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

Hdl Handle:
http://hdl.handle.net/10147/292975
Title:
Insights into thermoregulation: A clinico-radiological description of Shapiro syndrome.
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.
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
Issue Date:
15-Jun-2013
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

Full metadata record

DC FieldValue Language
dc.contributor.authorPazderska, Agnieszkaen_GB
dc.contributor.authorO'Connell, Martinen_GB
dc.contributor.authorPender, Niallen_GB
dc.contributor.authorGavin, Claireen_GB
dc.contributor.authorMurray, Brianen_GB
dc.contributor.authorO'Dowd, Seánen_GB
dc.date.accessioned2013-05-29T09:12:31Z-
dc.date.available2013-05-29T09:12:31Z-
dc.date.issued2013-06-15-
dc.identifier.citationInsights into thermoregulation: A clinico-radiological description of Shapiro syndrome. 2013, 329 (1-2):66-8 J. Neurol. Sci.en_GB
dc.identifier.issn1878-5883-
dc.identifier.pmid23578790-
dc.identifier.doi10.1016/j.jns.2013.03.014-
dc.identifier.urihttp://hdl.handle.net/10147/292975-
dc.description.abstractShapiro 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.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Journal of the neurological sciencesen_GB
dc.titleInsights into thermoregulation: A clinico-radiological description of Shapiro syndrome.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland. Electronic address: agnieszkapazderska@gmail.com.en_GB
dc.identifier.journalJournal of the neurological sciencesen_GB
dc.description.provinceLeinsteren

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