Article

A rare presentation of Hurler syndrome in adulthood with hyperprolactinemia and Pituitary hyperplasia: A Case report

2026-07-21

Abstract excerpt

<title>Abstract</title> <p> <bold>Introduction:</bold> Hurler syndrome, or mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-L-iduronidase (IDUA). Hurler syndrome presents in infancy as rapidly progressive, multisystemic disease with severe disease. Although extremely rare, adult-onset Hurler syndrome is not frequently mistaken, particularly in geo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 689443b0-3399-59c1-850a-bde6dade1b65
DOI: 10.21203/rs.3.rs-10157652/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A rare presentation of Hurler syndrome in adulthood with hyperprolactinemia and Pituitary hyperplasia: A Case reportDOI 10.21203/rs.3.rs-10157652/v1Read

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseSemantic proximity Read

Mucopolysaccharidosis VII in Brazil: Natural History and Clinical FindingsSemantic proximity Read

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.Semantic proximity Read

Diagnostic approach in adult-onset neurometabolic diseases.Semantic proximity Read

Acute Airway Crisis in Mucopolysaccharidosis VI: Management ChallengesSemantic proximity Read

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.Semantic proximity Read

Adult presentation of histiocytosis-lymphadenopathy plus syndrome associated with hypogammaglobulinemia due to a recurrent homozygous pathogenic variant in SLC29A3: a case reportSemantic proximity Read

Why it is difficult to distinguish the Silver-Russell syndrome (SRS) and 3M syndrome in clinical practiceSemantic proximity Read

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.Semantic proximity Read

Recent advances in managing and understanding Klinefelter syndromeSemantic proximity Read

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.Semantic proximity Read

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.Semantic proximity Read