Farber disease: a rare neurodegenerative disorder
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2009; 19 (1): 67-68
in En
| IMEMR
| ID: emr-91588
Responsible library:
EMRO
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
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Index:
IMEMR
Main subject:
Brain
/
Neurodegenerative Diseases
/
Joints
/
Mucolipidoses
Type of study:
Case_reports
Limits:
Humans
/
Male
Language:
En
Journal:
J. Coll. Physicians Surg. Pak.
Year:
2009