Challenges in Diagnosing and Managing Hurler Syndrome: A Case Report

TL;DR

A 12-year-old boy with Hurler syndrome faced diagnostic and treatment challenges due to limited resources, highlighting the need for better access to care for rare genetic disorders.

Contribution

The case emphasizes the importance of accessible diagnostics and ethical decision-making for managing rare diseases in resource-limited areas.

Findings

The patient showed typical symptoms and biochemical markers of Hurler syndrome.

Limited access to enzyme replacement therapy and diagnostic facilities hindered effective management.

A multidisciplinary approach is advocated to improve outcomes for patients with Hurler syndrome.

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.

Figures