Bleeding symptoms are common in healthy children but occasionally may indicate an underlying congenital or acquired bleeding diathesis. The rare bleeding disorders (RBDs) comprise inherited deficiencies of coagulation factors I (congenital fibrinogen deficiencies), II, V, VII, X, XI, and XIII and combined factor deficiencies, most notably of factors V and VIII and of vitamin K-dependent factors...

Rapidly progressive dementias are a rare group of cognitive disorders that primarily require the exclusion large number potentially reversible causes. Prion diseases frequent in this disorders. Some hereditary forms Alzheimer's disease can also be aggressive, with onset at young age and autosomal dominant inheritance family. The article presents first case report patient verified Ile143Thr muta...

menorrhagia is the most common symptom that is experienced by women with bleeding disorders. von willebrand disease (vwd) is the most common congenital human bleeding disorder that is manifested as a quantitative deficiency in von willebrand factor (vwf) or dysfunction of this factor. the frequency of vwd is similar in both men and women. however, vwd is more readily detected in women due to th...

A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understandin...

OBJECTIVE Upper gastrointestinal (UGI) bleeding is one of the most life-threatening complications, in up to 25% of persons with hemophilia (PWH). Recurrent bleeding is common and can be caused by the Helicobacter pylori infection. Our aim was to evaluate the role of H. pylori infection in UGI bleeding in PWH. MATERIAL AND METHODS Ninety patients with hereditary bleeding disorders, 30 patients...

Scurvy is a condition due to chronic ascorbic acid deficiency responsible for vascular fragility and impaired bone formation. The result gingival bleeding, petechial lesions articular pain or limb swelling. Children may also present with irritability, limping refusal walk. Because of these symptoms it can be misdiagnosed osteomyelitis, septic arthritis, soft tissue tumour, leukaemia, bleeding d...

In summary, the causes of GI bleeding in infancy and childhood are varied, ranging from congenital and hereditary disorders to those more commonly seen in the adult population. Many causes of GI bleeding in the pediatric population are restricted to a narrow range regarding age of onset, frequently enabling the physician to narrow the differential diagnosis before proceeding with invasive inves...

Abstract Background: Hereditary red cell enzyme disorders are a group of Non-immune/Spherocytic Hemolytic Anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. This study evaluated 5 enzymopathies in patients with Hereditary Non –immune/Spherocytic Hemolyti...