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Canadian Journal of Anesthesia 52:845-847 (2005)
© Canadian Anesthesiologists' Society, 2005
Obstetrical and Pediatric Anesthesia

Uncomplicated outcome after anesthesia for pediatric patients with Gaucher disease

[Évolution sans complications après l’anesthésie de patients pédiatriques atteints de la maladie de Gaucher]

Alexandr Ioscovich, MD*, Alex Briskin, MD*, Aya Abrahamov, MD{dagger}, Stephen Halpern, MD{ddagger}, Ari Zimran, MD{dagger} and Deborah Elstein, PhD{dagger}

* From the Department of Anesthesiology, and
{dagger} the Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel; and
{ddagger} the Department of Anaesthesia, Sunnybrook and Women’s College Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada.

Address correspondence to: Dr. Deborah Elstein, Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel. Phone: +972-2-655-5143; Fax: +972-2-651-7979; E-mail: elstein{at}szmc.org.il


   Abstract
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 Abstract
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 Methods
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Purpose: The purpose of this retrospective review was to highlight clinical issues relating to anesthetic management in children who present with Gaucher disease-specific features that may impact on anesthetic management and surgical outcome. Previous reports have dealt primarily with neuronopathic forms where neurological dysfunction determined the mode of anesthesia. To date, no series of routine surgeries in pediatric patients with non-neuronopathic Gaucher disease has been published.

Methods: All surgeries performed in children with Gaucher retrospectively analyzed.

Results: There were 31 procedures under anesthesia in 15 pediatric patients. Twenty-seven of these (87%) involved either insertion or removal of a central venous catheter. There was no correlation between disease severity and the need for blood transfusion postoperatively [required in only eight cases (25.8%), including a total hip replacement]. No difficult intubations or other airway problems were recorded. Positioning of two patients, because of gibbus and prior to hip replacement, respectively, required special attention.

Conclusions: We record our experience in surgeries in children with mild, non-neuronopathic type I and severe neuronopathic type III Gaucher disease, who had relatively short surgeries under general anesthesia. Attention to hematological parameters in particular can minimize postoperative bleeding, the most serious complication.


   Introduction
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 Abstract
 Introduction
Methods
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 Discussion
 References
 
CAUCHER glucocerebroside in disease, the most prevalent lysosomal storage disorder, is caused by an inherited enzymatic defect with consequent accumulation of undegraded monocyte-macrophage cells.1 Classically, three types of Gaucher disease have been described. Type I, marked by absence of neurological involvement and generally by the presence of the 1226G (N370S) mutation on at least one allele, is especially prevalent among the Ashkenazi Jewish population.2 Most patients present with hepatosplenomegaly and consequent hypersplenism, and in some children, growth retardation. Skeletal and lung involvement may also be seen among patients with severe untreated disease.

Types II and III, the neuronopathic forms, are relatively rare and panethnic,3 with the minimal neurological component common to both types being horizontal supranuclear gaze palsy.

Before the advent of enzyme replacement therapy (ERT),4 medical management was confined to symptomatic relief and surgical interventions such as joint replacements and splenectomy. ERT has proven to be safe and effective in reducing organ volumes and improving hematological parameters. ERT, however, necessitates iv infusions, making home therapy an attractive option,5 particularly via a central access device.

Recently, we reviewed surgeries performed in pediatric patients with Gaucher disease in our institution to highlight clinical issues relating to anesthetic management. Previous reports in the literature described cases where neurological dysfunction primarily determined the mode of anesthesia, while our experience was in relatively short surgeries for non-life-threatening complications, and in patients without neurological involvement.6,7


   Methods
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 Introduction
 Methods
Results
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The records of children monitored in the Gaucher Clinic and who had undergone anesthesia for a surgical procedure in the Shaare Zedek Medical Center (SZMC) were reviewed by one anesthesiologist (A.I.) using a standard SZMC spreadsheet for outcome measures after anesthesiology.

There was no requirement for informed consent for retrospective studies at our institution.


   Results
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 Abstract
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Discussion
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The TableGo presents the demographic data including severity score index (SSI).8 This index represents a point value from 0 to 30 points of organ involvement and age of onset which is calculated at presentation, and never updated; < 10 points implies mild disease and > 20 reflects severe disease. Use of ERT; reason for surgery; anesthetic management; and complications of all 31 procedures performed during 1993–2003 in 15 pediatric patients, are also presented in the TableGo.


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  		TABLE Patient characteristics and surgical interventions
 
Anemia (≤ 10 g·L–1) and thrombocytopenia (< 100,000·mm3) were present prior to eight surgeries (25.8%). Fresh frozen plasma was given because of excessive bleeding postoperatively in six cases, and packed cells were administered in the two other cases.

The median intraoperative crystalloid utilization was 300 mL (range: 100–2000mL), approximately 12 mL·kg–1 per procedure. Antibiotic prophylaxis was provided in seven cases (22.6%). No infection or neurological complication was observed.

Premedication was administered in 11/31 (35.5%) surgeries: syrup diazepam 0.3 mg·kg–1; im morphine 0.1 mg·kg–1; and pr pentothal 15 mg·kg–1.

Intubation was administered by facemask in three patients; three patients by laryngeal mask airway; and 25 patients received endotracheal intubation.

In 16 operations, 2% halothane was used for inhalation induction. For iv induction, thiopental 5 to 7 mg·kg–1, propofol 3 to 4 mg·kg–1, midazolam 0.05 to 0.1 mg·kg–1, ketamine 1 to 2 mg·kg–1 were used. For maintenance of anesthesia, N2O 50 to 60%, halothane 1% or isoflurane 0.8 to 1.5%, fentanyl 1 to 6 µg·kg–1 per procedure were used.

Special attention was required for positioning of two patients during surgery: one because of a gibbus deformity (abnormal hump of the upper spine) and one patient prior to hip replacement.


   Discussion
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The most frequent indication for anesthesia in this series of children with types I and III Gaucher disease was central line insertion or removal. Many venous access devices were recommended more than a decade ago in pediatric patients at the advent of ERT when treatment was given three times a week, and hence sterile and simple venous access was a major component for patient compliance. During the intervening years, the same technique, including an unchanged anesthesia protocol for both insertion and removal, has proven effective. Perioperative anxiety (both patients and parents) was allayed in most cases by explanations prior to surgery. Postoperative pain relief was also initiated and individualized to minimize the potential for a traumatic postanesthesia experience. Postanesthesia nausea and vomiting were encountered in only one case.

During the years 1992–1994, blood products were often given as prophylaxis for patients who presented preoperatively with low hemoglobin values or low platelet counts as departmental protocol. When this practice was abandoned, fewer transfusions were administered post facto.

There was no apparent correlation between disease severity (as reflected by SSI) and need for blood transfusion. It should be noted that a low platelet count per se is not the only marker for concern about post-operative bleeding. Abnormal platelet function is not uncommon among patients with Gaucher disease,9 and hence, we recommend assessment of platelet function prior to any surgery (including dental interventions). Liver function tests are usually normal in pediatric Gaucher disease but should nonetheless be measured pre- and postoperatively.

In no patient was a difficult endotracheal intubation or other airway problem identified. Two patients with type III disease suffered from restrictive and obstructive airway disease, but not esophageal reflux, chronic aspiration or myoclonic seizures.

A laryngeal mask airway was used successfully in older children, but if the internal jugular vein was cannulated for central line insertion, intubation was preferred for airway protection. No patient had cervical lymphadenopathy or other pathology such as glycolipid storage in the epiglottis or at the base of the tongue, which may have obstructed the airway. While regional anesthesia might be appropriate for some surgeries in adult patients with Gaucher disease,10 the experience in children is too limited to formulate recommendations.

In summary, children with Gaucher disease may require multiple surgical procedures under general anesthesia. These can be performed safely provided appropriate precautions are taken. Hematological parameters such as serum hemoglobin, platelet count and platelet function should be measured and corrected preoperatively as required. Despite the pathology of the disease, special airway considerations were not an issue in this group of patients with Gaucher disease.


   Footnotes
 
Assessed December 14, 2004. Accepted for publication March 29, 2005. Final revision accepted May 3, 2005.


   References
TOP
 Abstract
 Introduction
 Methods
 Results
 Discussion
 References
 
1 Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Valle D, Beudet A, Sly WS (Eds). The Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill; 2001: III3635–68.

2 Beutler E, Gelbart T. Gaucher disease mutations in non-Jewish patients. Br J Haematol 1993; 85: 401–5.[Medline]

3 Brady RO, Barton NW, Grabowski GA. The role of neurogenetics in Gaucher disease. Arch Neurol 1993; 50: 1212–24.[Abstract]

4 Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med 1991; 324: 1464–70.[Abstract]

5 Zimran A, Hollak CE, Abrahamov A, van Oers MH, Kelly M, Beutler E. Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. Blood 1993; 82: 1107–9.[Abstract/Free Full Text]

6 Tobias JD, Atwood R, Lowe S, Holcomb GW 3rd. Anesthetic considerations in the child with Gaucher disease. J Clin Anesth 1993; 5: 150–3.[Medline]

7 Dell’Oste C, Vincenti F. Anaesthetic management of children with type II and III Gaucher disease. Minerva Pediatr 1997; 49: 495–8.[Medline]

8 Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher’s disease by identification of mutations at DNA level. Lancet 1989; 2: 349–52.[Medline]

9 Gillis S, Hyam E, Abrahamov A, Elstein D, Zimran A. Platelet function abnormalities in Gaucher disease patients. Am J Hematol 1999; 61: 103–6.[Medline]

10 Tobias JD. Anaesthetic considerations for the child with leukodystrophy. Can J Anaesth 1992; 39: 394–7.[Abstract/Free Full Text]





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