simple explanations of interesting brain conditions

The Horrors of Lesch-Nyhan Syndrome

Just a warning, this one is far more gruesome than most of the other conditions I’ve covered. Lesch-Nyhan syndrome involves children who suffer from extreme self-injurious behaviour.

Lesch-Nyhan syndrome is a rare genetic disorder which affects around one in 380,000 people. There are three hallmark symptoms of Lesch-Nyhan; neurologic dysfunction, body fluid issues and behavioural disturbances such as self-harm [1]. This self-harming, which often begins within the first year of life, often includes biting of the lips, cheeks and tongue, severe finger chewing, and head banging. Although the sufferer’s sensation of pain is fully intact, they are powerless to resist these impulses. Many children have their teeth removed and must remain restrained at all times.

One Indian study describes a boy, born into a family with no history of neurological or psychiatric illness, who began self-harming at the age of three [2]. He began with the usual biting of his lips, cheeks and tongue, and gradually moved to banging his head and scratching his face. By age one he had begun repeatedly poking his fingers into his eyes and picking his eyelids. The study shows photographs of the boy, whose eyes are swelled to the point where I doubt he can see.

Aside from this self-harming, patients also suffer moderate to severe mental and physical disabilities. Many still have a functional mind and full personality, but communication is difficult and they often have a lot of trouble speaking. No drug has been effective in treating these dysfunctions, and most patients will die by their second or third decade of life.

Bellow you can watch a video on Lesch-Nyhan patient Bill. Although Bill clearly faces a constant internal assault, you’ll see that his personality and intelligence still shine through.

Living with Lesch-Nyhan: the Story of Bill (2010)

There really isn’t much more to say about this horrible condition. I’ve researched a lot of suffering as part of this blog, but nothing has approached the level of heart-breaking horror caused by Lesch-Nyhan. I take some comfort in that beautiful smile of Bill’s, but more than that I look forward to a world in which this suffering doesn’t exist. I should also say that I’m sorry to have burdened you with this knowledge, but I’m glad that you’ve joined me in recognizing and honouring the struggle of these poor, brave people.

References

All images produced by the author unless otherwise specified.

  1. Gupta, M., Mahajan, V. K., Sharma, V., Chauhan, P. S., & Mehta, K. S. (2014). LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.Our Dermatology Online / Nasza Dermatologia Online, 5(1), 65-67. doi:10.7241/ourd.20141.17
  2. Mohapatra, S., & Sahoo, A. J. (2016). Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.Indian Journal Of Psychological Medicine, 38(5), 477-479. doi:10.4103/0253-7176.191389

 

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