Bleeding tendency infant
Name : yassin ayman
Age: 1,5 year
Complain : bleeding per nose , vomiting of blood , bleeding per-rectum , bleeding with micturation.
History : the condition started at 9/2009 by diarrhea more than 13 motions daily associated with vomiting and fever , sought for medical advice diagnosed as gastroenteritis treated with ORS and anti-biotic without response , admitted at tanta hospital with dehydrations and treated with IV Fluids .
Later on and within 2 days he developed bleeding per-rectum , epistaxsis , associated with high grade fever ,CBC show normocytic normochromic anemia without thrombocytopenia , stool culture done and he was given Anti-biotic according to the result but without good response , 1 day later the general condition deteriorate , In the form of febrile convulsions and DCL.
The infant referred to the ICU and diagnosed as DIC, as he was presented with bad general condition ,fever, epistaxsis hematemsis hematuria bleeding per-rectum and FDS > 20, D-dimer +ve
But without thrombocytopenia and normal coagulation profile PT,PTT, PC,INR ,APTT,BT . Treated with IVIG for 2 days without response so referred to CAIRO UNIVERSETY pediatric hospital.
At hematology department the infant was presented with the following :
Frank hematuria , bleeding per-rectum ,epistaxsis and bleeding from ears with average general condition and well performance status ?!!!
We start to give him plasma daily for 2 weeks so all bleeding from all orifices stopped except hematuria persist even on regular daily plasma transfusion .
Nephrology consultation and pelvi-abdominal ultra-sound revealed nothing abnormal within the urinary system.
We stop plasma for 2 days in order to reevaluate the coagulation profile and it was normal but the infant start hematemsis ,bleeding per-rectum , epistaxsis and deterioration in the general condition , so we gave him plasma again daily and the same occur all bleeding from all orifices stopped except hematuria .
We gave him cryo for 3 days but bleeding persist per rectum ,nose and hematemsis
Again on plasma all bleeding stopped from all orifices except hematuria ,
The same occur with platelet transfusion.
CBC revelaed normocytic normochromic anemia only and normal coagulation profile but platelet function test revealed defect in platlet agreggations with adrenaline and ADP but normal with ristocetin.
During all this time blood was given twice only when we stop plasma for 2 days.
Till today the infant presenting with frank hematuria not responding to plasma cryo or platelet.!!!!!
Our hematology staff suspect auto-immune pathology or vasculitis that is why they asked for ANCA , Anti cardiolipin IgM and IgG which give the following results +ve Anti-cardiolipin IgM and +ve Cytoplasmic ANCA , so and after consultation of DR/Amal el-beshlawy and DR/Samia salah they decide to start methy-prednisolone at low dose 5 mg/kg/day with gradual tapering but without response also…hematuria persist.
After consultation of some bleeding tendency centers outside Egypt they advise for Minirin trial or novo-seven , we tried minirin but without respons.
Nephrology staff ask for renal biopsy ..so we gave him novo-seven (factor 7 peparation) as pre-operative preparation for renal biopsy , bleeding regressed and biopsy done by light microscopy and show evidence of vasculitis or IgA nephropathy , so the nephrology and collagen vascular staff diagnose him as wegner granulomatosis though CT over sinuses and chest show no granulomas.
Professor dr/amal el-beshlawy (hematology staff) and dr/fatina fadel (nephrology staff) ask for indoxane course with low dose steroids.
Clinically the child bleeding improved and stopped for the first time.
But relapse occur again at 1/8/2010 after we reach with steroids to 7 mg/day orally.
Collagen vascular consultation again they ask for FMF gene and it was heterozygous , we start colchicine but without response heamturia the same even associated with blood clots , then we start cellcept but without response also .
Till today the child is still admitted at the ward with hematuria and bleeding per-rectum
CBC --- normocytic normochromic sometimes microcytic hypochromics with normal platelet count
Coagulation profile ---all over normal even after we stop plasma trans.
Urine analysis --------albumin ++ , with RBCs more than 100
Platelet function------ no defect.
Pelvi-abdominal US show blood clots at urinary bladder
Renal biopsy.mesangial proliferation