Lesch-Nyhan Syndrome (LNS) is an uncommon hereditary issue connected to the X-chromosome.
The problem is brought about by an insufficiency of the enzyme HPRT which stands for hypoxanthine-guanine phosphoribosyl transferase. HPRT insufficiency has a spectrum of clinical features linked to it, with patients with classic LNS toward one side and patients with the overproduction of uric acid with no clear neurological or behavioural deficits – e.g., Kelley-Seegmiller Syndrome at the opposite end. In the middle are patients with changing levels of cognitive, motor, or behavioural abnormalities. LHS is shown to affect only males and the mother if carrying the genetic disorder passes is to the boy child at birth. One of the distinct highlights of LNS is self-mutilating behaviour marked by lip and finger biting that is visible once the child turns two years of age.
The 3 primary highlights of the LNS are:
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Excessive creation of uric acid
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Neurological issues, general learning disability, spastic cerebral palsy, and choreoathetosis
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Behavioural issues
Symptoms
According to a report documented with the National Organization for Rare Disorders (NORD), the symptoms of LNS may become visible as early as 6 months of age.
Some very specific symptoms are:
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Orange coloured crystal-like deposits in the diapers of infants with this disorder
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Urate stones in kidneys of the affected infants
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Pain and swelling of the joints
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Older children might suffer from gout
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Neurological symptoms start before the age of 1 year: – dystonia, chorea
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Inability to sit upright
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Failure to reach developmental milestones
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They also experience hypertonia, spasticity, and hyperreflexia
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Intellectual disability may occur
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The most striking feature of a child suffering from LNS is self-mutilation
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Behavioural abnormalities like aggressiveness, vomiting, and spitting are often seen
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Additionally, some children show irritability or screaming behaviours
Treatment
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The treatment for LNS is symptomatic.
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Allopurinol is utilized for the treatment of gout
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Baclofen, benzodiazepines assist with spasticity
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Behavioural irregularities are overseen utilizing behaviour modification technique along with medicine
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A dental extraction may be needed for controlling self-injury by biting.
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Surgery for muscular and joint issues because of neurological issues
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Kidney stones can be treated with lithotripsy
Prevention
There are no specific guidelines to prevent LNS and meeting with a genetic counsellor would help if there is a family background of this condition before choosing to have kids.
Importance of Professional Counseling: A friend or family member may listen to you, but they aren’t professionally, technically qualified or experienced to offer you professional advice. If you wish you can contact us at MindTribe to receive help from our team of expert psychologists.
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About the Author.
Rujusmitaa Panicker is a psychologist at MindTribe.in. You can learn more about her by clicking here
Disclaimer: The views and opinions expressed in this article are those of the author and do not necessarily reflect the official policy or position of MindTribe.in, the Founders, or management team.
Acknowledgement: All images used are open source and from Unsplash.