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  • Title: Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.
    Author: Watanabe S, Murayama A, Haginoya K, Tanaka S, Togashi N, Abukawa D, Sato A, Imaizumi M, Yoshikawa H, Takayama R, Wakusawa K, Kobayashi S, Sato I, Onuma A.
    Journal: Brain Dev; 2012 Feb; 34(2):151-5. PubMed ID: 21507589.
    Abstract:
    Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
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