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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

Publication ,  Journal Article
McIntosh, PT; Hobson-Webb, LD; Kazi, ZB; Prater, SN; Banugaria, SG; Austin, S; Wang, R; Enterline, DS; Frush, DP; Kishnani, PS
Published in: Mol Genet Metab
February 2018

BACKGROUND: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. METHODS: Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT. Follow-up neuroimaging was performed in eight. RESULTS: Sixteen patients (70%) had neuroimaging abnormalities consisting of ventricular enlargement (VE) and/or extra-axial cerebrospinal fluid accumulation (EACSF) at baseline, with delayed myelination in two. Follow-up neuroimaging (n=8) after 6-153months showed marked improvement, with normalization of VE and EACSF in seven patients. Two of three patients imaged after age 10years demonstrated white matter changes, with one noted to have a basilar artery aneurysm. CONCLUSIONS: Mild abnormalities on brain imaging in untreated or newly treated patients with IPD tend to resolve with time, in conjunction with ERT. However, white matter changes are emerging as seen in Patients 1 and 3 which included abnormal periventricular white matter changes with subtle signal abnormalities in the basal ganglia and minimal, symmetric signal abnormalities involving the deep frontoparietal cerebral white matter, respectively. The role of neuroimaging as part of the clinical evaluation of IPD needs to be considered to assess for white matter changes and cerebral aneurysms.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

February 2018

Volume

123

Issue

2

Start / End Page

85 / 91

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Neuroimaging
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Female
  • Enzyme Replacement Therapy
 

Citation

APA
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MLA
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McIntosh, P. T., Hobson-Webb, L. D., Kazi, Z. B., Prater, S. N., Banugaria, S. G., Austin, S., … Kishnani, P. S. (2018). Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab, 123(2), 85–91. https://doi.org/10.1016/j.ymgme.2017.10.005
McIntosh, Paul T., Lisa D. Hobson-Webb, Zoheb B. Kazi, Sean N. Prater, Suhrad G. Banugaria, Stephanie Austin, Raymond Wang, David S. Enterline, Donald P. Frush, and Priya S. Kishnani. “Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.Mol Genet Metab 123, no. 2 (February 2018): 85–91. https://doi.org/10.1016/j.ymgme.2017.10.005.
McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, et al. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018 Feb;123(2):85–91.
McIntosh, Paul T., et al. “Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.Mol Genet Metab, vol. 123, no. 2, Feb. 2018, pp. 85–91. Pubmed, doi:10.1016/j.ymgme.2017.10.005.
McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, Wang R, Enterline DS, Frush DP, Kishnani PS. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018 Feb;123(2):85–91.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

February 2018

Volume

123

Issue

2

Start / End Page

85 / 91

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Neuroimaging
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Female
  • Enzyme Replacement Therapy