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Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II
Author(s) -
Bembi B.,
Ciana G.,
Martini C.,
Benettoni A.,
Gombacci A.,
Deganuto M.,
Pittis M. G.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000005618.76542.ed
Subject(s) - human genetics , medicine , metabolic disease , multidisciplinary approach , pediatrics , intensive care medicine , genetics , biology , social science , sociology , gene
Summary: 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.