Lesch–Nyhan syndrome in a female patient: exploring uncommon symptomatology

Lesch–Nyhan syndrome is a disorder associated with the inadequacy of the hypoxanthine phosphoribosyl-transferase 1 enzyme, which plays a significant role in the purine salvage pathway that leads to urate overproduction and its range of neurological manifestations. The disease follows an X-linked recessive inheritance pattern, affecting males more commonly than females, who are asymptomatic carriers. Here, we discuss the case of a 12-year-old female with a history of self-mutilating behavior since childhood, who presented with complaints of persistent foul-smelling ulcers on the left foot, and a history of below-the-knee right foot amputation because of recurrent ulcers. This was followed by developmental delays, a low intelligence quotient, attention-deficit hyperactivity disorder, and an irritable and aggressive temperament. The patient was managed symptomatically, and prophylactic therapy was prescribed for foot infections. This case highlights the co-occurrence of Lesch–Nyhan syndrome with attention-deficit hyperactive disorder in a female patient, emphasizing the diagnosis and management of such patients, where the availability of resources is limited.