Shapiro syndrome: a cause of episodic hyperhidrosis, hypothermia and altered mental status.

Abstract

Shapiro syndrome is characterized by recurrent episodes of hypothermia and hyperhidrosis, with agenesis of the corpus callosum. This is a rare condition with only approximately 60 cases described worldwide. We describe a case of Shapiro syndrome. A 50-year-old Indian man with diabetes and hypertension presented with a 3-month history of frequent episodic profuse hyperhidrosis, accompanied by postural giddiness and confusion. He had episodes of isolated hyperhidrosis 20 years ago which had spontaneously resolved. These episodes re-emerged 3 years prior to presentation, with increasing frequency over the last 3 months. Previous extensive investigations, including a positron emission tomography (PET) scan were normal and he was treated for anxiety. During his inpatient stay, he was observed to have recurrent episodes of hypothermia (lowest temperature recorded 31.3 degrees Celsius), labile blood pressure (systolic ranging from 71mmHg to 175mmHg) and pulse rate (38/min to 214/min). Apart from slow responses to routine questioning, the rest of his neurological examination was normal. Extensive investigations looking for malignancy, autoimmune diseases and infections were unremarkable. CSF studies were negative for inflammation or infection. Magnetic resonance imaging of the brain demonstrated agenesis of the corpus callosum and schizencephaly. Based on his symptoms of hyperhidrosis, hypothermia and imaging findings, a diagnosis of Shapiro syndrome was made. He was treated with clonidine and levetiracetam with good response. Shapiro syndrome is characterized by a triad of episodic hyperhidrosis, hypothermia and agenesis of the corpus callosum. Recognition of this rare condition is important to direct effective treatment.