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1/72. PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review.

    OBJECTIVES: To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and eye abnormalities) to the ophthalmologic literature; to report the first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity. DESIGN: Case report and literature review. methods: The authors report a child with PHACE syndrome and congenital glaucoma and review the ophthalmologic and systemic manifestations of this syndrome. RESULTS: A 9-month-old girl with PHACE syndrome was treated. She had a large right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment. CONCLUSIONS: Ophthalmologists who examine children with large facial hemangiomas should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital glaucoma should be added to the list of PHACE-associated ocular anomalies. ( info)

2/72. Aneurysmal portosystemic venous shunt: a case report.

    A case of an aneurysmal portosystemic venous shunt detected by colour Doppler ultrasound (CDUS) is presented. A young female patient complained of postprandial fatigue and had paroxysmal tachycardia. A direct vascular communication between right portal vein and right hepatic vein was found at CDUS and confirmed by direct portal angiogram. Using detachable coils a complete occlusion of the intrahepatic shunt was obtained. Reports from the literature regarding portovenous aneurysms are reviewed. ( info)

3/72. incontinentia pigmenti: a case associated with cardiovascular anomalies.

    Various cutaneous and developmental defects of the eyes, teeth, skeleton, and central nervous system have been detected in infants with incontinentia pigmenti. We report an isolated case of incontinentia pigmenti in a 6-month-old girl in association with tricuspid insufficiency, an abnormal shunt of the right pulmonary vein into the superior vena cava, and pulmonary hypertension. We believe that our findings will help to confirm the association of cardiovascular anomalies in IP. ( info)

4/72. Dieulafoy lesions: a review of 6 years of experience at a tertiary referral center.

    Dieulafoy lesions are uncommon sources of GI hemorrhage and predominantly occur in the proximal stomach. At one time a pathological diagnosis made postoperatively, Dieulafoy lesions are now routinely diagnosed and treated endoscopically. Their true incidence is unclear as quiescent Dieulafoy lesions are easily overlooked on endoscopy and bleeding lesions are occasionally misidentified. Over 6 yr (June 1993-November 1999), 40 Dieulafoy lesions were identified on upper endoscopy at our institution, of which seven were located in the duodenum and one in the right colon. Forty-seven percent of patients were hospitalized for other causes before onset of bleeding, and 17 of 40 were found to have other abnormal findings at endoscopy. In 90% of the cases, endoscopic treatment was successful. Seven patients died, but none as a result of hemorrhage. In 24 endoscopically-treated patients in whom follow-up data are available, Dieulafoy bleeding recurred in one patient. Dieulafoy lesions are rare and often difficult to diagnose, but must be considered in the evaluation of upper and lower GI tract hemorrhage, as they can usually be managed endoscopically. ( info)

5/72. Metastatic thyroid cancer manifesting as a mediastinal mass in a man with an aberrant right subclavian artery.

    We treated a case of thyroid cancer manifesting as a mediastinal mass, completely resecting it without difficulty despite a vascular anomaly. An asymptomatic 42-year-old woman was admitted with a mediastinal mass. Ten years earlier, she had undergone surgery for a thyroid tumor diagnosed as follicular adenoma. She also had an aberrent subclavian artery anomaly with a non-recurrent laryngeal nerve, radiographically recognized preoperatively. The mediastinal mass was completely resected through median sternotomy. Pathological examination showed the previous thyroid tumor had been follicular carcinoma, and that the mass was a mediastinal-node metastasis from the thyroid cancer. Preoperative recognition of the vascular anomaly was helpful in completing resection, in addition to safe, quick surgical procedures. ( info)

6/72. Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome.

    A possible new multiple vascular disruption symdrome is described. The male patient had microcephaly with cortical migration defects, Peters anomaly and multiple inestinal atresias. ( info)

7/72. streptococcus bovis meningitis in a neonate with Ivemark syndrome.

    Although streptococcus bovis infections in adults are associated with endocarditis and bowel neoplasms, S. bovis-associated meningitis is rare in neonates. We describe the case of a neonate with Ivemark syndrome, which possibly predisposed her to infection with this bacterium. ( info)

8/72. Radiofrequency catheter ablation of a left lateral accessory pathway in a patient with persistent left superior vena cava.

    Persistent left superior vena cava is an unusual congenital anomaly that can coexist with accessory atrioventricular pathways. This anomaly can cause difficulty in mapping because of the dilated coronary sinus. This study describes a successful catheter ablation in a young male with persistent left superior vena cava and wolff-parkinson-white syndrome as a result of a left lateral accessory pathway. ( info)

9/72. Arterial compression of the right common iliac vein; an unusual anatomical variant.

    Compression of the left common iliac vein by the right common iliac artery has been well described (Cockett's syndrome).The authors describe a case report of compression of the right common iliac vein by the right internal iliac artery. The patient presented with ipsilateral lower limb oedema. Venography showed smooth extrinsic compression of the right common iliac vein. The CT scan was initially interpreted as showing no extrinsic mass or obvious compressing lesion and lymphography was normal. It was the duplex scan which showed the bifurcation of the right common iliac artery crossing the right common iliac vein and causing significant extrinsic compression. ( info)

10/72. Complete vascular ring detected by barium esophagography.

    The diagnosis of a vascular ring can be made on the basis of characteristic findings on barium esophagography. We report a case of a double aortic arch in a 9-month-old girl that was diagnosed in this manner, and we briefly review the anatomic characteristics of vascular rings. ( info)
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