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

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 80 year 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.

• Authors: Agnieszka Pazderska, Martin O'Connell, Niall Pender, Claire Gavin, Brian Murray, Seán O'Dowd
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 329 Issue 1-2 Pg. 66-8 (Jun 15 2013) ISSN: 1878-5883 [Electronic] Netherlands
• PMID: 23578790 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• Fluorodeoxyglucose F18

Topics

• Aged, 80 and over
• Agenesis of Corpus Callosum (diagnosis, diagnostic imaging, physiopathology)
• Body Temperature Regulation (physiology)
• Female
• Fluorodeoxyglucose F18
• Humans
• Hyperhidrosis (diagnosis, diagnostic imaging, physiopathology)
• Hypothermia (diagnosis, diagnostic imaging, physiopathology)
• Magnetic Resonance Imaging
• Positron-Emission Tomography