Day 1: The Case

Martha and Eliot D. were two healthy adults in their early twenties who took their 2 month old son, Rick, to his first “well baby” check up. The doctors noticed something was wrong and the baby had the following

 Symptoms:

•          Rick has short white stubby hair
•         Child has barely grown
•         Child does not respond to his surroundings
•       Tests reveal brain degeneration
•        Artery abnormalities
•      Weak bones

The doctor took a different hair samples from Rick and sent them to John Hopkins University for microscopic analysis. The results show that his hairs are unusually twisted which confirms the doctor’s diagnosis of Menkes syndrome. Rick inherited this disease because his mother was a carrier of Menkes syndrome.