title: Farber disease: a rare neurodegenerative disorder.
abstract: This is the case report of a two-and-a-half-year old male infant with Farber disease, which is a rare neurodegenerative mucolipidosis. The child presented with regression of milestones, laryngeal involvement and painful joints with swellings around the joints. Neuroimaging findings and the biopsy of the soft tissue swellings helped to reach the diagnosis.
authors.affiliation: Department of Paediatrics, Quaid-e-Azam Medical College, Bahawalpur. ameermlk@yahoo.com
authors.forename: Ameer
authors.initials: A
authors.lastname: Ahmad
authors.forename: Atta Ullah
authors.initials: AU
authors.lastname: Mazhar
authors.forename: Muhammad
authors.initials: M
authors.lastname: Anwar
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D055577:Farber Lipogranulomatosis / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009081:Mucolipidoses / Q000473:pathology*; D019636:Neurodegenerative Diseases / Q000473:pathology*; D014057:Tomography, X-Ray Computed