Corresponding author:
Dr N.Nagarjun
Email ID:
drnagarjun.n@gmail.com
To the editor,
Beckwith-Wiedemann syndrome (BWS) is a complex genetic disorder
characterized predominantly by macroglossia, hemihyperplasia, and
omphalocele. (1) Sleep disordered breathing is highly prevalent (nearly
48%) in these children due to the macroglossia and facial
hemihypertrophy. (2)While surgical interventions such as glossectomy
have been commonly employed to manage obstructive sleep apnea (OSA) in
BWS, there has been limited experience or published data on the efficacy
of conservative management with only non-invasive ventilation (NIV) in
these children.(1) We present our experience of a child with BWS who
demonstrated a significant response to NIV therapy.
Our patient was a 4-year-old male child, born to non-consanguineous
parents, with classical features of BWS, including macroglossia and
facial hemihypertrophy. Genetic testing confirmed the diagnosis of BWS
with an imprinting abnormality on the IC2(KvDMR) domain of chromosome
11p15. The child was referred to us for complaints of snoring, gasping,
and apneic episodes noted by parents during sleep, associated with
excessive daytime sleepiness and irritability. Polysomnography conducted
revealed severe OSA with an apnea-hypopnea index (AHI) of 10.5/hour
associated with significant desaturations during the events. A
drug-induced sleep endoscopy (DISE) revealed obstruction at the level of
the tongue base with no significant adenoidal enlargement. Parents, when
given both surgical and NIV options, preferred to avoid surgery and
thereafter the child was initiated on continuous positive airway
pressure (CPAP) therapy in a hospital-based protocol. On follow-up over
the next three months, parents noted a significant improvement in sleep
symptoms with no snoring or apneic episodes. A titration study was
conducted and pressures were set at 7 cm of H20. The child was followed
up on a monthly basis with repeated counseling on NIV adherence and
troubleshooting when needed. The child remained compliant and satisfied
with therapy over one-year, showing no recurrence of sleep symptoms. A
repeat polysomnography conducted showed an AHI of <1/hour on a
CPAP pressure of 7 cm of H20.
OSA is a common feature in children with BWS, often attributed to
macroglossia and craniofacial abnormalities.(1) While surgical
interventions like glossectomy have been traditionally considered, our
case demonstrates the effectiveness of NIV alone in managing OSA
associated with BWS. Surgical interventions reducing the tongue size,
although effective in some cases in alleviating airway obstruction,(3)
may not be the preferred option by most parents. Further, glossectomy
being an invasive procedure can be associated with risks such as
bleeding, infection, and post-operative pain. Additionally, long-term
outcomes regarding speech function and taste perception remain a
concern, as some studies have reported persistent tongue abnormalities
and taste deficits following surgery. (2,4,5)
Conservative management with NIV offers a non-invasive alternative for
managing OSA in BWS. CPAP therapy, if initiated in a child friendly
hospital based protocol, followed by physician led strategies to ensure
compliance, can play a significant role overcoming sleep symptoms and
improving the quality of life in children with BWS. In the future, if
more sleep centers opt for NIV therapy over surgical management in
children with BWS, adequate comparative studies and protocols can be
published to assist parents and physicians to make an evidence based
decision.
References
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10.1097/SCS.0000000000000991.
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