Farber disease: a rare neurodegenerative disorder
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2009; 19 (1): 67-68
em Inglês
| IMEMR
| ID: emr-91588
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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Encéfalo
/
Doenças Neurodegenerativas
/
Articulações
/
Mucolipidoses
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2009
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