AI Article Synopsis

  • * Gordon Holmes syndrome, first described in 1908, is characterized by ataxia combined with hypogonadism and is linked to mutations in genes responsible for the ubiquitin-proteasome system.
  • * The case report focuses on a 30-year-old male who exhibits symptoms like progressive ataxia, hypogonadotropic hypogonadism, cataracts, and brain abnormalities, ultimately revealing a mutation that confirms the diagnosis of Gordon Holmes syndrome.

Article Abstract

Early-onset cerebellar ataxia has a broad range of challenging differential diagnoses. Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. It is due to mutation in and genes which encode for enzymes in the ubiquitin-proteasome system. In this case report, we describe a 30-year-old male presenting with insidious-onset progressive ataxia with hypogonadotropic hypogonadism, cataract, pan-cerebellar atrophy with bilateral cerebral white matter hyperintensities and a positive homozygous mutation for making the diagnosis of Gordon Holmes syndrome. The presence of hypogonadism in a patient with ataxia should alert the clinician to look for such a diagnosis.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660149PMC
http://dx.doi.org/10.1136/bcr-2023-256994DOI Listing

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