Farber disease: a rare neurodegenerative disorder.
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.
Ahmad
Ameer
A
Department of Paediatrics, Quaid-e-Azam Medical College, Bahawalpur. ameermlk@yahoo.com
Mazhar
Atta Ullah
AU
Anwar
Muhammad
M
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