title: Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.
abstract: Krabbe disease is a rare autosomal recessive leucodystrophy, with <5% of the cases having an adolescent-onset form. A 30-year-old woman with a history of a subacute episode of gait impairment at 14 years of age, and mild spastic paraparesis since then, was followed with an initial diagnosis of multiple sclerosis. After 10 years of slow disease progression without response to treatment, the initial diagnosis was reviewed, and an extensive metabolic work up revealed decreased activity of galactocerebrosidase. Genetic testing of the GALC gene proved the diagnosis of Krabbe disease and found a novel mutation. This case highlights the value of a critical eye in the initial differential diagnosis, mainly in the presence of atypical findings.
authors.affiliation: Neurology Department, Coimbra Hospital and University Centre, Coimbra, Portugal.
authors.forename: José
authors.identifier: http://orcid.org/0000-0002-5667-2055
authors.initials: J
authors.lastname: Tomás
authors.affiliation: Neurology Department, Coimbra Hospital and University Centre, Coimbra, Portugal.
authors.forename: João
authors.initials: J
authors.lastname: Durães
authors.affiliation: Institute of Medical Genetics Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal.
authors.forename: Lúcia
authors.initials: L
authors.lastname: Lacerda
authors.affiliation: Neurology Department, Coimbra Hospital and University Centre, Coimbra, Portugal.
authors.forename: Maria Carmo
authors.initials: MC
authors.lastname: Macário
mesh_terms: D000293:Adolescent; D000328:Adult; D003711:Demyelinating Diseases / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000134:cerebrospinal fluid; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D011174:Portugal
chemical_list: D007074:Immunoglobulin G