Cavernomas are vascular malformations mostly observed in the central nervous system. They occur in sporadic and familial forms. Familial forms are characterized by the presence of multiple lesions, ...an autosomal dominant pattern of inheritance and possible de novo lesions. We report two sporadic cases whose follow-up showed the appearance of new lesions.
Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being ...characterized by the presence of multiple CCM lesions. Stereotyped truncating mutations of KRIT1, the sole CCM gene identified so far, have been identified in CCM1 linked families but the clinical features associated with KRIT1 mutations have not yet been assessed in a large series of patients. We conducted a detailed clinical, neuroradiological and molecular analysis of 64 consecutively recruited CCM families segregating a KRIT1 mutation. Those families included 202 KRIT1 mutation carriers. Among the 202 KRIT1 mutation carriers, 126 individuals were symptomatic and 76 symptom‐free. Mean age at clinical onset was 29.7 years (range, 2–72); initial clinical manifestations were seizures in 55% of the cases and cerebral hemorrhages in 32%. Average number of lesions on T2 weighted MRI was 4.9 (±7.2) and on gradient echo sequences 19.8 (±33.2). Twenty‐six mutation carriers harbored only one lesion on T2‐weighted MRI, including 4 mutation carriers, aged from 18 to 55 yr‐old, who presented only one CCM lesion both on T2‐weighted and on highly sensitive gradient echo MRI sequences. Five symptom free mutation carriers, aged from 27 to 48 yr‐old, did not have any detectable lesion both on T2WI and gradient echo MRI sequences. Within KRIT1/CCM1 families, both clinical and radiological penetrance are incomplete and age dependent. Importantly for genetic counseling, nearly half of the KRIT1 mutation carriers aged 50 or more are symptom‐free. The presence of only one lesion, even when using gradient echo MRI sequences, can be observed in some patients with an hereditary form of the disease. Incomplete neuroradiological penetrance precludes the use of cerebral MRI to firmly establish a non carrier status, even at an adult age and even when using highly sensitive gradient echo MRI. Altogether these data suggest that the hereditary nature of the disorder may be overlooked in some mutation carriers presenting as sporadic cases with a unique lesion. Ann Neurol 2004
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
The management of wide-necked aneurysms or aneurysms with a neck-to-body ratio close to 1 is a difficult challenge for the interventional radiologist because of the risk of coil migration or coil ...protrusion into the parent vessel. Our objective was to evaluate the efficacy and safety of balloon-assisted coiling as well as the follow-up results of occlusion for those difficult aneurysms in which conventional treatment with Guglielmi detachable coils (GDCs) had failed.
A nondetachable balloon was used in 49 procedures performed in 44 patients (35 women and nine men) who underwent GDC coiling of aneurysms. Every aneurysm had either a wide neck or a sac diameter/neck size ratio (SNR) of 1.5 or less.
In four (8%) of the procedures, balloon placement failed, leaving a total of 45 aneurysms treated with balloon-assisted coiling. Final results consisted of total occlusion in 30 cases (67%), subtotal occlusion in 11 cases (24%), and incomplete occlusion in four cases (9%). We found a correlation between the diameter of the sac and the occlusion rate, but not between the size of the neck or the SNR and the occlusion rate. Two thromboembolic complications occurred, but neither had clinical consequences. No aneurysmal rupture was observed during treatment. Final angiographic follow-up time ranged from 3 months to 5 years (mean, 16 months).
Balloon-assisted coiling is an important adjunct in the treatment of aneurysms with a wide neck or low SNR. In our experience, this technique allowed safe and efficient treatment of aneurysms when conventional GDC treatment had failed.
Antibody-mediated rejection (AMR) is characterized by histopathological and immunophenotypic findings such as activated endothelial cells, intravascular macrophages and evidence of capillary C4d ...deposition. This inflammatory reaction could be followed by diffuse fibrosis. Cardiac magnetic resonance (CMR) with recently T1 mapping is a promising technique to identify diffuse myocardial fibrosis. The purpose of this study was to assess T1 mapping in patients with AMR.
2 patients with clinical AMR (histopathological and immunophenotypic findings, presence of donor-specific allo antibodies and allograft dysfunction) performed a CMR study one week (for the first patient) and 3 weeks (for the second patient) after the treatment of AMR (plasmapheresis, IV Immunoglobulins and Rituximab). Images were acquired on a 1.5 Tesla scanner (Siemens) including T1 mapping using a shortened modified look-locker inversion-recovery sequence and T2 mapping in a matched mid-ventricular short axis slice using a black- blood single shot fast spin echo pulse sequence. Segmental and global T1 values were measured before and 15 minutes after administration of 0.2mmol/kg of Gadoteric acid and compared to our cohort of 17 controls.
Mean non contrast T1 values were significantly higher in heart transplants patients compared to controls (1100±5ms vs 947±29ms, P<0.001). Segmental T1 values were significantly higher in the 6 regions of interest compared to controls (P <0.001 in all segments). Mean post contrast T1 values were not significantly different in patients and controls. Mean T2 value was higher in patients compared to controls (73±13 vs 50± 4ms), suggesting the presence of global edema.
Heart transplant patients with clinical antibody-mediated rejection show a significant increased global and segmental non contrast T1 values suggesting the presence of diffuse myocardial fibrosis. Further studies are required to confirm these data.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
We report a rare case of amebiasis generating 19 large liver abscesses. Such a quantity of abscesses is rare, especially when occurring in a young casual traveler without any immunodeficiency ...disorders. A possible co-infection was excluded. By contrast, the amebic etiology was confirmed by means of serology and real-time PCR.
T2- and T1-mapping are novel CMR techniques allowing tissue characterization.
To assess myocardial involvement using T2- and T1-mapping in Tako-Tsubo cardiomyopathy (TC).
9 patients with TC and 15 ...controls were prospectively enrolled. Cardiovascular magnetic resonance (CMR) was performed a mean 2.8 days after the onset of symptoms and after a mean 4.6 month follow-up. CMR was applied using T2-mapping, pre and post contrast T1-mapping (MOLLI) and late gadolinium enhancement (LGE) sequences. Segmental and global T1 values have been measured before and after contrast administration.
All patients were female, had positive troponin (6±9µg/l) and medium and/or apical ballooning associated with moderate LV dysfunction (EF 44±7%). On admission, compared with controls, TC patients had significantly higher T2 values (65±6ms vs 50±4ms, p<0.0001). Myocardial T2 was significantly higher in segments with Wall motion abnormality (WMA) compared to normokinetic segments (67±12ms vs 61.5±8ms, p=0.003). Compared with controls, TC patients had significantly higher pre contrast T1 values (1115±92 versus 1016±89, p<0.0001) and significantly lower post contrast T1 values (428±24ms vs 466±19ms, p=0.02).Pre contrast T1 values were significantly higher in segments with WMA compared to normal segments (1126±95 vs 1089±85, p=0.016).
Post contrast T1 values were not significantly different in abnormal segments compared to normal segments (421±56 vs 431±50, p=0.15). No patients had LGE. At follow-up: all had a complete LV recovery (EF: 67±4%) without significant WMA. Mean T2 and pre contrast T1 values decreased significantly (53±6ms vs 65±8ms, p=0.001 and 1016±76 vs 1115±80, p=0.001 respectively). No differences were observed regarding post contrast T1 values.
In TC patients, T2-mapping and pre contrast T1-mapping allow identification of reversible myocardial injury. Post contrast T1 mapping does not provide additional information.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
The purpose of this study was to analyze the technical features of uterine artery embolization and to evaluate the effectiveness of this method as the primary treatment of uterine leiomyomas in a ...series of 58 patients monitored by clinical and sonographic examinations.
Fifty-eight women (age range, 33-65 years; mean age, 44.5 years) with symptoms caused by uterine leiomyomas (abnormal bleeding, bulk-related symptoms, pelvic pain) were included in this prospective study. We performed embolization with a single catheter using the single-femoral artery approach, injection of particles (150-250 mm), and an absorbable gelatin sponge. Postprocedural pain was assessed using a visual analog scale. Systematic follow-up included clinical and sonographic examinations at 3 months for 58 patients, at 6 months for 46 patients, at 1 year for 27 patients, and at 2 years for seven patients.
Embolization was performed without problems in 84% of the patients. Post-procedural pain control was excellent in 90% of the patients. In most patients, symptoms were improved or had resolved at 3 months (90%), 6 months (92%), and 1 year (93%), and all patients were symptom-free at 2 years. Clinical failure of treatment occurred in only two patients (3%). Progressive reduction in leiomyoma size was revealed during sonographic follow-up, and new leiomyomas were seen in one patient at 2 years.
Uterine artery embolization is an endovascular method for the treatment of uterine leiomyomas that is clinically effective in most patients and that induces a progressive reduction in the size of the largest leiomyomas.
Pneumomediastinum may occur during marijuana inhalation but only rarely has pneumorachis (epidural pneumatosis or aerorachia) been reported. The usual mechanisms that produce pneumomediastinum ...include severe acute asthma, toxic-induced bronchial hyperreactivity, and barotrauma caused by Valsalva's maneuver (expiration through resistance). We report a case in which barotrauma resulted from repeated deep inspiration through a device with airflow resistance equivalent to Müller's maneuver. Inspiration occurred through a homemade apparatus resembling a narrow outlet bong with 2 piled compartments. Pneumomediastinum combined with subcutaneous emphysema and pneumorachis occurred, without identified pneumothorax. There were no neurologic complications. Because of the absence of bronchospasm, expiration either through the apparatus or actively against a closed glottis, or apnea, this phenomenon is likely a result of repeated Müller's maneuvers. Successive inhalation through resistance could have resulted in extreme negative intrathoracic pressure, which would have caused a transmural pressure gradient inducing barotrauma and release of extrarespiratory air. High-concentration oxygen therapy to achieve nitrogen washout was used. Hazouard E, Koninck J-C, Attucci S, Fauchier-Rolland F, Brunereau L, Diot P. Pneumorachis and pneumomediastinum caused by repeated Müller's maneuvers: complications of marijuana smoking. Ann Emerg Med. December 2001;38:694-697.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
We used MR angiography to examine and follow up the changes of dissecting aneurysms of the extracranial internal carotid artery (ICA).
We retrospectively reviewed the records of 101 consecutive ...patients with dissecting aneurysms of the extracranial ICA. Twenty patients with 26 spontaneous dissecting aneurysms were followed up with MR angiography every 1-2 years (men, 16; women, four; age range, 28-67 years; mean age, 51 years).
The mean duration of follow-up was 41 months (range, 10-93 months). At MR angiography follow-up, 20 aneurysms did not change, four decreased from their original size by 33-53% (mean, 43%), and two resolved. One patient had an asymptomatic recurrent dissecting aneurysm of the extracranial ICA. Clinically, no patient had a thromboembolic stroke or transient ischemic attack during the follow-up period.
MR angiography revealed that dissecting aneurysms of the extracranial ICA remain stable, decrease in size, or resolve--but they do not increase in size.
Spinal MR findings are reported in a patient with progressive myelopathy and intracranial dural arteriovenous fistula draining into spinal veins. Associated with previously reported abnormalities on ...T1 weighted and T2 weighted images, postcontrast T1 weighted images disclosed diffuse intense enhancement of the cervical cord itself. This enhancement decreased after endovascular treatment.
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