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Journals / Çukurova Üniversitesi Tıp Fakültesi Dergisi / 1999 / Cilt: 24 - Sayı: 1

A case of Lesch-Nyhan syndrome with anhidrotic ectodermal dysplasia

Anhidrotik ektodermal displazi saptanan Lesch-Nyhan sendrom' lu bir olgu sunusu

A. Kübra TEMUÇİN
Nurdan EVLİYAOĞLU
Önenli Neslihan MUNGAN
Pages
21–23
Publication Date
2022-10-10
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We report a case with mental-motor and growth retardation, self-mutilation, constipation and anhidrosis, hair and teeth anomalies that are typically symptoms of anhidrotic ectodermal dysplasia that also is X-linked recessive, in addition.

📌 3 Key Takeaways

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Objective & Hypothesis:Lesch-Nyhan syndrome is an X-linked recessive syndrome which was first recognized in 1967 as a potent metabolic disorder of purine and pyrimidine system with choreoathetosis, spastisity, motor-mental retardation and self-mutilative behaviors.
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Key Findings & Data:Chromosel location of deficient enzyme hypoxanthine phosphoribosyl transferase is on xq26-q27.2.
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Conclusion & Impact:We report a case with mental-motor and growth retardation, self-mutilation, constipation and anhidrosis, hair and teeth anomalies that are typically symptoms of anhidrotic ectodermal dysplasia that also is X-linked recessive, in addition.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Lesch-Nyhan syndrome is an X-linked recessive syndrome which was first recognized in 1967 as a potent metabolic disorder of purine and pyrimidine system with choreoathetosis, spastisity, motor-mental retardation and self-mutilative behaviors. Chromosel location of deficient enzyme hypoxanthine phosphoribosyl transferase is on xq26-q27.2. We report a case with mental-motor and growth retardation, self-mutilation, constipation and anhidrosis, hair and teeth anomalies that are typically symptoms of anhidrotic ectodermal dysplasia that also is X-linked recessive, in addition.

Özet

Lesch-Nyhan sendromu; pürin-pirimidin metabolizma bozuklukları içinde 1967 yılında ilk olarak tanımlanan, hypoksantin fosforibozil transferaz enzim eksikliği sonucu ortaya çıkan, gen lokalizasyonu xq26-q27.2 olan ve koreoatetoz, spasitisite, mental-motor retardasyon ve kendine zarar verme seklinde davranış bozuklukları ile giden bir sendromdur. Olgumuzda; mental motor retardasyon, büyüme geriliği, dil ve parmaklarını ısırma ve kabızlık mevcuttu. Ayrıca X' e bağlı resesif geçiş gösteren anhidrotik ektodermal displazinin tipik bulguları olan anhidroz ile saç ve diş anomalileri vardı.

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Cite This Article

TEMUÇİN, A. K., EVLİYAOĞLU, N., MUNGAN, Ö. N. (2022). A case of Lesch-Nyhan syndrome with anhidrotic ectodermal dysplasia. Çukurova Üniversitesi Tıp Fakültesi Dergisi, Cilt: 24 - Sayı: 1, 21–23. https://ajindex.com/articles/486198

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