Shapiro syndrome and periodic
hypothermia have been reported approximately fifty times in the literature.
Shapiro syndrome is defined as the constellation of periodic
hypothermia and
hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic
hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond
iron-deficiency anemia have not been documented in any of the reported cases of
Shapiro syndrome or periodic
hypothermia. Though accidental and
therapeutic hypothermia have been associated with
thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic
hypothermia causing bicytopenia. In this report, we present the case of a patient with
Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for
cytopenias related to
hypothermia, and propose possible mechanisms for the finding in this case.