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Case of the Month

  September 2014

A 36-year-old Caucasian male has suffered from recurrent epistaxis and easy bruising since childhood. At age 19 while he joined the army, he was found to have hypertension and albuminurea and progressive CKD. He started dialysis again and at the age of 27 received a second renal cadaveric transplant. He lost his first transplant due to rejection. His family history showed, his father died at age of 70 with sepsis, his blood film while he was in the hospital showed macro thrombocytopenia and leukocyte inclusion bodies.  The patient's sister has also easy bruising and had bilateral high tone sensory neural deafness.                                                                                    

Physical exam of the patient did not show any abnormality apart from obesity and surgical scars and the slit lamp examination of the eyes showed bilateral congenital cataract. Audiometric assessment showed bilateral moderate high tone sensorineural deafness. Routine blood tests were as follows: Hb 14.1 gm/dl, WBC 10.9 × 109/L with normal differential and platelet count 78× 109/L. microscopic examination of the of the peripheral blood smear had showed giant platelets and cytoplasmic inclusions in the neutrophils and eosinophils. Bleeding time, PTT, aPTT, Thrombin time, and fibrinogen level were normal. Urine analysis was normal. Creatininee clearance was 80ml/min. LFT, serum electrolytes, and serum albumin was normal.

What is the most likely diagnosis?

Read: 231 times Answered: 59 times Top score: 100%

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