Search results for " malformations"
showing 10 items of 94 documents
Stereotactically guided cavernous malformation surgery.
1996
The incidence of a significant hemorrhage in the natural history of cavernomas is below 1% per year, but the risk of a second hemorrhage in patients with initial bleeding cavernomas is between 14% and 29%. In the light of these figures, all cavernomas ought to be resected if surgical-related morbidity can be minimized. Stereotactically guided neurosurgery offers the advantage of planning the least traumatic approach before craniotomy due to the knowledge of the exact localisation of the lesion. During a 2-year period 12 patients (age 16-54 years) with intracranial supratentorial cavernomas (size 0.5-1.8 cm) were treated by stereotactically guided microsurgery. The cavernomas were seated in …
Cerebral angiomas: Influence of morphological aspects such as size and site on their clinical behavior with special reference to the mode of bleeding
1987
The following paper presents analysis of 182 cases of arteriovenous malformations treated surgically at the Neurosurgical Department of the Johannes Gutenberg-Universität Mainz, FRG. Although the behavior of AVMs remains unpredictable, morphological features of AVMs have an important bearing on their clinical presentation, especially the mode of bleeding.
Endovascular treatment of head and neck arteriovenous malformations: long-term angiographic and quality of life results.
2016
AimTo present the long-term angiographic and subjective results of patients with head and neck arteriovenous malformations (HNAVMs) after endovascular treatment.MethodsWe retrospectively analyzed the medical files of 14 patients with HNAVM who were treated between 2000 and 2014. The treatment of choice was a transarterial superselective microcatheter-based approach followed by embolization using liquid embolic agents. The patients were asked to answer a quality of life questionnaire about the following symptoms before and after treatment: pain, functional impairment, cosmetic deformity, impairment in daily life, and bleeding.ResultsComplete or >90% closure of the AVM was achieved in 6 of…
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
2013
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
2005
Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. Objective: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. Methods: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected indi…
Accuracy of SWI sequences compared to T2*-weighted gradient echo sequences in the detection of cerebral cavernous malformations in the familial form
2016
Purpose The purpose of this study was to assess the accuracy of susceptibility-weighted imaging (SWI), compared with T2*-weighted gradient echo (GRE) imaging in assessing cerebral cavernous malformations. Materials and methods We retrospectively evaluated 21 patients with a familial form of cavernous malformation. Magnetic resonance (MR) protocol included non-enhanced and contrast-enhanced fast-spin echo (FSE) T1-weighted sequences, FSE T2-weighted sequences, fluid-attenuated inversion-recovery (FLAIR), GRE T2*-weighted and SWI sequences. Images were reviewed in consensus by two expert neuroradiologists to assess the location, number, size and conspicuity of the lesions on T2*-weighted GRE …
MRI findings in lingual venous malformations.
2003
To describe the plain and enhanced MRI findings of lingual venous malformations and to discuss the importance of contrast medium in the differential diagnosis of high intensity lesions of the tongue on T(2) weighted images.The clinical records and MR images of eight patients affected by a lingual venous malformation were retrospectively reviewed. Patients presented with a palpable submucosal bluish-red soft mass in the tongue. MRI examinations were performed on a 0.5 T superconducting unit. Plain and enhanced SE (spin echo) T(1) weighted and FSE (fast spin echo) T(2) weighted images were acquired in axial, sagittal and coronal planes. Axial SPGR (spoiled gradient recalled echo) T(1) weighte…
Transoral transclival removal of anteriorly placed cavernous malformations of the brainstem.
2001
BACKGROUND The natural history of brain stem cavernous malformations is unfavorable because of their high hemorrhage rate and resulting neurological deterioration among patients. However, direct surgery of intrinsic and anteriorly situated cavernomas is hazardous and leads to a bad postoperative outcome because of trauma to lateral and dorsally situated eloquent areas of the brain stem. METHODS We review the cases of two patients with symptomatic cavernous malformations of the anterior brain stem and describe the usefulness of a transoral-transclival approach. A 23-year-old man developed progressive hemihypaesthesia and paraesthesia, hemiparesis with gait ataxia, dysarthria, dysphonia, and …
Fibroadipose Vascular Anomaly of the Upper Extremity
2021
ABSTRACT Alomari and colleagues described in 2014 for the first time a distinct combination of vascular malformation, fibrofatty muscular infiltration and contracture which was termed fibroadipose vascular anomaly (FAVA) (J Pediatr Orthoped 34, 109-117 (2014). So far only few publications (J Pediatr Orthoped (2014) 34, 109-117; J Hand Surg (2020). 45, 68.e1, 68.e13; Ann Vasc Dis (2014) 7, 316-319; Pediatr Radiol 46, 1179-1186 (2016)) concerning this newly described disease have been published, covering only a limited number of cases. We present a case of a 19-year-old male patient suffering from a FAVA of the proximal forearm with a severe contracture of the infiltrated flexor musculature. …
Use of long acting injectable aripiprazole before and through pregnancy in bipolar disorder: a case report
2019
Abstract Background Long-acting injectable (LAI) antipsychotics for psychotic disorders provide advantages in treatment compliance, but data on their use in pregnancy are very limited. We present a clinical case of aripiprazole LAI use in pregnancy. Case presentation A 43-year-old woman diagnosed with bipolar disorder, with several relapses due to treatment interruption while trying to conceive. Finally, aripiprazole LAI treatment was planned by mutual agreement between doctor and the patient, who took aripiprazole LAI before and during pregnancy. She gave birth at 40 weeks to a 3500 g baby girl with no congenital malformations, who was healthy at 5 months after delivery. Conclusion As far …