Anesth Analg 2003;97:53-55
© 2003 International Anesthesia Research Society
PEDIATRIC ANESTHESIA
Galactosialidosis: A Unique Disease with Significant Clinical Implications During Perioperative Anesthesia Management
Robert J. Friedhoff, MD,
Steven H. Rose, MD,
Michael J. Brown, MD,
Timothy R. Long, MD, and
C. Thomas Wass, MD
Department of Anesthesiology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota
Address correspondence and reprint requests to C. Thomas Wass, MD, Department of Anesthesiology, Mayo Clinic, 200 First St., S.W., Rochester, MN 55905. Address e-mail to wass.thomas{at}mayo.edu
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Abstract
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IMPLICATIONS: Anesthetic management of patients with mucopolysaccharidoses is well known. The anesthetic implications of patients with galactosialidosis may be similar to those with other well documented mucopolysaccharidoses, but no cases have been reported in the anesthesia-related literature. We present a case describing anesthetic management of a patient with galactosialidosis undergoing cervical spine surgery.
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Introduction
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Lysosomal storage diseases (e.g., Morquio, Hunter, Hurler, Sanfilippo, and Scheie syndromes) are rare metabolic disorders that may affect patient care in the perioperative period (1–11). We report a complicated anesthetic in a pediatric patient with galactosialidosis (a very rare lysosomal storage disease) who was scheduled for fusion of an unstable cervical spine.
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Case Report
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A 12-yr-old, 30-kg Arabic-speaking girl with marked odontoid hypoplasia associated with galactosialidosis was scheduled for elective cervical spine stabilization. Her medical history was remarkable for atlantoaxial instability, skeletal dysplasia and dysostosis, short stature, dental malocclusion, mitral regurgitation, aortic stenosis, conductive hearing loss, and urinary voiding dysfunction. Her only preoperative medication was occasional oral morphine sulfate for pain. On physical examination, her airway appeared challenging (Mallampati Class 3, substantial macroglossia, and small interincisor distance; Fig. 1). Her neurologic examination was normal.
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Figure 1. Photograph of our patient depicting facial features associated with late infantile galactosialidosis.
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Because of concerns of establishing an airway in a non-English-speaking child with a difficult airway and unstable cervical spine, fiberoptic intubation was planned. After routine monitors were placed consistent with American Society of Anesthesiologists standards, general anesthesia was induced via face mask with inhaled sevoflurane, nitrous oxide, and oxygen. The patient’s head and neck were maintained in a neutral position throughout anesthetic induction. IV atracurium 15 mg and glycopyrrolate 0.2 mg were administered after placement of an IV catheter. To improve bag mask ventilation, an oral airway was placed, with some difficulty due to limited mouth opening, macroglossia, barrel chest, and neutral cervical spine positioning. Muscle relaxation and oral airway insertion resulted in improved ventilation, and fiberoptic nasotracheal intubation was attempted. Fiberoptic intubation was difficult because of the distorted anatomy (i.e., pronounced macroglossia and an anteriorly displaced larynx) associated with her coexisting disease; however, the trachea was successfully intubated with a 5.0-mm cuffed nasal endotracheal tube (NETT). On physical examination, breath sounds were present and equal bilaterally, and normal capnography was observed. A wake-up test, which had been explained to the patient through an interpreter before surgery, was performed after nasotracheal intubation to assess neuraxial integrity. Upper- and lower-extremity motor function appeared to be grossly intact at this time. Accordingly, general anesthesia was resumed with inhaled isoflurane, nitrous oxide 65% in oxygen, and IV atracurium.
Cranial pinions were inserted, and the patient was positioned prone. A second wake-up test confirmed an unchanged neurologic examination. After approximately 50 minutes, a dramatic decrease in tidal volume, increase in peak-inspiratory pressure, and increase in end-tidal CO2 were observed. The NETT was suctioned without appreciable improvement. Fiberoptic airway examination revealed near-total occlusion of the distal endotracheal tube by a blood clot. Under fiberoptic visualization, this material was readily evacuated through the suction port of the flexible bronchoscope. Mechanical ventilation improved dramatically, and the case proceeded uneventfully thereafter. A third wake-up test confirmed an unchanged neurologic examination at the conclusion of the cervical spine fusion.
Because of concerns regarding facial and airway edema in combination with a difficult airway and cervical immobility, we elected to leave the trachea intubated at the conclusion of surgery. Thus, IV sedation was provided during transportation to the pediatric intensive care unit. On postoperative Day 2, after resolution of the facial edema—with an emergency airway cart close at hand—the trachea was extubated uneventfully after demonstration of air exchange around the deflated NETT cuff.
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Discussion
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We present a case of a patient with late infantile galactosialidosis associated with airway, cervical spine, and cardiac anomalies that affected airway and anesthetic management. Because of the rarity of this disease, such reports are lacking in the anesthesia literature.
Mucopolysaccharidoses (MPS) are inherited disorders of metabolism classified as lysosomal storage diseases (1–11). Many of the lysosomal storage diseases listed previously are associated with skeletal and soft tissue aberrations that include—but are not limited to—cervical spine kyphosis, atlantoaxial instability, macroglossia, tonsillar and adenoidal hypertrophy, and decreased lower airway diameter (2–5,11). Morphologic changes in these organ systems result from accumulation of glycosaminoglycans within lysosomes, which, in turn, distorts normal tissue architecture (1–3,5,9–11).
Galactosialidosis is an unusual autosomal recessive lysosomal storage disease caused by a defect in the protective serine protease, cathepsin A (1,4,8–10). Cathepsin A protects both ß-galactosidase and 
-neuramidase from intralysosomal proteolysis (1,4,8–10). Lack of cathepsin A protection results in proteolysis and deficiency of these two enzymes, which, in turn, causes accumulation of lysosomal mucopolysaccharide (1,4,9,10). Clinically, three types of galactosialidosis are presently recognized: early infantile, late infantile, and juvenile/adult (1,4,9,10). All three types are associated with varying degrees of skeletal dysplasia, visceromegaly, neurologic compromise, friable mucosa, and cardiac abnormalities (e.g., valve lesions and cardiomyopathy) (4,5,8–10). Early infantile galactosialidosis is the most severe form and is associated with premature mortality (4,8,10). Late infantile and juvenile/adult galactosialidosis are slowly progressive diseases that are less severe than the early infantile type (4,8,10).
Airway management in patients with MPS may be challenging because of anatomic abnormalities. For example, airway problems have been reported in up to 53% of patients with the more common forms of MPS (2,7). However, altered airway anatomy has not been previously reported in patients with galactosialidosis. Our patient with late infantile galactosialidosis had an abnormal airway, as well as cervical spine instability and cardiac anomalies. The former was noted during the preanesthetic physical examination. Because of concerns of awake tracheal intubation in an uncooperative non-English-speaking child, fiberoptic intubation after the induction of general anesthesia was planned. Despite our best-laid plans, we encountered some difficulty with fiberoptic intubation because of a dysmorphic airway, copious oral secretions (even though IV glycopyrrolate was administered), mild epistaxis, her abnormal thoracic anatomy (barrel chest), and our reluctance to flex or extend her cervical spine.
In summary, galactosialidosis is a very rare lysosomal storage disease associated with comorbidities affecting patient management during the perioperative period. In our patient, this lysosomal storage disease was associated with concurrent airway, orthopedic, and cardiac abnormalities. Because late infantile and juvenile/adult galactosialidosis are slowly progressive, patients with these subtypes often require surgery because of the skeletal and soft tissue manifestations of their disease. Airway difficulties should be anticipated in this patient population. It may be prudent to have access to an otolaryngologist should a surgical airway become necessary.
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References
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Accepted for publication March 4, 2003.
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Abstract
Introduction
