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[The Lesch-Nyhan syndrome].

A Peco-Antić¹, Z Smoljanić, N Dimitrijević

¹University Children's Hospital, Belgrade.

Srpski Arhiv Za Celokupno Lekarstvo

|April 4, 2002

Summary

Hypoxanthine phosphoribosyltransferase (HPRT) deficiency causes Lesch-Nyhan syndrome, a severe neurological disorder. This case highlights a 5-year-old boy with HPRT deficiency, presenting with abdominal pain and kidney stones.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Hypoxanthine phosphoribosyltransferase (HPRT) deficiency presents a spectrum of clinical outcomes, ranging from Lesch-Nyhan syndrome with severe neurological impairment to milder forms with only uric acid overproduction.
Lesch-Nyhan syndrome is a rare genetic disorder characterized by a deficiency in the HPRT enzyme, crucial for purine metabolism.

Observation:

A 5-year-old boy presented with acute abdominal pain, vomiting, and gross hematuria.
He exhibited severe neurological deficits including involuntary movements, spasticity, and inability to sit or stand, initially diagnosed as cerebral palsy.
Family history revealed similar "cerebral palsy" diagnoses in his brother and two uncles, who died in childhood.

Findings:

Clinical evaluation confirmed hyperuricemia and hyperuricosuria, along with renal and urinary bladder stones.

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Enzyme assays showed a complete absence of HPRT activity.

Adenine phosphoribosyltransferase activity was found to be elevated compared to controls.

Implications:

This case underscores the severe neurological and urological consequences of complete HPRT deficiency.
Genetic analysis is crucial for identifying at-risk female carriers within affected families.
Understanding HPRT deficiency is vital for early diagnosis and potential management strategies, despite treatment refusal in this instance.