Introduction:
Deletion of the 4q chromosome is a rare chromosomal deletion syndrome
estimated to occur in about 1 out of every 100,000
births.1 The effects of this deletion present with
various clinical phenotypes2, such as congenital heart
defects, craniofacial dysmorphic features, and developmental
delay1. The gravity of physical characteristics is
dependent on the amount and the site of chromatin that is missing. Most
patients pass away before two years of age or, if they survive, are
confronted with both social and physical barriers.3With specific reference to anesthesia, patients with this syndrome have
inconsistently been reported to have laryngeal narrowing, raising the
concern for intubation difficulties.4,5 Due to the
rarity of this syndrome and the myriad of clinical presentations, few
guidelines are found for the induction of anesthesia in a patient with
this syndrome.
In this report, we describe the anesthetic management of a patient with
known chromosome abnormality of 46 XY, del(4)q34.1 - q35.2 and
associated dysmorphic appearance, including micrognathia. Craniofacial
abnormalities are of consideration in the selection of tracheal tube
sizes and may result in difficult intubation. These same abnormalities
can be severe, to the point in which patients require long-term
tracheostomy or plastic/orthopedic surgery for jaw
reconstruction.6 In this report, we discuss the
management of anesthesia, utilization of a quadratus lumborum plexus
block, and provide images of the characteristic craniofacial
abnormalities observed in Chromosome 4q Deletion Syndrome (4QDS). To our
knowledge, no case to date has reported on the anesthetic management of
pediatric patients with 4QDS, including nerve block procedures.
Additionally, few resources in the literature exist that show clear
images of the characteristic appearance of patients with 4QDS or
document their intubation.