Challenges in Diagnosing and Managing Hurler Syndrome: A Case Report.

ABSTRACT

This case report details a 12-year-old male diagnosed with Hurler syndrome, a rare autosomal recessive disorder caused by a deficiency in the enzyme alpha-L-iduronidase. The patient exhibited typical symptoms, including developmental delays, ocular clouding, and distinctive skeletal deformities, along with mild cognitive abnormalities. Despite the presence of traditional clinical signs and elevated urine heparin and dermatan sulfate levels confirming the diagnosis, access to advanced treatments such as enzyme replacement therapy was severely limited due to socioeconomic constraints and a lack of diagnostic facilities in the region. This case highlights the critical need for accessible diagnostic and treatment options in resource-limited settings and underscores the importance of ethical decision-making in managing rare genetic disorders. The report advocates for a multidisciplinary approach to enhance outcomes for patients with Hurler syndrome.