Medical Alert for Parents of Children with I­Cell Disease
and the Physicians Who Care for ThemI­Cell disease is a slowly progressive inborn error of metabolism for which,unfortunately, no curative treatment is available. Children with I­Cell disease haveextreme growth failure, neurodevelopmental delay and disease of connective tissues inmany organs, including the lungs and respiratory tract. Manifestations including swollen
gums, stiff joints, thick­feeling skin, bone and tendon abnormalities are well known signsof the disorder.
Because of the poor growth potential, atrophied muscles, and poor compliance ofthe narrow thoracic cage, the baseline respiratory status of these children is compromised.
Additionally, they have small mouths that do not open fully or easily. As the children
grow older the airway becomes gradually more restricted as the initially swollen airway
passages become stiff and easily traumatized. This combination of factors makes
intubation (placing a tube within the airway in order to use mechanical assistance tobreathe for the patient) very risky, so elective surgical procedures should be avoided asmuch as possible.
If a procedure is considered essential, it should be undertaken at a major medical
facility where pediatric anesthesia and pediatric critical care services are available. Under
all circumstances, medical staff should be prepared to perform fiberoptic intubation, wherea tiny camera is used to visualize the airway during the intubation procedure. Because
children with I­Cell disease have much smaller airways than other children of the sameage, a much smaller endotracheal tube will be required. However, a smaller tube may beless effective for ventilation (breathing for the patient) and may potentially lead toadditional problems such as pneumothorax or collapsed lung.
All medical personnel involved with the elective procedure (surgeons,anesthesiologists, and critical care specialists) should be conversant with the clinicalfeatures and natural course of I­Cell disease. Parents and physicians must realize that
intubation can easily cause more problems than an elective procedure may alleviate.
For many of the same reasons already described, extubation (removing thebreathing tube) may also be unusually difficult and the patient’s general condition in thefirst days following it, quite unpredictable. If prolonged intubation is required, atracheotomy (making an artificial hole in the trachea through an incision in the neck) will
be required. The probability of subsequent adequate healing in order to close thetracheostomy and having the patient breathe without mechanical assistance is slim indeed.
All humans have an airway protective reflex so as to continue to breathe whensleeping or even when artificially sedated. Deep anesthesia diminishes this reflex.
Children with I­Cell disease do not necessarily respond differently to anesthesia.
However, because of their precarious airway status from the start, the patients may losethat protective reflex very quickly, even from “light sedation”. That is why a medical teammust always be prepared for intubation, preferably fiberoptically, if indeed a surgicalprocedure is considered of crucial importance.
Sara Cathey MD
Jules G. Leroy MD. PhD

Greenwood Genetic Center, Greenwood, South Carolina, USA