In July 1998 Alex was also diagnosed as suffering from "Shapiro's Syndrome" or "Recurrent Spontaneous Hypothermia with Hyperhidrosis" in addition to or as part of the Trisomy 18 mosaicism diagnosis.

Shapiro's Syndrome was first described by W. R. Shapiro, G.H. Williams and F. Plum in 1969. (Brain, 1969, 92:2,423-36) It is characterised by recurrent episodes of hypothermia (abnormally low body temperature), hyperhidrosis (excessive sweating) and agenesis of the corpus callosum. Generally there is also an absence of sweating, associated bradycardia (slow heart rate), hypotension (low blood pressure) and other symptoms of hypothermia.

I have included a section on these episodes and on Shapiro's Syndrome in my web site as I am interested in contacting others who may be interested in Shapiro's Syndrome and those who are affected by it, whether or not it is in conjunction with Trisomy 18. It is certainly an extremely difficult syndrome to live with and manage. For Alex it is one of the most life threatening problem's that he has.

 

 

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