1/9. Intraventricular hemorrhage as a false localizing sign of a thoracolumbar arteriovenous malformation: case report.BACKGROUND: Spinal arteriovenous malformation (SAVM) is a relatively rare disease characterized by a high incidence of intramedullary and subarachnoid haemorrhage. When the hemorrhage is profuse and the SAVM is in the cervical region the symptoms (disturbance of consciousness, papilledema, cranial nerve palsies, and convulsions) may be so severe and rapid in their onset that they may be mistaken for intracranial hemorrhage. We report here on a patient with a SAVM at T10-12, which bled intracranially, mainly intraventricularly, and resulted first in respiratory arrest and unconsciousness. CASE DESCRIPTION: The patient had been well until he was 28 years old when, during intercourse, he suffered a terrible headache and suddenly lost consciousness, with a transient respiratory arrest. He was also noted to have right hemiparesis. A computed tomography scan demonstrated intraventricular hemorrhage. After a 24-hour period of artificial ventilation the patient regained consciousness and the right arm paresis completely recovered, but a gradual worsening of the motor function of the left leg developed. Digital subtraction angiography did not demonstrate any intracranial source of bleeding, whereas spinal angiography revealed a SAVM located at the medullary cone, which was totally removed by surgery. CONCLUSION: The case reported here raises several important issues. First, the advisability of spinal magnetic resonance imaging in the investigation of intraventricular (and subarachnoid) hemorrhage in patients with no demonstrable intracranial source. Secondly, the benefits of early diagnosis and reestablishment of the spinal cord circulation before the onset of thrombosis and the progressive phase of myelopathy. Finally, the necessity of complete obliteration and treatment of SAVMs even in patients with fixed neurologic deficits, because rebleeding of lower thoracic or lumbar SAVMs can lead to impairment at a higher level with severe or lethal consequences.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/9. brain abscess and hereditary haemorrhagic telangiectasia: a report of three cases.Hereditary haemorrhagic telangiectasis (HHT) has long been viewed as a rare disease which is not usually associated with high morbidity and mortality. We report three patients with HHT who developed cerebral abscesses secondary to pulmonary arteriovenous malformations (PAVM).- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/9. Uterine arteriovenous malformation: ultrasonographic, magnetic resonance and radiological findings.Uterine arteriovenous malformation (AVM) is a rare disease. However, it is important to make a rapid and precise diagnosis when it does occur, because life-threatening massive genital bleeding may occasionally be a symptom of this disease. In this case report, we present a case of uterine AVM diagnosed by means of ultrasonographic, magnetic resonance imaging (MRI) and angiographic studies. A 47-year-old Japanese woman was admitted complaining of severe hypermenorrhea that had been occurring for 5 years. Her last pregnancy was an uncomplicated term delivery at 32 years of age. Transvaginal and transabdominal ultrasonography demonstrated a thickening of the anterior wall of the uterine corpus with numerous cystic lesions. color Doppler ultrasound, dynamic MRI and magnetic resonance angiography as well as pelvic angiography were useful for detecting the hypervascular lesions in this case. She was treated by a total hysterectomy and bilateral salpingo-oophorectomy under the diagnosis of uterine AVM. These noninvasive techniques should be performed initially when this rare disease is suspected.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
4/9. Spontaneous spinal epidural hematoma: an uncommon presentation of a rare disease.INTRODUCTION: Spontaneous spinal epidural hematoma is rare in children. The presenting symptoms are usually pain, either local or radicular, followed by progressive bilateral weakness, and sensory loss hours and even days later. In the absence of significant precipitating factors such as severe trauma or previously known coagulopathies the diagnosis is usually delayed, and it is not until the full picture of severe cord compression is developed, that MRI is done and the diagnosis is finally made. CASE REPORT: We describe a case of 10-year-old girl who presented with pain and pure brachial plexus radiculopathy as the only clinical manifestations of spinal epidural hematoma. CONCLUSION: A high index of suspicion can lead to the correct diagnosis even before the development of full cord compression and thus improve the overall prognosis.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |
5/9. association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis.Adams-Oliver syndrome (AOS) is a rare disease characterized by congenital scalp defects, terminal transverse limb defects and cutis marmorata telangiectatica. A significant incidence of cardiac and vascular malformations has been reported, leading to the hypothesis of a vascular defect early involved in the pathogenesis. We report two members of the same family with previously diagnosed AOS based on clinical phenotype and later recognized to have pulmonary arterio-venous malformation (PAVM). None of the subjects fulfilled current diagnostic criteria of hereditary hemorrhagic telangiectasia, which is the most common cause of PAVM. The occurrence of PAVM in AOS lends support to the hypothesis that endothelial specific abnormalities could be a patho-physiological mechanism in its development. Therefore, the role of screening for PAVM in clinical management of subjects with AOS should deserve further studies.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/9. Acute pancreatitis due to pancreatic arteriovenous malformation: 2 case reports and review of the literature.Pancreatic arteriovenous malformation (AVM) is a relatively rare disease. Based on our literature search, 51 cases of pancreatic AVM have been reported since 1968. The gastrointestinal bleeding is the most common presenting symptom (24/51 cases [47%]). There were only 6 cases of pancreatitis in these cases. We describe 2 cases of acute pancretitis with pancreatic AVM. The patients who were diagnosed with acute pancreatitis were admitted to our hospital. pancreatitis was considered to be caused by pancreatic AVM by some modalities of diagnostic imaging. The respective pancreatic AVM lesions of patients were resected to prevent the recurrence of pancreatitis. They are asymptomatic after the surgery. Pancreatic AVM is thought to be the one of the reasons for acute pancreatitis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/9. Particulate intraarterial embolization in pelvic arteriovenous malformations.Pelvic arteriovenous malformation is a rare disease with a protracted course which is a major therapeutic problem as it is usually not cured by any means. Symptoms are incapacitating and at times life-threatening. Intraarterial embolization can provide symptomatic relief but recurrence of the lesion occurs in most cases. Intraarterial embolization can be repeated several times but becomes increasingly difficult as new collaterals develop while the major feeders remain occluded. Surgical excision is contraindicated except in well localized lesions. In these cases, preoperative embolization may decrease operative morbidity and facilitate a thorough extirpation.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/9. Pancreatic arteriovenous malformation with duodenal ulcer. Demonstration by color Doppler ultrasonography.We report the color Doppler ultrasonography features of arteriovenous malformation (AVM) of the pancreas, a very rare disease. The patient was a 52-year-old man with congenital AVM of the pancreas and a duodenal ulcer that had been resistant to medication. Endoscopic color Doppler ultrasonography (color Doppler EUS) revealed many abnormal color signals showing pulsatile wave form at the portion of the duodenal wall involving the duodenal ulcer. Extracorporeal color Doppler ultrasonography revealed a mosaic-like color signal, caused by turbulent flow, in the portal trunk. Angiography demonstrated a vascular network with extensive proliferation at the pancreatic head and early portal filling. It is possible that the pancreatic AVM had caused the duodenal ulcer. color Doppler EUS can be a useful modality for detection of vessel abnormalities of the gastrointestinal tract.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/9. Diagnosis of arteriovenous malformation of the pancreas by color Doppler ultrasonography.Arteriovenous malformation (AVM) of the pancreas is a rare disease, and once this silent disease develops portal hypertension it is too difficult for the physician to successfully control the disease. AVM is usually diagnosed by invasive diagnostic modalities, and noninvasive modalities should be developed for its diagnosis. We have experienced two cases of AVM of the pancreas, which were located at the pancreatic head and diagnosed by color Doppler ultrasonography (Doppler US). The two AVM lesions were detected as a mosaic pattern, and the lesions were connected to the main portal vein on Doppler US; the pulsatile waves were also observed in the mosaic lesions by the analysis of the Doppler spectrum. We determined the two patients suffered from congenital AVM of the pancreas, since they had no abnormal findings on past and physical histories, laboratory data, and other images. One patient refused surgery, and another underwent pancreatoduodenectomy. histology of the resected specimen demonstrated the lesion was AVM of the pancreas. These cases support that the present modality is useful for the diagnosis of the pancreatic AVM as a noninvasive procedure, and we discuss the usefulness of noninvasive Doppler US which shows not only static but also hemodynamic informations.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |