Search results for " malformation"
showing 10 items of 185 documents
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…
Congenital hepatic fibrosis: CT findings in 18 adults.
2004
To evaluate the computed tomographic (CT) findings in adult patients with pathologically proved congenital hepatic fibrosis.This was a retrospective review of congenital hepatic fibrosis cases identified at two institutions over the course of 8 years. Eight men and 10 women with an age range of 22-72 years (mean age, 39 years) were included. Contrast material-enhanced and unenhanced CT scans were obtained through the liver in all patients. Two radiologists evaluated size of and morphologic findings (atrophy or hypertrophy localized according to hepatic segments) in the liver; increased diameter or number of hepatic arteries at the hilum; presence of hepatic nodules, varices, spontaneous spl…
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
2021
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 pat…
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…
Surgical Treatment in Symptomatic Chiari Malformation Type I: A Series of 25 Adult Patients Treated with Cerebellar Tonsil Shrinkage
2019
Background: The variety of symptoms and radiological findings in patients with Chiari malformation type I makes both the indication for surgery and the technical modality controversial. We report our 5-year experience, describing our technique and critically evaluating the clinical results. Methods: Between 2012 and 2016, 25 patients (15 female and 10 male; mean age 39.2 years) underwent posterior fossa decompression for Chiari malformation type I. Their clinical complaints included headache, nuchalgia, upper limb weakness or numbness, instability, dizziness and diplopia. Syringomyelia was present in 12 patients (48%). Suboccipital craniectomy was completed in all cases with C1 laminectomy …
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 …
Assessment of brainstem function in Chiari II malformation utilizing brainstem auditory evoked potentials (BAEP), blink reflex and masseter reflex
2000
Brainstem dysfunction was evaluated in 67 patients with myelomeningocele and Chiari II malformation using brainstem auditory evoked potentials (BAEP), blink reflex (BR) and masseter reflex (MR). Signs and symptoms related to Chiari II malformation were observed in 18 patients while 49 patients had normal brainstem findings. BAEP and BR showed a higher sensitivity of brainstem involvement than MR (BAEP=1.0, BR=0.83, MR=0.50). BR, and in particular, MR were of higher accuracy (BR=0.52, MR=0.72) than BAEP (0.39) in separating patients with brainstem signs and symptoms related to Chiari II malformation. We feel that this is due to anatomic and physiologic peculiarities of the brainstem structur…
Monosymptomatic presentation of type I Arnold-Chiari malformation: report of two cases.
1994
Two cases of type I ACM are described, one of which presented with dizziness in late childhood (case 1), the other with mild intention tremor in adulthood (case 2). Cerebellar ectopia should be considered in monosymptomatic patients even in the absence of other symptoms and signs of C.N.S. dysfunction. Magnetic resonance imaging of the craniocervical junction should be performed because it may be diagnostic for type I ACM.