Late diagnosis of Lesch-Nyhan disease variant

Doucet, B.; Jegatheesan, Dev; Burke, John R.

doi:10.1136/bcr-2013-201997

Cited by 7 publications

(7 citation statements)

References 11 publications

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“…As a result, uric acid in the blood was then accumulated in the tissue and manifested as tophaceous gout [8,13]. Similar to this case, a case of delayed diagnosis of LND was reported; upon which gouty tophus had been exhibited before the final diagnosis was made [14]. Repetitive trauma from the habit of hand biting and improper exercise during physiotherapy may exacerbate gout attacks.…”

Section: Discussionsupporting

confidence: 57%

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Ambarsari

Cahyadi²,

Sari³

et al. 2020

Renal Failure

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Section: Discussionsupporting

confidence: 57%

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Ambarsari

Cahyadi²,

Sari³

et al. 2020

Renal Failure

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“…It is important for a pediatric neurologist to know that Lesch-Nyhan syndrome is often hidden under the guise of cerebral palsy clinical manifestations [3,5,8]. However, unexplained persistent hyperuricemia and progressive urate nephropathy require explanation, and could help in early diagnosis of the syndrome [11]. Uric acid crystals were primary found in our patient`s urine at 6-month-old.…”

Section: Discussionmentioning

confidence: 73%

“…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]. Neurological symptoms can manifest by varying degree of severity of extrapyramidal and pyramidal motor dysfunction [5,10].…”

Section: Discussionmentioning

confidence: 99%

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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“…Renal disease results from intratubular uric acid deposits and interstitial deposits of urate crystals. 24 Although this case have not had nephrolithiasis but she was having dribbling of urine since birth and in our hospitalshe was diagnosed as UTI and treated with IV antibiotics. But after evaluation, MCU report showed grade 2 VUR which is very unlikely in LNS and there is no single case has reported till date so far.…”

Section: Discussionmentioning

confidence: 80%