Document Detail

CRIM-negative infantile Pompe disease: 42-month treatment outcome.
MedLine Citation:
PMID:  20882352     Owner:  NLM     Status:  MEDLINE    
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.
Marianne Rohrbach; Andrea Klein; Alice Köhli-Wiesner; Dorothe Veraguth; Ianina Scheer; Christian Balmer; Roger Lauener; Matthias R Baumgartner
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-09-30
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  33     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-29     Completed Date:  2011-03-15     Revised Date:  2013-01-18    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  751-7     Citation Subset:  IM    
Division of Metabolism, University Children's Hospital Zürich, Steinwiesstrasse 75, 8032 Zürich, Switzerland.
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MeSH Terms
Antibodies, Anti-Idiotypic / blood*
Child, Preschool
Cross Reactions / immunology
Enzyme Replacement Therapy*
Follow-Up Studies
Glycogen Storage Disease Type II / blood,  drug therapy*,  immunology
Time Factors
Treatment Outcome
alpha-Glucosidases / therapeutic use*
Reg. No./Substance:
0/Antibodies, Anti-Idiotypic; 0/anti-IgE antibodies; EC

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