Year: 2023
Type: article
Study design: Case Report
Abstract: Hurler syndrome is a rare autosomal recessive disorder of deficiency in the metabolism of glycosaminoglycans (GAGs), including heparan sulfate and dermatan sulfate, which consequently accumulate in the different organs of the body, resulting from deficiency of an enzyme named Alpha-L-iduronidase. Here, we present an interesting case of a young female patient who presented with a combination of skeletal, oro-facial, ophthalmologic, neurological, and radiological findings of this disease. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made late in the disease due to lack of facilities, and the patient was ultimately managed supportively.
Source: Cureus
DOI: 10.7759/cureus.37785
Authors: Noman Khalid, Muhammad Abdullah, Abeer bin Awais, Muhammad Hassan, Ameer Muhammad
Institution: Shaikh Zayed Hospital
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4366333090