Saturday August 2, 2008


Case: You have been called to ER to consult a critically ill 42 year old male who presented with mental status change and hypotension. Lab shows finding of pre-renal azotemia with acute renal failure (ARF). Wife reports chills and 'very very excessive sweating' since last 3 months, progressively getting worse. Patient was also reported to be hypothermic. Your diagnosis was simple septic shock and you argued about CT scan of head which was done by ER physician. Meanwhile, you received call from radiologist with report of CT head and he strongly recommends MRI of brain to confirm findings. You agreed and it showed agenesis of the corpus callosum. What is your diagnosis?

Diagnosis: Shapiro's Syndrome

Shapiro's Syndrome is characterised by recurrent episodes of hypothermia, hyperhidrosis and agenesis of the corpus callosum. Shapiro syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). Onset is typically in adulthood. Hyperhidrosis can be so severe that it may cause acute renal failure. Different treatments has been described including cyproheptadine, clonidine, glycopyrrolate or topiramate.


*Shapiro's Syndrome was first described by W. R. Shapiro, G.H. Williams and F. Plum in 1969.



References: Click to get abstract/article

1. Agenesis of the corpus callosum associated with paroxysmal hypothermia: Shapiro's syndrome. Neth J Med. 1997 Jan;50(1):29-35.
2. Clonidine therapy for Shapiro's syndrome. Q J Med. 1992 Mar;82(299):235-45.
3. HYPOTHALAMIC DYSFUNCTION IN SHAPIRO'S SYNDROME MAY CAUSE ABNORMALITIES OF THIRST AND APPETITE PERCEPTION Endocrine Abstracts (2002) 4 P24
4. Shapiro's Syndrome: A Renewed Appreciation for Vital Signs Clinical Infectious Diseases 2004;38:e107–e108