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We present a case of Shapiro’s syndrome, characterised by the clinical triad of episodic hypothermia, hyperhydrosis and agenesis of the corpus callosum.
A 74-year-old otherwise healthy woman presented with episodes of generalised flushing followed by profuse sweating culminating in a chill during the last couple of weeks. Her daughter described progressive difficulty with speech, memory and clumsiness on walking as well as general weakness. A similar episode occurred 5 years ago with a symptom-free interval in between. On admission she was awake but mute and motionless showing signs of cerebellar ataxia. Core temperature was 32 °C, blood pressure 90/60 mm Hg. Laboratory investigations showed a slightly increased CRP as a possible infectious trigger, but no focus was found. MRI revealed complete agenesis of the corpus callosum with dilated occipital horns. EEG showed mild diffuse slowing without epileptiform discharges.Polysomnography demonstrated significantly reduced REM-sleep. The patient was treated with lorazepam and clonazepam which reduced cognitive impairment as well as episodes of hypothermia after an initial two-day period of somnolence.

Conclusion: Abnormal sleep/wake-patterns have been described in Shapiro’s syndrome. We present a case of Shapiro’s syndrome with significantly reduced REMsleep so far described in patients with sole agenesis of the corpus callosum.