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Lesch-nyhan Syndrome Pictures

What is Lesch-Nyhan Syndrome ?

Lesch–Nyhan syndrome is a rare and inheritable disease caused due to mutations in the HPRT gene situated on the X chromosome that results in deficiency of HGPRT enzyme. This deficiency in the HGPRT enzyme affects the body’s mechanism of building and breaking down purines. The makeup of the genetic blueprint of the body is assisted by purines which are a typical part of the human tissue.

Lesch–Nyhan Syndrome Symptoms

The symptoms are evident in infants within 3 to 12 months of birth and progresses with age. Some of the symptoms of Lesch–Nyhan syndrome are as follows:

Most of the patients are males and have growth and developmental delays, delay in reaching puberty and shrunken testicles.
The overproduction of uric acid presents one of the primary signs of Lesch–Nyhan syndrome in the form of orange and grainy crystals of uric acid in the diapers of the infant. This may lead to kidney stones or production of stones in the bladder or uterus and development of crystals of uric acid.
The crystals of uric acid may cause arthritis which is gout-like, tender and swollen. It may also lead to blood in the urine as well as infections of the urinary tract.
Impairment of the nervous system
Infant milestones like sitting up or rolling over are delayed.
Poor muscle tone
Delayed or speech defects
Extensive loss of motor control that can prevent patients from walking and relegate them to a wheelchair.
Arching of the spine
Writing motions and spasms
Reflexes that are overactive
Behavioral disturbances that include self injuring behavior
Self injuring behaviour includes incessant biting of the lips or the tips of the fingers and head banging.
Cognitive deficits that result in behaviors such as meeting kindness with anger and coldness, desire to succeed and studying hard but still answering tests incorrectly, etc.
Compulsive acts or behaviors such as vomiting, aggressiveness, involuntary swearing and spitting.

Lesch–Nyhan Syndrome Causes

Lesch–Nyhan syndrome is caused by mutations of the HPRT gene.
It is heritable and is usually passed from the mother to the son.

Lesch–Nyhan Syndrome Treatment

The use of allopurinol and generous hydration for stop the overproduction of uric acid
Benzodiazepines and antispasticity agents to alleviate the neurological impairments.
Behavior modification therapies along with medications like neuroleptics to prevent self injuring behavior
Surgery for removal of kidney stones