Discussion:
The deletion of the 4q chromosome is a rare deletion syndrome with only
around 200 cases reported in the literature.2 Based on
the genetic analysis completed by Xu et al., the congenital heart
defects associated with this syndrome have been localized to the
4q32.2-q34.3 region.2 Our patient demonstrated
deletions of the terminal end of this region (q34.1 - q35.2), which may
have precipitated their PFO and PDA. The heart defects were visualized
via echocardiogram on Day Two of life were evaluated and thought to
likely close spontaneously without intervention. Upon preoperative
physical exam by the anesthesia team, the patient’s cardiovascular exam
was grossly normal. However, close monitoring of their cardiovascular
status was implemented due to their history of 4QDS. The patient’s
status was well-maintained throughout the procedure.
Our patient also presented with dysmorphic features associated with 4QDS
such as flattening of the midface and nasal root, upturned nostrils, a
high-arched palate, triangular mouth and posteriorly rotated, low-set
ears - all features that could be concerning for intubation. Despite
these dysmorphic features, the patient’s ASA score was deemed a II and
without concern for a difficult airway, which would suggest the patient
was a good candidate for minimal, moderate or deep
sedation4. However, considering the patient’s
anomalies, there was a concern for the airway requiring a smaller than
expected ETT, especially since prior reports of 4QDS have demonstrated
such.4,5
Per the 2022 American Society of Anesthesiologists (ASA), pediatric
patients perceived as difficult or potentially difficult can be managed
using an airway management algorithm with an emphasis on team-based
care.6 This care includes the use of video
laryngoscopy to maximize visualization of a patient’s airway and
minimize airway intubation attempts. As such, video laryngoscopy via
C-MAC® was chosen for intubation with success in one attempt. Dearlove
and Sharples present a case report that highlighted a 4QDS patient whose
laryngoscopic imaging demonstrated a small larynx with only the
posterior arytenoids visualized.4 While our patient
presented with normal laryngeal anatomy as seen in Figure 1C and D, this
report demonstrates the utility of video laryngoscopy for intubation in
patients with 4QDS. There was potential for difficulty intubating our
patient, and the video laryngoscope allowed the anesthesiologist to
assess this in real time.
In addition to airway management, the anesthesia team also administered
a QL block in the setting of laparoscopic inguinal hernia repair as a
component of a multimodal anesthetic technique for pain management.
Advances in pediatric regional anesthesia have evolved as the prevalence
of ambulatory pediatric surgery has also grown. With the association of
opioid use and perioperative complications, regional anesthesia has
proven to be a safe and effective form of pain control in the ambulatory
pediatric surgery setting, while also minimizing the use of
narcotics.7 When used in conjunction with Tylenol, as
in our patient, this constitutes multimodal anesthetic technique, an
approach with proven benefit in ambulatory pediatric
patients.8 While there is a documented report of pain
insensitivity in 4QDS9, our patient had previously
demonstrated a response to painful stimuli in the setting of
incarcerated inguinal hernia, which warranted the adoption of the
regional anesthetic technique. The QL nerve block has demonstrated
efficacy in multiple randomized control trials, presented by Zhao et al.
in a meta-analysis of 346 patients, especially when administered under
general anesthesia and ultrasound guidance.10 The
uncomplicated nature of our patient’s nerve block, in addition to the
lack of laryngeal narrowing seen during video-assisted intubation and
the lack of persistent cardiac defects, suggest the variance in
presentation/phenotype present in patients with 4QDS. This is also in
line with the inconsistent reporting of both pain insensitivity and
laryngeal narrowing reported in the literature.2,4,5,9Our approach, with emphasis on the ASA 2022 Guidelines, maximized
patient safety by emphasizing teamwork, communication, and caution. Some
limitations of this approach, though, include the resources and time
required to successfully carry out this plan. Smaller institutions may
not have access to pediatric video laryngoscopy or providers trained in
the use of such equipment.