Literature DB >> 10513698

Hydrocephalus associated with glycogen storage disease type II (Pompe's disease).

M Sahin1, A J du Plessis.   

Abstract

The authors describe a case of hydrocephalus in an 8-month, 2-week-old infant who had been previously diagnosed with glycogen storage disease type II. Cranial imaging revealed no evidence of obstruction within the ventricular system. This case adds to the central nervous system complications associated with this disorder. Several possible mechanisms for the hydrocephalus observed in this infant are discussed.

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Year:  1999        PMID: 10513698     DOI: 10.1016/s0887-8994(99)00064-8

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  2 in total

Review 1.  An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Authors:  Aditi Korlimarla; Jeong-A Lim; Priya S Kishnani; Baodong Sun
Journal:  Ann Transl Med       Date:  2019-07

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

Authors:  Paul T McIntosh; Lisa D Hobson-Webb; Zoheb B Kazi; Sean N Prater; Suhrad G Banugaria; Stephanie Austin; Raymond Wang; David S Enterline; Donald P Frush; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2017-10-13       Impact factor: 4.797

  2 in total

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