Sialidosis is a rare, autosomal recessive inherited disorder caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. An association exists between the impact of the individual mutations and the severity of the clinical presentation of sialidosis. Despite being uncommon, sialidosis has enormous clinical relevance due to its debilitating character. A complete understanding of the underlying pathology remains a challenge, which in turn limits the development of effective therapeutic strategies. We present a case of diagnosed congenital sialidosis type II.
A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene