1. This is a retrospective review of medical records of patients who
received anesthesia between 2012 and 2014
Families signed a University of Pittsburgh IRB consent for
review of their records.
The procedures were at the Children’s Hospital of Pittsburgh of
UPMC
All of the patients were evaluated at the Program for the Study of
Neurodevelopment in Rare Disorders (NDRD)
Using information about each individual patient’s seizure
episodes, apneic episodes, mobility, Gastroesophageal reflux, and
aspiration a classification system was created to categorize the
severity of the patient’s disease progression from patient medical
history
 Using information from the medical procedures—specifically the
anesthesia records—anesthesia analyses were done for MRIs,
central line removal and/or placement, and gastronomy tube
placement procedures
Krabbe Disease, an autosomal recessive disease, causes a
reduction in galactocerebrosidase (GALC) activity
Onsets: Early infantile (3-6 mo.), late infantile (6 mo.-2 yr.),
juvenile (2-16 yr.), adult (older than 16 yr.)
Clinical Manifestations: hypertonia, hypotonia, decreased deep
tendon reflexes, visual deficits/blindness, feeding difficulties,
irritability, ataxia, weakness, spastic paraparesis, behavioral
problems, dementia, and seizures
 Metachromatic Leukodystrophy (MLD), another lysosomal
storage disorder, is caused by a deficiency in arylsulfatase A
(ASA) and saposin B activity
Onsets: Late infantile (before 2.5 yr.), juvenile (2.5-16 yr.),
adult (older than 16 yr.)
Clinical Manifestations: gait disturbance, posture abnormalities,
abnormal tendon reflexes, mental regression, loss of speech,
optic atrophy, ataxia, progressive spasticity, emotional and
behavioral disturbances, psychiatric symptoms, incontinence
These patients often require general anesthesia for diagnostic
and therapeutic interventions
Although an 8.1% complication rate is higher than the general population, these children’s complicated
disease course caused the majority of the complications
Excluding the bone marrow transplant patients, the complication rate was 4.4%
In general, the complications that we found were mild and self-limiting
The study is significant because the results are reassuring to parents and health care providers that
general anesthesia appears to be safe
Background
Methods
Results
Conclusions
NDRD
Class
Present Symptoms
1 Abnormal strength and/or abnormal muscle tone (hypertonic/hypotonic)
2
Abnormal strength and abnormal muscle tone (hypertonic/hypotonic), aspirating thin liquids, controlled
reflux, permanent feeding tube, snoring, and/or staring spells
3
Abnormal strength and abnormal muscle tone (hypertonic/hypotonic), aspirating thin and thick liquids,
controlled reflux, permanent feeding tube, snoring or sleep apnea, and/or staring spells or febrile
seizures
4
Abnormal strength and abnormal muscle tone (hypertonic/hypotonic), aspirating thin and thick liquids and
solids, controlled reflux, permanent feeding tube, sleep apnea or apneic episodes, and/or febrile seizures
or seizure episodes
5
Abnormal strength and abnormal muscle tone (hypertonic/hypotonic), aspirating thin and thick liquids and
solids, uncontrolled reflux, no permanent feeding tube, apneic episodes, and/or seizure episodes
Anesthesia Safety in Progressive Leukodystrophies
Maria Cristina Marcos, Mercedes Cristina Roosen-Marcos, MD, Franklyn P. Cladis, MD, Michele D. Poe, PhD, and Maria L. Escolar, MD, MS
Department of Pediatrics and Department of Anesthesia, University of Pittsburgh
The Program for the Study of Neurodevelopment in Rare Disorders
Methods (Continued) Results (Continued)
Krabbe
MLD
Anesthesia Analysis of Leukodystrophy Patients
NDRD Class Number of Procedures TIVA ETT LMA
1 31 1/31 16/31 15/31
2 42 0/42 15/42 27/42
3 18 0/18 6/18 12/18
4 19 0/19 8/19 11/19
5 3 0/3 0/3 3/3