Hereditary haemorrhagic telangiectasia (OslerWeber-Rendu disease) is an uncommon disease and, in over 98% of cases, the patients present with recurrent episodes of epistaxis (Harrison, 1964). It has been estimated that 15% of patients develop a pulmonary arterio-venous fistula during their lives (Hodgson et al., 1959). The patient with a pulmonary arterio-venous fistula may suffer from various ...

The revised model of coagulation has implications for therapy of both hemorrhagic and thrombotic disorders. Of particular interest to anesthesiologists is the management of clotting abnormalities before, during, and after surgery. Most hereditary and acquired coagulation factor deficiencies can be managed by specific replacement therapy using clotting factor concentrates. Specific guidelines ha...

A hemophilic pseudotumor is one of the rarer complications of hemophilia that results from repetitive bleeding resulting in an encapsulated mass of clotted blood and necrosed tissue. These have become rarer over the years with better treatment modalities for bleeding disorders like factor replacement. In this case report, we describe the natural history and clinical course of a patient with hem...

gastrointestinal (gi) bleeding in pediatric patients has several causes. vascular malformation of the small bowel is a rare disease leading to pediatric gi bleeding. to our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. we present a case of long-segmental and circumferential vascular malformation that led to gi blee...

Cystic fibrosis (CF) is a hereditary disease of mucous and sweat glands, which affects the respiratory and gastrointestinal systems. Herein, we describe a 3-month-old girl with a history of recurrent episodes of urinary tract infections that required hospitalization. She was referred to our center at the age of three months, with massive gastroesophageal variceal bleeding. In physical examinati...

Congenital hepatoportal arteriovenous fistulas are a rare cause of segmental portal hypertension and splenic vein thrombosis (1–4). These may be intrahepatic or extrahepatic in location and present during infancy or early childhood with portal hypertension and gastrointestinal bleeding secondary to varices, ascites, malabsorption, anemia, and congestion of the bowel (5). In childhood, arteriopo...

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large an...

Нарушения митохондриального бета-окисления жирных кислот - группа редких наследственных нарушений обмена веществ. Недостаточность длинноцепочечной 3-гидроксиацил КоА дегидрогеназы (LCHADD) одно из наиболее частых в странах Европы веществ группы дефектов кислот. Это заболевание характеризуется поражением печени, сердечной и скелетной мышц, частыми метаболическими кризами высокой смертностью детс...

BACKGROUND Cavernomas of the brain are congenital lesions clinically divided into hereditary and a sporadic forms. Multiple lesions are usually observed in the familial form, whereas the sporadic variant generally shows a single cavernoma. In this case we describe the simultaneous bleeding of two lesions in a patient with a non-familial cavernomatosis. CASE DESCRIPTION A 46-ye...