Clinical characteristics of early juvenile GM2 gangliosidosis: a case report

DOI
  • Ono Hiroya
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University Department of Pediatrics, Center Hospital of the National Center for Global Health and Medicine
  • Sugiura Chitose
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University
  • Narita Aya
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University
  • Ohno Koyo
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University
  • Saito Yoshiaki
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University
  • Maegaki Yoshihiro
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University
  • Murakami Nagako
    Department of Pediatrics, Nippon Koukan Fukuyama Hospital
  • Nanba Eiji
    Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University

Bibliographic Information

Other Title
  • 特異な臨床症状・画像所見を伴った若年性GM2ガングリオシドーシスの15歳男子例

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Description

<p>  We describe the case of a 15-year-old male with early juvenile type GM2 gangliosidosis. He first manifested with progressive clumsiness in his extremities at the age of 1.5 years, followed by motor regression. Intellectual disability became evident as late as age 6 years. This discrepancy along with rapid motor deterioration after varicella infection, lack of startle response or macrocephaly, and paucity of myoclonus were thought to be characteristic of juvenile GM2 gangliosidosis. In contrast to the cerebellar atrophy as the initial finding in usual juvenile GM2 gangliosidosis, magnetic resonance imaging revealed initially cerebral, and subsequently cerebellar, progressive atrophy. Autistic behavioral problems, including phonophobia, during intellectual regression in this patient was also unusual in juvenile GM2 gangliosidosis. Thus, recognition of these features would prompt proper diagnosis and insights into the pathomechanisms of GM2 gangliosidosis.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 49 (3), 203-206, 2017

    The Japanese Society of Child Neurology

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