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    Insights into thermoregulation: A clinico-radiological description of Shapiro syndrome.

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    Authors
    Pazderska, Agnieszka
    O'Connell, Martin
    Pender, Niall
    Gavin, Claire
    Murray, Brian
    O'Dowd, Seán
    Affiliation
    Department of Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland. Electronic address: agnieszkapazderska@gmail.com.
    Issue Date
    2013-06-15
    
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    Citation
    Insights into thermoregulation: A clinico-radiological description of Shapiro syndrome. 2013, 329 (1-2):66-8 J. Neurol. Sci.
    Journal
    Journal of the neurological sciences
    URI
    http://hdl.handle.net/10147/292975
    DOI
    10.1016/j.jns.2013.03.014
    PubMed ID
    23578790
    Abstract
    Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Fewer than 50 cases have been described, almost invariably in patients presenting in childhood or early adulthood. We present a case of an 80year old woman presenting with recurrent bouts of shivering, sweating and profound malaise, who sought medical attention because the frequency and severity of attacks worsened in her later years. MRI Brain demonstrated agenesis of the corpus callosum; a rigorous work-up excluded other causes for her symptomatology. The intricate interplay of neuronal networks involved in thermoregulation remains to be fully elucidated and as such, little is known about the pathophysiological mechanisms underlying the clinical manifestations of Shapiro syndrome. We present novel data from FDG-PET imaging of our patient, demonstrating hypermetabolism in a number of brainstem and cerebellar regions during the symptomatic phase. These findings imply that aberrant thermoregulation in Shapiro syndrome involves a number of structures remote from the callosal region. We also present neuropsychometric findings in our patient, of which there have been no reports to date. We postulate that the ageing brain may be more susceptible to the paroxysmal neurochemical fluxes implicated in the syndrome.
    Item Type
    Article
    Language
    en
    ISSN
    1878-5883
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.jns.2013.03.014
    Scopus Count
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