Shapiro syndrome is a rare neurological disease characterized by recurrent episodes of excessive sweating and hypothermia along with agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, suggested possible mechanisms include hypothalamic dysfunction, neurochemical abnormalities, inflammatory processes, and epileptic activity. Treatment aims to address the symptoms present in each individual and may include re-warming with a warm blanket and the use of medications with varying success.
Last updated: 6/6/2016
What are the signs and symptoms of Shapiro syndrome? Do the symptoms tend to worsen with time?
Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating (hyperhidrosis), and agenesis of the corpus callosum. A variant form occurs without agenesis of the corpus callosum. Additional symptoms may include nausea and vomiting; a sense of weakness, incoordination and gait unsteadiness; drowsiness, mild bradycardia; and rarely, excessive amounts of urine (polyuria) and excessive thirst (polydipsia). Episodes of hypothermia and hyperhidrosis may last for hours to weeks and recur for hours to years.
Tambasco N, Belcastro V, Prontera P, Nigro P, Donti E, Rossi A, Calabresi P. Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.. Eur J Paediatr Neurol. 2014 Jul; 18(4):453-7. https://www.ncbi.nlm.nih.gov/pubmed/24594427.
Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SH. The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome.. Ann Indian Acad Neurol. 2013 Oct; 16(4):716-9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841640/.