Background: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time. Methods: Between 2006 and 2016, data of seven BSS patients who have long been diagnosed and treated as ITP were collected ...

Splenic arteriovenous fistula is a rare but curable cause of portal hypertension. This report describes a patient with such a disorder, presenting with bleeding esophageal varices and ascites. It emphasises the importance of performing selective catheterization of the celiac and superior mesenteric artery in all patients with signs of portal hypertension without evidence of chronic liver diseas...

Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder (MPD) of early childhood [1]. The median age at diagnosis is 2 years [1]. There is a male predominance with a male:female ratio of 2:1. Pallor, fever, infection, skin bleeding and cough are the most common presenting symptoms. Typically, there is marked hepatosplenomegaly. JMML rarely involves the central nervo...

Acquired hemophilia A (AHA) is a rare bleeding disorder, caused by the development of autoantibodies (inhibitor) against endogenous clotting factor VIII (FVIII). common clinical manifestation subcutaneous bleeding, but soft tissue hematomas and excessive post-operative hemorrhages may also occur. diagnosis AHA made in patients presenting with an isolated prolonged activated partial thromboplast...

In the last trimester of an uncomplicated pregnancy a woman developed a spontaneous vitreous haemorrhage. She was later diagnosed as having HELLP syndrome, a recently described disorder comprising haemolytic anaemia, elevated liver enzymes, and a low platelet count in women with severe pre-eclampsia or eclampsia. We believe this rare complication of pregnancy to be the cause of the intraocular ...

Severe gastrointestinal bleeding (GIB) secondary to jejunal diverticulosis (JD) is very rare. Delay in establishing a diagnosis is common and GIB from JD is associated with significant morbidity and mortality. We report an illustrative case diagnosed by push enteroscopy and managed with surgery.

Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that combines the use of endoscopy and fluoroscopy to diagnose and treat pancreaticobiliary disorders. The risks of ERCP include pancreatitis, infection, bleeding and perforation. Bleeding during ERCP typically develops after sphincterotomy, hence patients should be screened and tested for coagulopathy before undergoing ERCP. ...

Primary mucosal melanoma occurs in under 2% of melanomas. Anorectal melanoma is a rare disorder, approximately accounting for 1% of all anorectal carcinomas. Primary anorectal melanoma presents predominantly in women, in the 4th-6th decade of life. Typical clinical manifestations include rectal bleeding and tenesmus. The prognosis remains poor.

The problem of impaired hemostasis remains relevant even today. Rare bleeding disorders that cause life-threatening in patient are often overlooked by clinicians. blood coagulation a genetically determined group coagulopathies caused deficiency plasma proteins involved hemostasis, as well fibrinogen, prothrombin, factor V (FV), factors and VIII (FV+FVIII), VII (FVII), X (FX), XI (FXI), XII (FXI...