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Objective: To compare the efficacy of mannose-terminated glucocerbrosidase prepared from natural (alglucerase; Ceredase, Genzyme Corp., Cambridge, Massachusetts) and recombinant (imiglucerase; Cerezyme, Genzyme Corp.) sources in treating type 1 Gaucher disease.Design: Double-blind, randomized, parallel trial.Setting: University medical center and clinical research hospital.Patients: 15 patients (4 children and 11 adults) randomly assigned to receive Ceredase and 15 patients (3 children and 12 adults) assigned to receive Cerezyme.Intervention: Ceredase and Cerezyme were infused every 2 weeks for 9 months at a dose of 60 U/kg body weight.Outcome Measures: Hemoglobin levels, platelet counts, and serum acid phosphatase and angiotensin-converting enzyme activities were monitored every 2 weeks during the trial. Hepatic and splenic volumes were assessed at the time of randomization and after 6 and 9 months of enzyme infusion. Formation of IgG antibodies to Ceredase or Cerezyme was monitored every 3 months by radioimmunoprecipitation assay.Results: No significant differences were found in the rate or extent of improvement in hemoglobin levels, platelet counts, serum acid phosphatase or angiotensin-converting enzyme activities, or hepatic or splenic volumes between either treatment group. The incidence of IgG antibody formation was greater in the Ceredase group (40%) than in the Cerezyme group (20%). No major immunologic adverse events occurred in either group.Conclusions: Our study shows the therapeutic similarity of Ceredase and Cerezyme. Cerezyme has the advantage of being theoretically unlimited in supply and free of potential pathogenic contaminants. [ABSTRACT FROM AUTHOR]

The purpose of this paper is to describe the radiographic findings in type 3 b Gaucher disease, a chronic neuronopathic form of the illness with severe systemic manifestations. Between 1980 and 1985 17 consecutive patients were evaluated with radiography of the chest, long bones and spine, CT of the head and chest, abdominal sonography, and MRI of the head, abdomen and spine. Clinical manifestations were severe, and led to death from hepatic, pulmonary or cardiac failure in nine patients. Type 3 b Gaucher disease shares the same spectrum of radiographic findings observed in type 1 disease, but the systemic manifestations are more severe. Pulmonary infiltrates, thoracic lymph node enlargement, vertebral compression fractures and osteonecrosis of the long bones occur much more frequently in patients with type 3 b disease. [ABSTRACT FROM AUTHOR]

We prospectively applied a protocol used to sedate children who required a liver biopsy. Sixty liver biopsies were performed on thirty pediatric patients to assess the effects of treatment. Sixteen patients had Type 1 Gaucher's disease of which seven had a platelet count between 50-100,000/mm3. All seven had bleeding time performed and when indicated, intravenous DDAVP (1-deamino-8-D-arginine vasopressin) was used to improve hemostasis. Fourteen patients had Niemann-Pick disease type C of which eight were significantly demented and uncooperative. Before liver biopsy, all patients were sedated with the following regimen: oral chlorpromazine (1 mg/kg) followed one hour later by intravenous meperidine (1 mg/kg) and pentobarbital (maximum dosage 6 mg/kg) administered by slow intravenous injection. Liver biopsies were obtained safely on all patients. Only 1 patient (2%) developed a potentially serious complication: an obstructed airway which was readily corrected by simple repositioning. Transient less serious complications occurred in another 7 patients (12%). There was no long term sequalae of the biopsy procedures. Our study indicates that with appropriate patient selection, this sedation protocol may be useful in pediatric patients requiring a liver biopsy. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented on the treatment of Gaucher's Disease in the December 3, 1992 issue of the journal.

Background: Late infantile metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder that causes severe demyelination of the nervous system. The neuronal metabolite N-acetylaspartate (NAA) serves as a source of acetyl groups for myelin lipid synthesis in oligodendrocytes and is known as a marker for neuronal and axonal loss. NAA and other metabolite levels measured by proton magnetic resonance spectroscopy (MRS) correlate with performance of the brain in normal children. There is a need for sensitive measures of disease progression in patients with MLD to enable development of future treatments., Methods: A cross-section of 13 children with late infantile MLD were examined by proton MRS. Signals from NAA, total choline, and total creatine in the deep white matter were measured and correlated with the results of cognitive and motor function tests., Results: The NAA signal decreased as the disease process advanced. Motor function, measured by the Gross Motor Function Measure-88, varied from 13 (only head movement in the supine position) to 180 (able to walk) across the study cohort, demonstrating a wide range in functional status. Similarly, varied decreases were observed in cognitive function. We report strong positive correlations between standardized measures of motor and cognitive function and NAA levels in the deep white matter., Conclusions: We suggest that NAA levels could serve as a sensitive biomarker in children with MLD. Proton MRS may provide a valuable tool for measuring the effects of treatment interventions in this disorder.