Clinical Diagnosis of Farber's Disease- A Rare Case Report
Journal Title: International Journal of Health Sciences and Research - Year 2017, Vol 7, Issue 7
Abstract
Farber`s disease is an extremely rare autosomal recessive (AR) condition in which there is deficiency of enzyme ceramidase, this causes accumulation of fatty material in joints, liver, throat and CNS. Only 80 cases are reported worldwide till date. Here we report a case of 3 months old male baby admitted to paediatric casualty of MKCG medical college with complains of abnormal cry, swelling of multiple joints with pain during movement of limbs since birth. On examination there was hepatomegaly of 3 cm. Hence a provisional diagnosis of some storage disorder was made. Later because of the presence of triad of hoarse cry, subcutaneous nodules and joint contracture, a clinical diagnosis of Farber`s disease was made.
Authors and Affiliations
Ali Nasreen
Keywords
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