Nisar Ahmed, Saima Farhan, Khalid Mahmood.
Bernard - Soulier Syndrome.
Pak Paed J Jan ;27(3):142-3.

An 11 years old girl weighting 65 kg presented with menorrhagia for the last 8 months (since menarche) at Haematology outpatient department of the Children`s Hospital, and Institute of Child Health Lahore. Past history revealed episodic bleeding from nose and gastrointestinal tract. No family members were suffering from bleeding disorder. On examination she was afebrile, pale, there was no organomegaly, no evidence of skin and mucosal bleeding, no evidence of haematoma or haemarthrosis and normal fundi. Lab investigation showed Hb 9.6 g/dl, RBC 4.5 x10e2/1, WBC 12.92 x 109/1 with P 78%, L 20%, M 0.2%, PLT count 95 x 109/1, HCT 30%, MCV 95 fl, MCH 29 Pgm. MCHC 31.1, ESR 44 mm/hr. Peripheral smear showed thrombocytopenia with giant platelets. Bleeding time more than 15 minutes, prothrombin time 12 seconds, APTT 29 seconds, and platelets aggregation showed normal aggregation with ADP, epinephrine, collagen, thrombin, no aggregation with ristocetin. Liver function tests & renal function tests were normal. Abdomino pelvic ultrasound revealed no abnormality. She was treated with oral contraceptives (OCP), folic acid, analgesic and anxiolytic drugs, resulting in improvement and smooth recovery on follow up. She was given combination of estrogen and progestrone (OCP) for 6 cycles (6 months), folic acid (5 mg) daily for two months and anxiolytics for 15 days to relieve her anxiety. She was followed for two years with improvement of symptoms & without bleeding episode.

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