BACKGROUND Paradoxical embolism due to pulmonary arteriovenous malformations is the main mechanism of brain infarction in patients with hereditary hemorrhagic telangiectasia. International Guidelines have recently been published to clarify the performance of screening tests and the effectiveness of treatment for pulmonary arteriovenous malformations. CASE PRESENTATION We present two cases of ...

Ataxia telangiectasia is a rare autosomal recessive multisystem disorder,having an incidence of 1:40,000 to 1:100,000 with an equal ratio in males and females, characterized by cerebellar ataxia, variable immunodeficiency, oculocutaneous telangiectasia, increased x ray hypersensitivity and susceptibility to malignancies. The causative gene has been localized to chromosome 11q22-23. Here a case ...

Reprint requests to: Dr. Ping-Hong Lai Department of Radiology, Kaohsiung Veterans General Hospital. No. 386, Ta Chung 1st Road, Kaohsiung 813, Taiwan, R.O.C. A 65-year-old lung cancer patient was screened for intracranial metastases. Post–gadoliniumenhanced T1-weighted imaging revealed a small enhancing pontine lesion sl ightly hypointense on T2*-weighted gradient echo, invisible on T1-/ T2-we...

Telangiectasia macularis eruptiva perstans is a rare form of cutaneous mastocytosis, characterized by the presence of erythematous or yellowish-brown macules with telangiectasias, preferably located on the trunk and upper limbs. We have described a case of telangiectasia macularis eruptiva perstans focusing on the dermoscopic characteristics of this disease.

Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30 percent of patients with hereditary h...

Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb...

Various combinations of vascular malformations of the brain in one lesion have been reported, while others seem to be very rare. In this report, the authors discuss the case of a coexistence of an capillary telangiectasia of the pons and intracerebral venous anomaly. To our knowledge, this is the first report of coexistence of a capillary telangiectasia of the pons and intracerebral venous anom...

Descreve-se urn caso de abcesso cerebral num doente corn Telangiectasia Hemorragica Hereditária. Na sua origern estaria uma fistula arteriovenosa pulmonar. Urna incidência muito elevada de abcessos cerebrais na Telangiectasia Hemorrãgica Hereditária, referida por alguns autores, parece sugerir a existên cia de outros mecanismos etiopatogénicos além dos dependentes da fistula arteriovenosa pulmo...

conclusion the involved liver with hht typically shows vascular shunting and biliary diseases. also, arteriovenous shunts may be vulnerable to biliary diseases. results (i) three types of shunting were found in the livers, including arteriovenous (hepatic artery to hepatic vein) in 6 cases, arterioportal (hepatic artery to portal vein) in 2 cases, and portal venous (portal vein to hepatic vein)...

Calcium channel blockers are widely used antihypertensive drugs, which are uncommonly associated with cutaneous reactions, such as pruritus, urticaria, or alopecia. Photosensitivity presenting with telangiectasia has rarely been described. We present here a case of photodistributed telangiectasia induced clinically by amlodipine and histologically by enlarged capillaries in the upper dermis wit...