awake
for desensitization. She had no problem tolerating the mask and
was admitted to the hospital one week later to begin nighttime use
under observation. NIV with her tracheostomy capped during sleep
was well tolerated so the tracheostomy tube was then downsized.
Ventilator settings were adjusted after a follow-up PSG. She was
discharged home with instructions to use NIV with her tracheostomy
capped during sleep.
One month later, just a few days prior to her 8th birthday, she
was admitted for removal of the tracheostomy tube. PSG results
3 months post decannulation using NIV initially showed both
abnormal ventilation and oxygenation but normalized with a change
in ventilator settings and use of a full face mask. Her quality of life has
improved due to reduced risk of infection and ability to participate
in activities that were previously prohibited with the tracheostomy.
Discussion
CCHS is typically diagnosed in the newborn period; however,
more cases are now discovered in late infancy and childhood as well
as in adults. The 20/25 genotype is one of the most common and
continuous ventilator support is usually not required [2-4]. A late
onset of CCHS has been associated with use of respiratory depressants
or severe respiratory infection [9]. In this case, symptoms of CCHS
presented as inability to respond well to hypoxemia/ hypercarbia
related to a choking episode, followed by detection of hypoxemia
during sleep and an episode of progression to apnea following use
of anesthesia.
While there are reports of successful use of NIV in infants with
CCHS [10-12], it is not recommended until 6-8 years of age in stable
children for those requiring only night time support [2]. Weaning
from ventilator support should never be a consideration given the
underlying pathophysiology of CCHS [2]. Initial attempts with NIV
in this child were difficult due to non-adherence and ultimately failed.
Non-adherence may have been due to young age and behavior issues.
It is possible that her difficult behavior was related to chronic night
time hypoventilation as it improved after ventilation was initiated.
Although her behavior was better once adherence increased with use of NIV, a tracheostomy was ultimately necessary to obtain adequate support.
A limited number of children with CCHS have successfully
transitioned from invasive to NIV [13]. While the European
Congenital Hypoventilation Syndrome Network offers some
guidance in this area [14], evidence based practice is lacking for
the process of approaching tracheal decannulation and changing to
NIV. Additionally, firm criteria need to be established to determine
candidates for decannulation in those with CCHS. Continuous
observation and/or monitoring are of utmost importance in managing
CCHS as complete respiratory arrest or severe hypoventilation may
occur at the onset of sleep [2]. When NIV is utilized, an actual
ventilator should be used rather than a BPAP device since these
machines are generally not approved for providing life support in the
home setting [2].
We utilized a stepwise approach beginning with mask
desensitization, as she already tolerated a capped tracheostomy tube
while awake since 3 years of age. The next step was use of NIV during
sleep with the tracheostomy tube capped under observation followed
by downsizing of the tracheostomy and PSG evaluation. Subsequently,
she was admitted for decannulation with additional PSGs planned.
The use of multiple PSGs played a vital role in determining the
adequacy of ventilator settings. Although this child was successfully
decannulated and transitioned to NIV, more guidance is needed to
assist practitioners taking care of individuals with CCHS who are
candidates for NIV.
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