Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II

B. Bembi, G. Ciana, C. Martini, A. Benettoni, A. Gombacci, M. Deganuto, M. G. Pittis

Research output: Contribution to journalArticlepeer-review

Abstract

Glycogenosis type II (GSD II) is a lysosomal storage disorder due to acid α-glucosidase deficiency. We report the results of a clinical multidisciplinary approach in two cases of nonclassical infantile GSD II. The patients received a high-protein diet by percutaneous enteral gastrostomy (PEG), mechanical ventilatory support by tracheostomy and a physiotherapy programme. After 12 months of treatment, the patients showed significant improvement in muscular strength, nutritional state and respiratory function. Electrocardiography (ECG) and echocardiography improved in both patients. They maintained good clinical conditions for a period of 18 and 20 months, respectively; thereafter they presented with an elevated and persistent fever that was not correlated to a septic status and was not responsive to any antipyretic treatment. They deteriorated progressively and died. This study shows how a multidisciplinary approach may be useful to improve, even if temporarily, the clinical course of nonclassical infantile GSD II.

Original languageEnglish
Pages (from-to)675-681
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume26
Issue number7
DOIs
Publication statusPublished - 2003

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

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