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Registered Charity No: 1130455

The History of Menkes

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In 1962, Viennese born Paediatrician and American Physician John Hans Menkes described the condition that he had found in 5 related boys, all of whom died before the age of 3 years. Each child was born without incident, but gained little weight postpartum. Their hair was coarse, brittle and ivory white, the result of depigmentation.

Under the microscope, their hair fibres appeared twisted helically of broken in several places.

In the first year of life, each of the infants developed seizures; and post-mortem analysis showed both cerebral and cerebellar degeneration.

This condition became known as Menkes Disease and over the next few years, other clinical symptoms would be added to the condition including, hypothermia, thrombosis, poor bone development, and an increased tendency toward aneurysms.

John Hans Menkes (1928-2008)

 

 

 

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