| CRIM-negative infantile Pompe disease: 42-month treatment outcome. | |
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MedLine Citation:
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PMID: 20882352 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid α-glucosidase enzyme (GAA) and caused by mutations in the GAA gene. Infantile-type Pompe disease is a multiorgan disorder presenting with cardiomyopathy, hypotonia, and muscular weakness, which is usually fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) has recently been shown to be effective and subsequently yielded promising results in cross-reactive immunologic material (CRIM)-positive patients. CRIM-negative patients showed a limited response to ERT and died or were ventilator dependant. Over a period of 44 months, we monitored cognitive and motor development, behavior, auditory function, and brain imaging of a CRIM-negative infantile Pompe disease patient on rhGAA and monoclonal anti-immunoglobulin E (anti-IgE) antibody (omalizumab) treatment due to severe allergic reaction. Cardiorespiratory and skeletal muscle response was significant, with almost normal motor development. Cognitive development-in particular, speech and language-deviated increasingly from normal age-appropriate development and was markedly delayed at 44 months, unexplained by moderate sensorineural hearing impairment. Brain magnetic resonance imaging (MRI) at 18, 30, and 44 months of age revealed symmetrical signal alteration of the deep white matter. Titer values of IgG antibodies to rhGAA always remained <1:800. The potential role of omalizumab in immune modulation remains to be elucidated; however, this is the first report presenting a ventilator-free survival of a CRIM-negative patient beyond the age of 36 months. The central nervous system (CNS) findings are hypothesized to be part of a yet not fully described CNS phenotype in treated patients with longer survival. |
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Authors:
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Marianne Rohrbach; Andrea Klein; Alice Köhli-Wiesner; Dorothe Veraguth; Ianina Scheer; Christian Balmer; Roger Lauener; Matthias R Baumgartner |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-09-30 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 33 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-29 Completed Date: 2011-03-15 Revised Date: 2013-01-18 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 751-7 Citation Subset: IM |
Affiliation:
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Division of Metabolism, University Children's Hospital Zürich, Steinwiesstrasse 75, 8032 Zürich, Switzerland. Marianne.rohrbach@kispi.uzh.ch |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/#232300 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Antibodies, Anti-Idiotypic
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blood* Child, Preschool Cross Reactions / immunology Enzyme Replacement Therapy* Follow-Up Studies Glycogen Storage Disease Type II / blood, drug therapy*, immunology Humans Infant Time Factors Treatment Outcome alpha-Glucosidases / therapeutic use* |
| Chemical | |
Reg. No./Substance:
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0/Antibodies, Anti-Idiotypic; 0/anti-IgE antibodies; EC 3.2.1.20/alpha-Glucosidases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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