Lesch-Nyhan Syndrome

LeschNyhan syndrome

Lesch-Nyhan syndrome is a condition that causes pain in the hands and feet. It’s also known as Hereditary sensory neuropathy. This condition can be treated effectively.


Lesch-Nyhan syndrome is a condition that is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). It is characterized by a combination of self-mutilation, hyperuricemia, dystonia, choreoathetosis, and musculoskeletal problems.

Patients with Lesch-Nyhan syndrome are generally developmentally delayed. They are often fragile and highly susceptible to infection. Some patients may die early in life. In most cases, the cause of death is renal failure.

The patient had deep ulcerated lesions on the tongue and lips. After the wound healing, the patient improved his general status. During the course of the treatment, he was also given botulinum toxin injections.

As with any chronic disease, a therapeutic approach is essential to help maintain the quality of life of the patient. For this reason, a mouth guard is a part of the LNS treatment plan.

A number of other therapies have been used for self-mutilating behaviour, including dental extraction, restraints, and psychotherapy. These treatments have been successful in reducing the level of self-mutilating behaviour in some patients.

A few patients have been successfully treated by deep brain stimulation. However, due to a lack of cooperation from the patient, proper follow-up was not maintained.

Despite the success of various therapeutic approaches, there are still patients who continue to engage in self-mutilating behaviour. These patients are usually not diagnosed until they are adolescents or adults.

Other forms of self-injury can occur in autism, multiple sclerosis, and congenital malformations. There are also other self-injury syndromes that are characterized by non-specific self-mutilation.

In some cases, the cause of the mutilation is the loss of perioral tissue. This is often attributed to obsessive-compulsive behaviour. But it has been unclear how the origin of this behaviour is determined.


Hyperuricemia in Lesch-Nyhan syndrome is a condition affecting children and young adults. It is characterized by a triad of symptoms. These include self-injury, cognitive dysfunction, and uric acid crystalluria. Children with Lesch-Nyhan syndrome have behavioural and neurologic problems, including poor muscle control, spasticity, and developmental delay. They may also be at risk for renal failure and urate stones.

In the absence of the enzyme Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT), purines turn into uric acid. Excess uric acid accumulates in the blood, kidneys, and bladder, which can cause gout and uric acid nephropathy. The crystalluria is associated with uric acid stones, which can be painful and irritate the joints.

There are two variants of this disease: heterozygous and partial deficiency. Patients with heterozygous LNS are diagnosed with a genetic mutation that obstructs the production of HGPRT. Some patients also have increased homocysteine levels, which can worsen the disease.

Children with Lesch-Nyhan syndrome may also exhibit self-injury and physical abuse. They may also try to hurt others. This behaviour may be a manifestation of autism, Tourette syndrome, or cerebral palsy.

The patient was treated with allopurinol, an inhibitor of the xanthine oxidase enzyme, which stimulated the urinary excretion of xanthine. Allopurinol decreased the urinary uric acid-to-creatinine ratio by 74%. However, allopurinol had no influence on the neurological features of LNS.

When treated with allopurinol, the patient’s kidney function was significantly improved. He also developed bilateral staghorn calculi, consistent with Lesch-Nyhan syndrome.

While the symptoms of Lesch-Nyhan syndrome are rare, they can lead to kidney stones and gout. As a result, paediatricians should be aware of the potential effects of this condition. Parents and doctors should always consult a physician if a child shows signs of a rare condition.

Hereditary sensory neuropathy

Hereditary sensory and autonomic neuropathies are a group of inherited disorders that are characterized by sensory and autonomic dysfunctions. Some of these disorders are inherited in an autosomal dominant fashion, while others are inherited in an autosomal recessive fashion.

The symptoms of these disorders vary depending on the type. In hereditary sensory and autonomic neuropathy, the primary symptoms are loss of sensation, slowed reflexes and abnormalities in nerves.

Lesch-Nyhan syndrome is a rare disease that is caused by a deficiency of an enzyme called HPRT. This enzyme converts hypoxanthine and guanine into uric acid. Uric acid is then excreted through the urine, causing uric acid nephrolithiasis and kidney failure. These symptoms are most common in men. However, there are reports of female patients with Lesch-Nyhan disease.

Patients may also be affected by anhidrosis and self-mutilation. In most cases, these symptoms begin around age three. Other patients have only uric acid problems. There is no cure for Lesch-Nyhan’s disease, but treatment can help the patient lead a normal life.

Hereditary sensory and autonomic neuropathies (HSA) are a group of disorders that affect the peripheral nervous system. These disorders include six different types. Typically, HSA affects the lower limbs. People with HSA usually experience open sores in their hands, but some may have hearing loss. They also have a variety of other symptoms, such as paresthesias and pain in the feet.

Affected individuals usually start out with muscle weakness in their hands and feet. Over time, their muscle weakness worsens, especially in the lower arms and legs. When this happens, walking becomes difficult.

Some people with hereditary sensory neuropathy type IA may experience shooting pain in their legs. Hearing loss is more common in some individuals.

Renal failure

Lesch-Nyhan syndrome (LNS) is a rare condition characterized by the deficiency of an enzyme called HPRT. The enzyme is responsible for the conversion of hypoxanthine and guanine into uric acid. When it is deficient, a range of clinical presentations is seen. Some patients also develop other neurologic disorders.

In some cases, the patient exhibits behavioural problems and self-injury. Other symptoms include cognitive dysfunction and severe neurological impairment.

Patients may experience recurring episodes of pain, swelling, and uric acid accumulation. This can lead to stone formation in the kidney and bladder. However, in most cases, hyperuricemia is not related to neurological damage.

Early diagnosis of LND is essential to avoid the development of renal failure and other complications. As with other renal diseases, an accurate diagnosis is possible with the help of an interprofessional team. Interprofessional cooperation can improve communication, outcomes, and patient care.

Lesch-Nyhan syndrome is usually inherited as an X-linked recessive genetic disorder. Although this disorder is primarily found in males, some females have been diagnosed with it.

The disease is characterized by neurological and musculoskeletal problems, as well as a deficiency of the HPRT enzyme. Symptoms may begin as early as 6 months of age. If untreated, uric acid can accumulate in the body and cause nephrolithiasis. A patient with Lesch-Nyhan syndrome is at risk of developing stone obstructive uropathy, a chronic kidney disease.

Diagnosis of this disorder is supported by an enzymatic assay. An erythrocyte lysate can be prepared and evaluated to estimate the activity of the HPRT enzyme.

An MRI is also used to assess the patient’s neurological status. In some cases, the patient experiences slow horizontal saccades, sensorineural hearing loss, and obstructive peripheral neuropathy.


Lesch-Nyhan Syndrome is an X-linked inherited disorder that primarily affects men. It is characterized by involuntary movements. In addition to these involuntary movements, the patient experiences spasticity, loss of motor control, and mental dysfunction.

Although it is a rare condition, a patient with this condition may have a poor prognosis. The cause of the condition is a deficiency of an enzyme called hypoxanthine-guanine phosphoribosyltransferase. This enzyme is needed to convert guanine and hypoxanthine into uric acid. As a result, a person with the disease produces more uric acid than they need, which can lead to kidney stones, bladder infections, and urinary tract irritation.

Early signs of the condition include hyperuricemia, developmental delays, and learning disabilities. A child with Lesch-Nyhan syndrome may bite their lips or fingers, bang their head on hard objects, or scratch their face. These self-mutilating behaviours can worsen during times of stress. Eventually, these behaviours can lead to permanent disfigurement.

There is no cure for this condition. However, there are treatment options that can improve the quality of life of patients with the disorder. Some of these treatments are behavioural therapies and medications to treat neurological impairments.

For instance, diazepam is used to treat anxiety symptoms. Additionally, antispasticity medications and gabapentin are used to alleviate the neurological manifestations of the disorder.

For children, physical restraints, such as arm and leg straps, can be useful. Children may need to wear protective dental mouthguards. Also, a physical therapist can coordinate treatment with other healthcare professionals, such as orthopedists.

For adults, allopurinol can be helpful in treating gout-like arthritis. Treatment may also involve lithotripsy to remove kidney stones. Depending on the severity of the disorder, a kidney transplant might be necessary.
Lesch Nyhan Syndrome – NORD (National Organization for Rare Disorders) (rarediseases.org)
Lesch-Nyhan Disease: Background, Pathophysiology, Etiology (medscape.com)

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