Fourteen New Pediatric Cases of Shapiro Syndrome

Le résumé fourni par la source

BACKGROUND: Spontaneous periodic hypothermia (SPH), also known as Shapiro syndrome, is a rare syndrome characterized by paroxysmal episodes of spontaneous hypothermia. The diagnosis of SPH is based on clinical features; there are no specific instrumental tests and no agreed diagnostic criteria. The pathogenetic mechanisms underlying SPH are unclear, and from the therapeutic point of view opinions are divergent. To date, very few cases have been reported in the literature and among these only 30 are pediatric cases. We aim to expand the current knowledge of pediatric-onset SPH by reporting 14 novel cases, including six with a positive family history. RESULTS: All patients in our case series present with paroxysmal episodes of hypothermia, associated in 71% of cases with hyperhidrosis at the onset of the episodes and later with other clinical signs such as pallor (86%), sleepiness (57%), or asthenia (57%). Four patients underwent whole exome sequencing to evaluate the presence of genetic variants potentially involved in the pathogenesis of SPH, which yielded negative results. CONCLUSIONS: SPH is a rare condition and remains a diagnosis of exclusion, which must be suspected in patients presenting with paroxysmal episodes of otherwise unexplained hypothermia, with or without hyperhidrosis. Our numerous familial cases support the presence of a genetic component in the pathogenesis of SPH; further research will be needed to better understand the condition and its underlying mechanisms and to establish more effective diagnostic and treatment strategies.

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