Background:
Ehlers-Danlos Syndrome is a group of connective tissue
disorders that most commonly results in hypermobility. The
consequences of this are vast and range from hyper-flexible joints,
fragile skin, and vascular complications including arterial rupture or
valvular heart disease. The disease does not directly effect the
nervous system, but neurological symptoms are common and
sometimes arise secondary to occipitoatlantoaxial joint instability.
This instability effects approximately 1/15 people with EDS and can
manifest after repetitive stretch injuries to the ligaments and
tendons supporting the head or after a trauma to the neck such as
whiplash. Symptoms include paralysis and autonomic dysfunction
resulting in orthostatic hypotension, tachycardia, or delayed gastric
emptying.
Case Description:
This is a 22 year old male with a past medical history of EDS,
hypermobility subtype resulting in occipitoatlantoaxial joint instability
status post occiput to C2 fusion and autonomic dysfunction. In
addition, he is heterozygous for CACNA1S, a gene associated with
hypokalemic periodic paralysis and malignant hyperthermia. The
patient experiences intermittent full body paralysis and apnea as a
consequence of his instability. Following his recent fusion, the
frequency of paralysis and apnea decreased from several times a day
to several times a month but still remained problematic. The patient
has adapted well to this and is able to prevent his head from tilting
into the position that causes the paralysis. On exam, this resulted
after slight jaw protrusion and right sided head tilt. In the event of
paralysis, his mother simply moves his head out of that position and
the paralysis resolves completely. He presented for surgical
implantation of a diaphragmatic pacer so that apnea events could not
prove fatal.
Discussion:
It was imperative that records from his recent fusion were
reviewed. The anesthetic plan at that time consisted of general
anesthesia with propofol on induction, sevoflurane for maintenance,
and rocuronium for paralysis. Airway was managed using direct
laryngoscopy with a secure airway. The patient did not show
hemodynamic instability at any time during the case. There were no
complications following surgery. The case was also discussed with a
MH expert who stated that this patient is at an unknown risk to
experience MH. It was decided to minimize any risk and avoid MH
triggering agents. With that information, general anesthesia with a
secured airway was chosen, as the patient may not be able to
spontaneously breath throughout the case due to his periodic apnea
and paralysis. Slow propofol induction was used with rocuronium for
paralysis. The airway was managed using a D-Blade with in-line
stabilization to minimize neck movement. Due to the patient’s
autonomic dysfunction, an arterial line was placed for closer
hemodynamic monitoring. The placement of the diaphragmatic pacer
required the patient to be fully reversed at the end of the case to
ensure proper functioning of the device. For this reason,
sugammadex was used to rapidly reverse the rocuronium. There
were no complications.
