SUN-462 Lesch-Nyhan syndrome: A Case Report

Abstract

Lesch-Nyhan syndrome, a rare inborn error of metabolism, characterized by Hyperuricemia, Spectrum of neurological dysfunctions, and Cognitive and behavioral disturbances, is a rare anomaly caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1 (HGPRT-1), produced by mutations in the HPRT gene located on the X-chromosom leading to the overproduction of purine and accumulation of uric acid. There is no medical treatment to alleviate the symptoms of self-mutilation except dental intervention. The disease affects mainly male child, and females are asymptomatic carriers. We report a case of a 13 year old male child from Ethiopia, Who presented with Worsening of self-injurious behavior and failure to pass urine of 03 days duration. Initially presented with rigidity of the extremities at the age of 4 months and later neck rigidity with intermittent arching of the back. Family noticed passage of whitish grit like material in urine. He had poor appetite, irritability and poor weight gain. For the above complains he was diagnosed to have CP and advised to have physiotherapy. For lack of improvement, family discontinued follow-up. At the age of 3 years, he started to experience a self-injurious behavior by biting initially his lips and subsequently his hands and upper arms with ulceration of the lips and loss of finger nails and later developed head banging and rubbing of the extremities against the floor and nearby object. He developed aggression to his family with biting and pinching. Subsequently started on Clonazepam and Trihexyphenidyl with the diagnosis of dystonic CP, which showed slight improvement. Resperidone was started for the self-injurious behavior, On current presentation, he had poor feeding, low grade intermittent fever, worsening of passage of whitish stone via urine and worsening of self-injurious behavior. He has had recurrent chest and urinary tract infections. His mom and uncle have knee pain and she is taking Allopurinol. There is no history consanguinity in the family. The delivery was in hospital at term, and had uneventful perinatal history. He is the 2nd child to the family, fully vaccinated with adequate nutritional history. Brothers are 17 and 7 years old, grade 10 and 3 students, both apparently healthy. On examination, he is chronically sick looking, irritable. He is severely wasted, stunted and BMI was 17.1. He has ulcerated lips with tissue loss, ulcerated tongue (anterior 2/3 tongue and ulcerated and sloughed nail beds. On CNS he is conscious with intact Cranial nerves; Motor shows wasted muscle bulk but comparable on both sides. Power was 3/5 and had increased tone in all extremities. The DTR was 2/4 in ankle and knee. Plantar reflex was equivocal and there was no clonus or meningeal signs. Sensation to pain and touch was intact. He was admitted and bilateral percutaneous nephrostomy was inserted to relieve ureteric obstruction and medically managed for UTI, multiple electrolyte abnormality due to GI and urinary loss. The AKI resolved with standing ESKD due to obstructive uropathy following nephrolithiasis. In pediatric patients, self-mutilation is seen in genetic syndromes like LNS, Cornelia de Lange, Gilles de la Tourette syndrome, mental retardation, encephalitis, congenital malformation. A careful evaluation is, essential toward making the appropriate diagnosis of LNS.