Lesch Nyhan, FOT high-brow post of the year?

ANNALS OF MEDICINE New Yorker article about Lesch-Nyhan syndrome, a rare disease which causes people to mutilate themselves. Writer describes a case from 1962, in which a four-and-a-half-year-old boy named Matthew was brought to Johns Hopkins Hospital. Matthew was spastic, and as an infant, had been diagnosed as having cerebral palsy and developmental retardation. His older brother was also spastic and retarded. Matthew was wearing mittens, even though it was a warm day. William L. Nyhan, a pediatrician and research scientist, along with a medical student named Michael Lesch, discovered that Matthew had bitten off parts of his fingers, and parts of his lips. They met with his older brother, who had bitten his fingers even more severely, and had chewed off his lower lip. Two years after meeting Matthew, Nyhan and Lesch published the first paper describing the disease, which came to be called Lesch-Nyhan syndrome. Boys with the disease were, and are, frequently misdiagnosed as having cerebral palsy. (Girls virtually never get it.) In 1971, Nyhan coined the term “behavioral phenotype” to describe diseases like Lesch-Nyhan, in which someone displays a pattern of characteristic actions that can be linked to genetic code. Describes the progression of a person with Lesch-Nyhan. He will scream in terror and pain during bouts of self-mutilation. In the past, many Lesch-Nyhan patients died in childhood or their teens, from kidney failure. Nowadays, they may live into their thirties and forties.

The full article is at the link above.





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