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Lesch-Nyhan sendromu (juvenil gut)

Kalıtsal - XLR

Enzim defekti

İlk bulgular 1 yaşından sonra belİrir

Erkek çocuklarda daha sık

İlk bulgular nörolojik (distoni, koreoatetoz, opistotonos)

Spastik serebral paralizi

Hiperürisemi ve gut artriti

Beyinde ürik asid kristalleri ve erimeler

Böbreklerde ürik asid nefropatisi

Üriner taşlar ve hematüri

Testis atrofisi

Beyaz maddede demyelinizasyon

Psikomotor gerilik

Hipotoni (çoğu yürüyemez)

Konuşmada gecikme/zorlanma

Koreoatetoz

Beslenme bozukluğu

Gelişme geriliği

Megaloblastik anemi

Düzensiz ateş

Self-destrüksiyon (dudaklar, yanaklar, parmaklar)

Süt dişlerinde mine hipoplazisi

 

  • Lee JH, Berkowitz RJ, Choi B. Oral self-mutilation in the Lesch-Nyhan syndrome. ASDC Journal of Dentistry for Children, 69:66–69, 2002

  • Robey KL, Reck JF, Giacomini KD, Barabas G, Eddey GE. Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease. Developmental Medicine & Child Neurology, 45:167–171, 2003

  • Bertelli M, Randi D, Micheli V, et al. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. The Journal of Inherited Metabolic Disease, 27:767–773, 2004

  • Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain, 129:1201–1217, 2006

  • Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Archives of Neurology, 65:1240-1243, 2008

  • Sarafoglou K, Grosse-Redlinger K, Boys CJ, et al. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Archives of Neurology, 67:761-764, 2010

  • Fu R, Sutcliffe D, Zhao H, et al. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. Molecular Genetics and Metabolism, 114: 55-61, 2015