Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior

Tewari, Nitesh; Mathur, Vijay Prakash; Sardana, Divesh; Bansal, Kalpana

doi:10.5582/irdr.2016.01076

Cited by 10 publications

(14 citation statements)

References 13 publications

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“…With moderate extrapyramidal insufficiency (residual activity HGPRT ≈ 8 %) life expectancy is much longer, patients are teachable and can acquire some specialties [3,5,[7][8][9]. However, in case of late diagnosis, neurological symptoms, nephrolithiasis, chronic renal failure progress resulting in patient`s disability [11].…”

Section: Discussionmentioning

confidence: 99%

“…Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder, which main pathogenetic link is the expression disturbance of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)specific enzyme involved in purine recycling [3][4][5][6][7][8]. The disease is characterized by presence of the classical triad:…”

Section: Introductionmentioning

confidence: 99%

“…This, consequently, leads to hyperuricemia and gout development. Neurological disorders in Lesch-Nyhan syndrome are thought to be caused by a disturbance of neurotransmitters synthesis in the brain dopaminergic systems, which explains the behavioral and motor disorders in such patients [3][4][5][6][8][9][10]. Kidneys affection is characterized by a similar to gouty nephropathy clinical picture and includes urate crystalluria, recurrent pyelonephritis on the urolithiasis background and, if left untreated, it leads to the development of chronic kidney failure [5,8].…”

Section: Introductionmentioning

confidence: 99%

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LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case

Ханюков

Chornyi

Yevstihnieiev

et al. 2021

The Journal of v. N. Karazin Kharkiv National University, Series "Medicine"

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Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease is characterized by presence of the classical triad: hyperuricemia, neurological and behavioral changes. In the article we present a clinical case of Lesch-Nyhan syndrome first diagnosed only at 16 years old despite the fact that the clinical clues were already found at the patient`s early age. Case presentation. An 18-year-old Caucasian man was admitted to the rheumatology department because of gouty arthritis. In neonatal period he was diagnosed with mild intrauterine growth restriction by hypoplastic type. Uric acid crystals were found in our patient`s urine at 6-month-old. In the first year of life, delayed motor development was noted together with permanent neurological changes which were referred to rickets. During school years, severe dysgraphia, dyslexia, dysarthria, logoneurosis warranted observation by a speech therapist. At his 12 he had been diagnosed with nephrocalcinosis, at 14 – with chronic kidney disease and symptomatic arterial hypertension. The family history was remarkable for gout in grandmother and great-grandmother, chronic pyelonephritis – in mother, urate nephropathy – in both brothers. In physical examination hyperemia and edema of the left first metatarsophalangeal joint, left ankle defiguration, funnel chest, gynecomastia, tophi on the ears were noted. On examination, some neurological disorders and mild cognitive impairment were found. In investigations hyperuricemia, arthritis of the first metatarsophalangeal joint, diffuse changes in the renal parenchyma with impaired renal excretory function were detected. Despite the clues in patient`s anamnesis, objective examination and additional investigation, as well as the presence of a family anamnesis suggesting the hereditary nature of hyperuricemia, the diagnosis of HGPRT deficiency was not made until the age of 16 years. Conclusion. The presence of Lesch-Nyhan syndrome can be assumed with the progression of muscle tone impairment and movement disorders in a child after the first six months of life in combination with high plasma uric acid concentration and its increased urinary excretion. Difficulties in the syndrome diagnosis are associated not only with a rare occurrence, but with a slight or moderate degree of central nervous system impairment that is often related by doctors to rickets or delivery trauma, as well as low accessibility of molecular genetic testing.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case

Ханюков

Chornyi

Yevstihnieiev

et al. 2021

The Journal of v. N. Karazin Kharkiv National University, Series "Medicine"

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“…First, it is a very rare disease. 2 Therefore, LNS is not commonly included in the differential diagnosis when a young child has delayed development.…”

Section: Lns Can Be One Of the Causes Of Delayed Development In Childmentioning

confidence: 99%

“…Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism by mutation in Xq26 with a prevalence of 1:100,000 to 1: 380,000, 1,2 and there is a defect in the activity of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). 3 It was first described at John Hopkins Hospital in 1964 by Michael Lesch and William Nyhan who encountered two brothers with unusual symptoms: severe retardation of motor development, choreoathetosis, dystonia, crystals in the urine, and self-mutilation.…”

Section: Introductionmentioning

confidence: 99%

Lesch-nyhan syndrome, a disease that could be easily missed: case series

Ko¹,

Sung²,

Lee³

et al. 2018

IPMRJ

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Purpose: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism with a defect in the activity of hypoxanthine-guanine phosphoribosyl transferase (HPRT). The aim of this study was to describe 2 cases of LNS, who were very difficult to be diagnosed. Methods: Two cases of LNS were described: 6-month-old and 13-month-old children with delayed development, increased muscle tone, and kidney problem (hydronephrosis and nephrocalcinosis respectively). Results: Diagnosis of LNS can be missed because 1) it is a very rare disease, 2) the usual laboratory serum uric acid level is based on adult men, not children, 3)some patients may only have hyperuricosuria, not hyperuricemia 4) clinical manifestations of LNS vary at different ages, 5) neuroimaging cannot help diagnose LNS, and 6) normal result of HPRT1 gene cannot rule out the diagnosis of LNS, and an analysis of HPRT activity is further needed in this case. Conclusion: Urine uric acid/creatinine ratio should be checked in children with delayed development, with consideration for the above findings.

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