title: Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior.
abstract: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad,i.e.signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor symptoms along with SIB. Described here is a case of 4-year-old boy who was diagnosed with LNS. The boy displayed SIB,i.e.biting of the lips and fingers, and he had cerebral venous sinus thrombosis caused by LNS.
authors.affiliation: Pedodontics & Preventive Dentistry, Center for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Nitesh
authors.initials: N
authors.lastname: Tewari
authors.affiliation: Pedodontics & Preventive Dentistry, Center for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Vijay Prakash
authors.initials: VP
authors.lastname: Mathur
authors.affiliation: Pedodontics & Preventive Dentistry, Center for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Divesh
authors.initials: D
authors.lastname: Sardana
authors.affiliation: Pedodontics & Preventive Dentistry, Center for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Kalpana
authors.initials: K
authors.lastname: Bansal
keywords: Lesch-Nyhan disease; X-linked disorder; self-injurious behavior