Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome)

Società Italiana Neurologia Pediatrica (SINP) Collaborative Network

Research output: Contribution to journalArticle

Abstract

INTRODUCTION: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients.

METHODS: We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome.

RESULTS: All patients experienced recurring hypothermia, with body temperature below 35 °C during the episodes, often accompanied by hyperidrosis. CC agenesis was an inconstant structural feature in the present series (2/13 patients). Seven patients received antiepileptic drugs (AEDs) or other drug therapy for a mean period of 12 months. At long-term follow-up (mean = 61 months, range: 60-96), all individuals were free from episodes of paroxysmal hypothermia independently from previous AED use or other drug therapy.

CONCLUSION: Paroxysmal hypothermia, the core symptom of SS, behaved as a age-dependent feature in our cohort, supporting a good long-term prognosis for SS. A prompt diagnosis of SS is crucial to avoid unnecessary diagnostic investigations.

Original languageEnglish
Pages (from-to)1081-1086
Number of pages6
JournalEuropean Journal of Paediatric Neurology
Volume22
Issue number6
DOIs
Publication statusPublished - Nov 2018

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Hypothermia
Pediatrics
Agenesis of Corpus Callosum
Anticonvulsants
Hyperhidrosis
Drug Therapy
Body Temperature
Shapiro syndrome

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Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome). / Società Italiana Neurologia Pediatrica (SINP) Collaborative Network.

In: European Journal of Paediatric Neurology, Vol. 22, No. 6, 11.2018, p. 1081-1086.

Research output: Contribution to journalArticle

Società Italiana Neurologia Pediatrica (SINP) Collaborative Network. / Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome). In: European Journal of Paediatric Neurology. 2018 ; Vol. 22, No. 6. pp. 1081-1086.
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abstract = "INTRODUCTION: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients.METHODS: We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome.RESULTS: All patients experienced recurring hypothermia, with body temperature below 35 °C during the episodes, often accompanied by hyperidrosis. CC agenesis was an inconstant structural feature in the present series (2/13 patients). Seven patients received antiepileptic drugs (AEDs) or other drug therapy for a mean period of 12 months. At long-term follow-up (mean = 61 months, range: 60-96), all individuals were free from episodes of paroxysmal hypothermia independently from previous AED use or other drug therapy.CONCLUSION: Paroxysmal hypothermia, the core symptom of SS, behaved as a age-dependent feature in our cohort, supporting a good long-term prognosis for SS. A prompt diagnosis of SS is crucial to avoid unnecessary diagnostic investigations.",
author = "{Societ{\`a} Italiana Neurologia Pediatrica (SINP) Collaborative Network} and Nicola Tambasco and Paoletti, {Federico Paolini} and Giulia Prato and Mancardi, {Maria Margherita} and Paolo Prontera and Lucio Giordano and Salvatore Grosso and Antonino Romeo and Francesca Pinto and Salvatore Savasta and Cinzia Peruzzi and Michele Romoli and Pasquale Striano and Alberto Verrotti and Vincenzo Belcastro",
note = "Copyright {\circledC} 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.",
year = "2018",
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T1 - Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome)

AU - Società Italiana Neurologia Pediatrica (SINP) Collaborative Network

AU - Tambasco, Nicola

AU - Paoletti, Federico Paolini

AU - Prato, Giulia

AU - Mancardi, Maria Margherita

AU - Prontera, Paolo

AU - Giordano, Lucio

AU - Grosso, Salvatore

AU - Romeo, Antonino

AU - Pinto, Francesca

AU - Savasta, Salvatore

AU - Peruzzi, Cinzia

AU - Romoli, Michele

AU - Striano, Pasquale

AU - Verrotti, Alberto

AU - Belcastro, Vincenzo

N1 - Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

PY - 2018/11

Y1 - 2018/11

N2 - INTRODUCTION: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients.METHODS: We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome.RESULTS: All patients experienced recurring hypothermia, with body temperature below 35 °C during the episodes, often accompanied by hyperidrosis. CC agenesis was an inconstant structural feature in the present series (2/13 patients). Seven patients received antiepileptic drugs (AEDs) or other drug therapy for a mean period of 12 months. At long-term follow-up (mean = 61 months, range: 60-96), all individuals were free from episodes of paroxysmal hypothermia independently from previous AED use or other drug therapy.CONCLUSION: Paroxysmal hypothermia, the core symptom of SS, behaved as a age-dependent feature in our cohort, supporting a good long-term prognosis for SS. A prompt diagnosis of SS is crucial to avoid unnecessary diagnostic investigations.

AB - INTRODUCTION: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients.METHODS: We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome.RESULTS: All patients experienced recurring hypothermia, with body temperature below 35 °C during the episodes, often accompanied by hyperidrosis. CC agenesis was an inconstant structural feature in the present series (2/13 patients). Seven patients received antiepileptic drugs (AEDs) or other drug therapy for a mean period of 12 months. At long-term follow-up (mean = 61 months, range: 60-96), all individuals were free from episodes of paroxysmal hypothermia independently from previous AED use or other drug therapy.CONCLUSION: Paroxysmal hypothermia, the core symptom of SS, behaved as a age-dependent feature in our cohort, supporting a good long-term prognosis for SS. A prompt diagnosis of SS is crucial to avoid unnecessary diagnostic investigations.

U2 - 10.1016/j.ejpn.2018.08.004

DO - 10.1016/j.ejpn.2018.08.004

M3 - Article

VL - 22

SP - 1081

EP - 1086

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 6

ER -