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.
the microscope, their hair fibres
appeared twisted helically of broken in
the first year of life, each of the
infants developed seizures; and
post-mortem analysis showed both
cerebral and cerebellar degeneration.
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.
Hans Menkes (1928-2008)