ICNC Abstracts, ICNC 2018

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A rare cause of developmental delay
Sakshi Batra, Aman Elwadhi, Suvasini Sharma, Bijoy Patra

Last modified: 2018-09-09

Abstract


INTRODUCTION: Purine salvage disorder is a rare X-linked disorder of purine metabolism that results from hypoxanthine guanine phosphoribosyl transferase (HPRT) deficiency. HPRT gene has been localized to the long arm of the X-chromosome (Xq26-q27).

METHODS: Clinical examination followed by investigations

CASE DESCRIPTION: A 3 year old male child was brought with complaints of delayed milestones, dystonic movements since 8 months and self mutilating behavior in form of biting of fingers of hand and biting of lips since 8 months. On examination he had brisk reflexes and dystonic movements.

RESULTS MRI brain was normal, serum uric acid was 8.5 mg/dL and urine uric acid was 128 mg/dL. Enzyme assay of patient and mutational analysis of family is awaited.

DISCUSSION: Lesch-Nyhan syndrome is rare disorder usually affecting males characterized by developmental delay, self-mutilation behavior and hyperuricemia with uricosuria. Diagnosis is usually delayed due to late appearance of self-mutilation which is pathognomic. A high index of suspicion is required to diagnose this condition.

ACKNOWLEDGEMENTS: We thank the patient and family for cooperation.

 


Keywords


developmental delay; self mutilation; hyperuricemia

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