Sometimes, the body can turn against itself in ways that are hard to understand. Lesch-Nyhan Syndrome is one such condition, marked by symptoms that don’t fit the usual patterns. This rare disorder brings physical, neurological, and behavioral challenges that leave families looking for answers. But what exactly is Lesch-Nyhan Syndrome, and how does it affect those who live with it?
Dr. Priyam Agrawal, MBBS, a General Physician from Mumbai took his Instagram to share awareness about this rare condition. He talks about how this rare genetic condition leads to various symptoms including self-mutilaton.
Lesch-Nyhan syndrome is an extremely rare X-linked recessive disorder ( occurs almost exclusively in males) where there is increased purine levels due to severe inborn deficiency of the hypoxanthine-guanine phosphoribosyl transferase (HPRT) enzyme. It is characterized by neurological and behavioral abnormalities
In this condition, When this enzyme is lacking, purines are broken down but not recycled, producing abnormally high levels of uric acid. Uric acid is a natural waste product of chemical processes and is found in blood and urine.(1,2)
The early noted signs of Lesch-Nyhan syndrome include:
Poor muscle control and developmental delays.
Orange crystals in diapers due to excess uric acid (in some cases).
After this other symptoms start to appear which include the following:
1. Compulsive Self-Injury:
This behavior is the most disturbing symptom of this condition, which involves Banging head or limbs, Biting lips, fingers, and cheeks, Poking eyes and Aggression towards others is also noted (verbal abuse, hitting, pinching).
2. Muscle and Movement Problems:
Constant repetitive movements (ballismus).
Difficulty with crawling, walking, and feeding.
Trouble swallowing (dysphagia).
Exaggerated reflexes (hyperreflexia).
Muscle spasms causing arched back (opisthotonos).
Involuntary movements (dystonia, choreoathetosis, chorea).
Muscle stiffness (spasticity).
Slurred or slow speech (dysarthria).
3. Related Health Issues:
Bladder stones.
Kidney stones and kidney failure.
Gout.
Anemia due to vitamin B12 deficiency.
Repeated vomiting.
4. Learning and Cognitive Challenges:
Learning disabilities, Poor memory and short attention span, Difficulty with complex planning.(3)
Lesch-Nyhan syndrome can be diagnosed through a regular physical exam by the health care provider.
A family history along with signs of Developmental delays, Excess uric acid through a blood or urine test, Self-injury behavior is also characteristic to Lesch-Nyhan syndrome.(3)
The disease is so rare that there is no cure for this condition as of now, however symptomatic treatment to reduce uric acid levels or behavioral therapy is implemented.
Dr. Priyam Agrawal, MBBS, General Physician, Mumbai
Healthcare providers help manage symptoms for a better quality of life by the following methods:
1. Medications: To treat excess uric acid or ease behavioral problems.
2. Feeding support
3. Physical and occupational therapy: For movement and muscle problems.
4. Splint or mouthguard: To prevent involuntary movements such as finger biting.(3)
The prognosis for Lesch-Nyhan syndrome is generally poor as usually they are unable to walk and require a wheelchair, have short lifespans, and rarely live more than 20 years due to complications.(3)
References
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921883/ (cited on 05/09/2024)
https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/ (cited on 05/09/2024)
https://my.clevelandclinic.org/health/diseases/23493-lesch-nyhan-syndrome (cited on 07/09/2024)
MSM
