Resident St.Johns Medical College Hospital, Bangalore bangalore, Karnataka, India
Case Diagnosis: On examination she was found to have tachycardia, bilateral pitting thigh edema, ascites and a stage 3 ulcer on the tibial end of the left residual limb.Lab parameters revealed elevated Serum Creatinine and hyperkalemia. Urine microscopy revealed nephrotic range proteinuria and USG abdomen was suggestive of probable chronic cystitis. She was then shifted under Department of Medicine, where she underwent renal biopsy and blood workup for amyloidosis was sent. She underwent multiple cycles of haemodialysis.Renal biopsy report was suggestive of amyloidosis. She was continued on parenteral antibiotics and reno-protective medicines
Case Description: : A young girl of 17 years, diagnosed with Charcot marie tooth disease also known as Hereditary motor sensory neuropathy (HMSN – Type 2) with bilateral trans-tibial amputation and multiple finger amputation was under regular follow up with the Dept of PM&R,SJMCH. She presented to the OPD with complaints of intermittent fever, swelling of the abdomen and bilateral lower residual limbs and a worsening wound on the distal end of the left residual limb, frothy urine and difficulty in breathing since 5 days
Discussions: Amyloidosis is a group of disorders in which soluble proteins aggregate and deposit extracellularly in tissues causing organ dysfunction.The risk factors for amyloidosis are age related, familial, and chronic infection/ inflammation. Renal Amyloidosis if left untreated can lead to end stage renal disease (ESRD).Yoshitaka Kikukawa et al reported a similar case in an elderly lady with CMTD who responded to treatment with chemotherapeutic agents. In our case,chronicity of ulcer and cystitis are the probable risk factors leading to Amyloidosis and associated clinical features.
Conclusions: This rare case highlights the presence of Amyloidosis in a patient with CMDT due to chronic infection/inflammation.CMDT patients with chronic wounds and repeated infections should be educated regarding the possibility of developing amyloidosis.