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CRIM-negative infantile Pompe disease: 42-month treatment outcome.
J Inherit Metab Dis 2010; 33(6):751-7JI

Abstract

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.

Authors+Show Affiliations

Division of Metabolism, University Children's Hospital Zürich, Steinwiesstrasse 75, 8032 Zürich, Switzerland. Marianne.rohrbach@kispi.uzh.chNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20882352

Citation

Rohrbach, Marianne, et al. "CRIM-negative Infantile Pompe Disease: 42-month Treatment Outcome." Journal of Inherited Metabolic Disease, vol. 33, no. 6, 2010, pp. 751-7.
Rohrbach M, Klein A, Köhli-Wiesner A, et al. CRIM-negative infantile Pompe disease: 42-month treatment outcome. J Inherit Metab Dis. 2010;33(6):751-7.
Rohrbach, M., Klein, A., Köhli-Wiesner, A., Veraguth, D., Scheer, I., Balmer, C., ... Baumgartner, M. R. (2010). CRIM-negative infantile Pompe disease: 42-month treatment outcome. Journal of Inherited Metabolic Disease, 33(6), pp. 751-7. doi:10.1007/s10545-010-9209-0.
Rohrbach M, et al. CRIM-negative Infantile Pompe Disease: 42-month Treatment Outcome. J Inherit Metab Dis. 2010;33(6):751-7. PubMed PMID: 20882352.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CRIM-negative infantile Pompe disease: 42-month treatment outcome. AU - Rohrbach,Marianne, AU - Klein,Andrea, AU - Köhli-Wiesner,Alice, AU - Veraguth,Dorothe, AU - Scheer,Ianina, AU - Balmer,Christian, AU - Lauener,Roger, AU - Baumgartner,Matthias R, Y1 - 2010/09/30/ PY - 2010/04/01/received PY - 2010/09/06/accepted PY - 2010/07/05/revised PY - 2010/10/1/entrez PY - 2010/10/1/pubmed PY - 2011/3/16/medline SP - 751 EP - 7 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 33 IS - 6 N2 - 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. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/20882352/CRIM_negative_infantile_Pompe_disease:_42_month_treatment_outcome_ L2 - https://doi.org/10.1007/s10545-010-9209-0 DB - PRIME DP - Unbound Medicine ER -