Nicola Tambasco1, Federico Paolini Paoletti1, Giulia Prato2, Maria Margherita Mancardi2, Paolo Prontera3, Lucio Giordano4, Salvatore Grosso5, Antonino Romeo6, Francesca Pinto7, Salvatore Savasta8, Cinzia Peruzzi9, Michele Romoli1, Pasquale Striano10, Alberto Verrotti11, Vincenzo Belcastro12. 1. Neurology Department, University General Hospital, Perugia, Italy. 2. Neuropsychiatry Unit, Department of Clinical and Surgical Neurosciences and Rehabilitation, "G. Gaslini" Institute, Genoa, Italy. 3. Medical Genetics Unit, "S. Maria della Misericordia" Hospital, Perugia, Italy. 4. Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy. 5. Clinical Pediatrics, Pediatric Neurology Unit, Department of Molecular and Reproductive Medicine, University of Siena, Siena, Italy. 6. Pediatric Neurology Unit and Epilepsy Center, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy. 7. Department of Pediatrics, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy. 8. Department of Paediatrics, University of Pavia, IRCCS Policlinico "San Matteo", Pavia, Italy. 9. Neuropsychiatry Unit, AOU della Carità, Novara, Italy. 10. Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, "G. Gaslini" Institute, Genova, Italy. 11. Department of Pediatrics, University of L'Aquila, Italy. 12. Neurology Unit, S. Anna Hospital, Como, Italy. Electronic address: vincenzobelcastro@libero.it.
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.
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.