A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome

Wyburn-Mason's syndrome is a rare neurocutaneous disorder consisting mainly of unilateral arteriovenous malformations of the midbrain and retina with multiple cutaneous nevi. The authors report on the clinical presentation, neurologic phenotype, and long-term neurologic follow-up of two unrelated children. The first patient had recurrent epistaxis during early childhood. At the age of 7 years, he developed acute hemianopsia and right hemiplegia. Angiography revealed large bilateral arteriovenous malformations involving the midbrain thalamic area and the right optic nerve. During the following years, he had recurrent episodes of headache, right hemiplegia, and cognitive deterioration. The second patient had some episodes of epistaxis in the first years of life. At the age of 5 years, he presented with sudden onset of headache, followed by a loss of consciousness, vomiting, and, subsequently, visual disturbances. Angiography revealed deeply located arteriovenous malformations involving the right temporal, frontobasal, capsulonuclear, insular, and parietal areas and the right optic nerve. During the following years, he had an acute strokelike episode followed by transient hemiplegia and slow progressive signs, with mild worsening of cognitive abilities. Early onset of neurologic manifestations is a poor prognostic factor for long-term outcome.     

Techniques for the optimisation of coronary artery opacification in non-invasive angiography with a 16-row multislice computed tomography

PURPOSE: To compare two different techniques to improve vessels opacification in coronary angiography with multislice CT (MSCT) scanner. MATERIALS AND METHODS: Thirty consecutive patients were divided into two groups. In group 1, the synchronisation was obtained administering 20 ml of cm at 4 ml/s during a dynamic monitoring sequence. In group 2, the real time monitoring of the main bolus was used to trigger the scan. The CT angiography was performed in both groups by administering 100 ml of cm at 4 ml/s, with MSCT scanner and the following parameters: collimation 16 x 0.75 mm, rotation time 0.42 s, retrospective ECG gating. Three regions of interest were created in order to measure attenuation at: 1) ascending aorta (ROI 1); 2) descending aorta (ROI 2); 3) pulmonary artery (ROI 3). Attenuation was also measured at the origin of the main coronary arteries and their larger branches. RESULTS: The average time/density curve showed lower enhancement in group 1 compared to group 2 in the first 4 s and 7 s in ROI 1 and ROI 2, respectively (p<0.05). The maximum enhancement value were 342 HU and 347 HU for group 1 in ROI 1 and ROI 2, and 356 HU and 352 HU for group 2 in ROI 1 and ROI 2, respectively. The attenuation at the origin of the main coronary arteries was higher in group 2 than in group 1 (p<0.05). CONCLUSIONS: Real time monitoring technique allows to use 20% less cm and provides better and more homogeneous enhancement.     

Preventing adverse obstetric outcomes in women with genetic thrombophilia

OBJECTIVE: To improve fetomaternal outcomes in women with obstetric complications and inherited causes of thrombophilia. DESIGN: Clinical trial. SETTING: Thrombophilic women with previous unexplained adverse outcomes. PATIENT(S): Twenty-five women with previous severe obstetric complications were treated during and after pregnancy. INTERVENTION(S): Low fixed dose of heparin or aspirin. MAIN OUTCOME MEASURE(S): Fetomaternal outcome. RESULT(S): Low fixed dose of heparin were administered to 24 pregnant women, aspirin to 7. Overall, among 31 treated pregnant women, 28 (90.3%) compared to 4 of 58 (6.9%) in previous pregnancies had a good obstetric outcome. Two fetal losses <14 weeks gestation and a fetal growth restriction were registered. All newborns, except one, were in the tenth centile or above. All babies were discharged in good clinical status. In the treated pregnancies, no thrombosis or pharmacological side effect was recorded. CONCLUSION(S): Heparin prophylaxis at fixed low doses and possibly aspirin could be efficacious in preventing adverse outcomes in women carrying inherited thrombophilia with previous poor obstetric outcomes.     

Guillain-Barré syndrome after varicella zoster virus infections. A case report

The case of a 13 year-old patient affected by Guillain-Barré syndrome developed after varicella zoster virus infection is reported. Cerebrospinal fluid examination and motor and sensory conduction velocity were consistent with GBS. Antibodies against gangliosides GM1 were present; it is likely that some of these may play an important role in the pathogenesis of syndrome after varicella infection. The therapy was carried out with increasing high-doses of immunoglobulins, with full clinical recovery.     

Spiral CT-angiography with one, four, and sixteen slice scanners. Technical note

Aim of this paper is to describe the technical main features that characterize Spiral Computed Tomography (CT) angiography. In particular, the technical features of the three main generations of single, four, and sixteen multislice scanners have been analised. Particular attention have been addressed to scan and reconstruction parameters, and to the geometry of contrast material related to angiographic scan. Guidelines for the different generations of CT scanner have been extracted to give the radiologist a platform for diagnostic questions.     

High-dose sequential chemotherapy and peripheral blood progenitor cell autografting in patients with refractory and/or recurrent Hodgkin lymphoma: a multicenter study of the intergruppo Italiano Linfomi showing prolonged disease free survival in patients treated at first recurrence

BACKGROUND: The objective of the current study was to evaluate in a multicenter setting the feasibility and efficacy of a high-dose sequential (HDS) chemotherapy regimen that combined intensive debulking and high-dose therapy (HDT) with peripheral blood progenitor cell (PBPC) autografting in patients with refractory or recurrent Hodgkin lymphoma (HL). METHODS: Data were collected from 102 patients with HL who were treated with the HDS regimen at 14 centers associated with the Intergruppo Italiano Linfomi. Twenty-four patients had primary refractory HL, 59 patients had their first recurrence of HL (within 1 year in 32 patients and > 1 year in 27 patients), and 19 patients had multiple disease recurrences. The HDS regimen included the sequential delivery of high-dose (hd) cyclophosphamide with PBPC harvesting, methotrexate, etoposide, then HDT (usually hd mitoxantrone plus L-phenylalanine mustard) with PBPC autografting. In addition, radiotherapy was delivered to 36 patients at sites of bulky or persistent disease. RESULTS: Ninety-two patients (90%) completed the HDS program. There were five toxic deaths (treatment-related mortality rate, 4.9%) and six secondary malignan cies (five patients developed myelodysplastic syndrome/acute myelogenous leukemia, and one patient developed colorectal carcinoma). At a median follow-up of 5 years, the 5-year overall survival (OS) and event-free survival (EFS) projections were 64% (95% confidence interval [95% CI], 54-74%) and 53% (95% CI, 43-63%), respectively. Patients with their first recurrence had the most favorable outcome, with 5-year OS and EFS projections of 77% (95% CI, 66-88%) and 63% (95% CI, 50-76%), respectively. There were no significant differences between patients with early first recurrence and late first recurrence. The poorest outcome was observed in patients with refractory HL, with 5-year OS and EFS projections of 36% (95% CI, 16-55%) and 33% (95% CI, 14-52%), respectively. Patients who received HDS chemotherapy after multiple recurrences had an intermediate outcome. Multivariate analysis showed that refractory disease and systemic symptoms at the time of initial presentation were associated significantly associated with poor OS and EFS. CONCLUSIONS: The use of HDS chemotherapy for patients with refractory and/or recurrent HL is feasible at the multicenter level. The combination of intensive debulking and HDT with PBPC autografting offers a good chance of prolonged disease free survival for patients with their first recurrence of HL.     

The role of anthracyclines in combination chemotherapy for the treatment of follicular lymphoma: retrospective study of the Intergruppo Italiano Linfomi on 761 cases

In order to elucidate the role of anthracycline based combination chemotherapy regimens for the treatment of follicular lymphoma we conducted a retrospective study on a large series of patients with a histologically confirmed diagnosis of follicular lymphoma. The Italian lymphoma intergroup (ILI) promoted a retrospective study of patients with follicular lymphoma treated in cooperative trials between 1985 and 1996. Six hundred and thirty three cases were treated with an anthracycline-containing regimen and 128 patients were treated without anthracyclines. The two groups were prognostically comparable; in particular, no difference was observed according to both IPI and ILI prognostic index. Results showed a complete remission (CR) rate for patients treated with anthracyclines was 69.2% and overall response rate was 92.5%. After a median follow-up of 51 months (54 months for patients still alive), the 5- and 10-year overall survival (OS) rates were 80 and 66%, respectively. Disease-free survival (DFS) and failure-free survival (FFS) rates at 5 years were 61 and 49%, respectively. In the group of patients treated with combination chemotherapy not including anthracyclines, the CR rate was 67.5% and the overall response rate was 85.4%. A longer OS (80% at 5 years) was observed in patients treated with anthracyclines compared to 67% OS rate in patients treated without anthracyclines (p = 0.0004). FFS was significantly longer in patients treated with anthracyclines (49 vs. 34% p = 0.006). Patients treated with anthracyclines with low or intermediate risk according to ILI prognostic index showed a significantly longer OS (p = 0.0001 andp = 0.0009, respectively); those in the high-risk group showed a trend for a longer survival. In conclusion, this retrospective study shows that patients with follicular lymphoma treated with an anthracycline containing regimen had a better outcome compared to patients treated with other combination regimens non including anthracyclines in terms of CRs, OS and FFS. On the basis of these results anthracycline-containing regimens (ACR) should be considered as the standard treatment of patients with advanced follicular lymphoma.     

Hemihydranencephaly: case report and literature review

Hydranencephaly is a severe brain condition characterized by complete or almost complete absence of cerebral cortex with preservation of meninges, basal ganglia, pons, medulla, cerebellum, and falx. It has been ascribed to different causes (infections, irradiations, fetal anoxia, medications, twin-twin transfusion), all leading to vascular disruption. Hemihydranencephaly is an extremely rare condition in which the vascular anomaly is unilateral. We report on a patient who was suspected to have hydrocephalus in utero; a brain magnetic resonance imaging scan showed left-sided hydranencephaly with preservation of basal ganglia. The patient developed signs of right hemiparesis but notably has only mild language delay. The available literature on hemihydranencephaly is reviewed.