Alpha-mannosidosis from the perspective of pediatric genetics: An ultra-rare case

Alpha-mannosidosis is an extremely rare autosomal recessive genetic condition that affects approximately 1 in 500,000 to 1 in 1,000,000 live births worldwide, and is caused by a mutation in the MAN2B1 gene, which encodes the lysosomal enzyme alpha-mannosidase. It may be suspected in patients under ten years of age who present with speech delay, hearing loss, and skeletal alterations. In patients over ten years of age, motor impairment and psychological manifestations are observed. This report describes an ultra-rare case of a young patient diagnosed with alpha-mannosidosis, as well as the challenges of diagnosis and treatment in a developing country.