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Case Report| Volume 42, ISSUE 5, P414-417, May 2020

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Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

  • Hyunji Ahn
    Affiliations
    Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea
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  • Go Hun Seo
    Affiliations
    3 Billion, Inc., Seoul, Republic of Korea
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  • Changwon Keum
    Affiliations
    3 Billion, Inc., Seoul, Republic of Korea
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  • Sun Hee Heo
    Affiliations
    ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
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  • Taeho Kim
    Affiliations
    ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
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  • Jeongmin Choi
    Affiliations
    ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
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  • Author Footnotes
    1 These two authors contribute equally on this work.
    Mi-Sun Yum
    Correspondence
    Corresponding authors at: Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Republic of Korea.
    Footnotes
    1 These two authors contribute equally on this work.
    Affiliations
    Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea
    Search for articles by this author
  • Author Footnotes
    1 These two authors contribute equally on this work.
    Beom Hee Lee
    Correspondence
    Corresponding authors at: Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Republic of Korea.
    Footnotes
    1 These two authors contribute equally on this work.
    Affiliations
    Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea

    ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
    Search for articles by this author
  • Author Footnotes
    1 These two authors contribute equally on this work.
Published:February 26, 2020DOI:https://doi.org/10.1016/j.braindev.2020.02.003

      Abstract

      Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic mutation in ARSA. Considering the 1 in 100 chance of an MLD carrier, co-occurrence of PMS and MLD in a patient is possible if either parent carries a heterozygous ARSA mutation. Therefore, MLD should be ruled out in PMS patients with severe neurological phenotype.

      Keywords

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