Shapiro's Syndrome (Spontaneous Periodic Hypothermia) in a Child: A Case Report

Abstract

Aims: To describe a paediatric case of spontaneous periodic hypothermia (Shapiro's syndrome) occurring in the absence of agenesis of the corpus callosum, and to review the relevant literature and diagnostic approach. Presentation of Case: A 2-year-and-9-month-old boy, previously managed twice for intestinal intussusception, was referred after a one-month history of recurrent hypothermic episodes associated with transient alterations of consciousness. Seven episodes were documented by the medical and nursing staff, with axillary temperatures between 33 °C and 35 °C lasting two to seven hours. The episodes were frequently accompanied by profuse sweating, generalised pallor, and occasional shivering, and were sometimes preceded by a febrile peak of 39 °C. Throughout the hypothermic phases, the child remained haemodynamically stable, with preserved oxygen saturation and blood glucose. Biological work-up showed no evidence of infection or inflammation (C-reactive protein, procalcitonin, and cultures were negative), viral serologies were negative, and thyroid function, cortisol, electrolytes, renal and hepatic function were normal. Both brain magnetic resonance imaging (MRI) and electroencephalography (EEG) were unremarkable, with a structurally normal corpus callosum. Discussion: After exclusion of metabolic, infectious, endocrine, and structural neurological causes, a diagnosis of a variant of Shapiro's syndrome without agenesis of the corpus callosum was retained. The clinical sequence observed in our patient is consistent with the prevailing hypothesis of a transient downward shift of the hypothalamic thermoregulatory set-point. Management was conservative, with no pharmacological treatment initiated; at the last available follow-up, three months after discharge, the frequency of episodes had markedly decreased, with three episodes over that interval. Conclusion: Spontaneous periodic hypothermia, although rare, should be considered in children presenting with recurrent unexplained hypothermia once more common causes have been ruled out.