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Daily Archives: September 25, 2012

Nightmare Sperm Donation

It seems that a Danish sperm donation facility failed to determine that one of its donors had an uncommon genetic disorder and might have passed it along to several of his “offspring.” The usual screening apparently failed to uncover the genetic markers for the disorder and as many as five children might have “inherited” the abnormal genes.

The disease in question is called Neurofibromatosis Type 1, or Von Recklinghausen’s Disease. It is characterized by multiple types of neurological tumors and cafe-au-lait spots–patches of light brown pigmentation whose color is reminiscent of coffee with milk.

 

Severe Neurofibromatosis

Severe Neurofibromatosis

 

Cafe au lait spots (black arrows) and a Neurofibroma (white arrow)

 

Though controversial, and over the years other diagnoses have been entertained, this might be the disorder that afflicted Joseph Merrick, The Elephant Man.

 

Joseph Merrick, The Elephant Man

 

A medical nightmare for these children and their families.

 

 
 
 
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