Ameer Ahmad, Atta Ullah Mazhar, Muhammad Anwar.
Farber disease: a rare neurodegenerative disorder.
J Coll Physicians Surg Pak Jan ;19(1):67-8.

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.

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