Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases

Mitochondrial diseases (MDs) are heterogeneous genetic disorders characterized by mitochondrial DNA (mtDNA) defects, involving tissues highly dependent on oxidative metabolism: the inner ear, brain, eye, skeletal muscle, and heart. We describe adult patients with genetically defined MDs, characterizing hearing function and neuroimaging results. We enrolled 34 patients (mean age: 50.02 ± 15 years, range: 18–75 years; 20 females and 14 males) classified in four groups: MELAS, MIDD, PEO, and Encephalopathy/Polyneuropathy. Audiological evaluations included psychoacoustical tests (pure-tone and speech audiometry), electrophysiological tests (Auditory Brainstem Responses, ABRs), and Impedenzometry. Neuroimaging evaluations considered global MRI abnormalities or structural brain changes. In total, 19/34 patients carried the m.3243A > G mutation (6 affected by MELAS, 12 affected by MIDD, and 1 affected by PEO); 11 had an mtDNA deletion (all affected by PEO); 3 had nuclear genes associated with MDs (POLG1 and OPA1); and 1 patient had an mtDNA deletion without an identified nuclear gene defect (affected by PEO). Sensory neural, bilateral, and symmetrical hearing loss was present in 25 patients (73.5%) to different degrees: 9 mild, 9 moderate, 5 severe, and 2 profound. The severe/profound and mild hearing losses were associated with pantonal and high-frequency audiograms, respectively. Instead, moderate hearing losses were associated with both high-frequency (five cases) and pantonal (five cases) audiogram shapes. In addition, 21/25 patients showed a cochlear site of lesion (84%), and 4/25 (16%) showed a retrocochlear site. We found global MRI abnormalities or structural brain changes in 26/30 subjects (86.6%): 21 had white matter abnormalities, 15 had cortical atrophy, 10 had subcortical atrophy, 8 had basal nuclei involvement or cerebellar atrophy, 4 had stroke-like lesions or laminar necrosis, and 1 had cysts or vacuolated lesions. We concluded that genetic alterations are associated with different clinical presentations for both auditory function and neuroradiological findings. There is no fixed relationship between genotype and phenotype for the clinical conditions analyzed

Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings

Purpose: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. Methods: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubMed Central using the key terms “adult” or “pediatric” and “atypical teratoid/rhabdoid tumor”. We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. Results: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. Imaging findings: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. Conclusion: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination

Brain atrophy pattern in patients with mild cognitive impairment: MRI study.

We evaluated the accuracy of the quantitative and semiquantitative analysis in detecting regional atrophy patterns and differentiating mild cognitive impairment patients who remain stable (aMCI-S) from patients who develop Alzheimer's disease (aMCI-AD) at clinical follow-up. Baseline magnetic resonance imaging was used for quantitative and semiquantitative analysis using visual rating scales. Visual rating scores were related to gray matter thicknesses or volume measures of some structures belonging to the same brain regions. Receiver operating characteristic (ROC) analysis was performed to assess measures' accuracy in differentiating aMCI-S from aMCI-AD. Comparing aMCI-S and aMCI-AD patients, significant differences were found for specific rating scales, for cortical thickness belonging to the middle temporal lobe (MTL), anterior temporal (AT), and fronto-insular (FI) regions, for gray matter volumes belonging to MTL and AT regions. ROC curve analysis showed that middle temporal atrophy, AT, and FI visual scales showed better diagnostic accuracy than quantitative measures also when thickness measures were combined with hippocampal volumes. Semiquantitative evaluation, performed by trained observers, is a fast and reliable tool in differentiating, at the early stage of disease, aMCI patients that remain stable from those patients that may progress to AD since visual rating scales may be informative both about early hippocampal volume loss and cortical thickness reduction

Aortic dissection in the thrombolysis era: Rare but potentially fatal cause of stroke

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Correlation between Thrombus Perviousness and Distal Embolization during Mechanical Thrombectomy in Acute Stroke

Purpose: Thrombus permeability has been related to clot composition and treatment outcomes in stroke patients undergoing reperfusion therapies. The aim of this study was to evaluate whether thrombus perviousness, evaluated by multiphase computed tomography angiography (mCTA), is associated with distal embolization risk. Methods: We interrogated our dataset of acute ischemic stroke (AIS) patients involving the M1 segment of the middle cerebral artery (MCA) who had undergone mechanical thrombectomy, and we calculated thrombus average attenuation measurement (dHU) on non-contrast CT (NCCT) and clot perviousness on mCTA. dHU was calculated as the difference between the thrombus HU average value (tHU) and the HU average value on the contralateral side (cHU), while perviousness was calculated as the difference in mean clot density on mCTA and NCCT both in arterial (Perviousness pre-post-1) and delayed (Perviousness pre-post 2) phases. Results: A total of 100 patients (53 females (53%), mean age 72.74 [± 2.31]) with M1 occlusion were available for analysis. Perviousness, calculated between baseline and arterial phase of mCTA (Perviousness pre-post1), was lower in patients with distal embolization (p = 0.05), revealing an association between reduced perviousness and distal embolization risk. Logistic regression showed that thrombus perviousness calculated on the arterial phase of mCTA (OR, 0.66; 95% CI, 0.44–0.99] (p = 0.04)) and the contact aspiration technique (OR, 0.39; 95% CI, 0.15–1.02] (p = 0.05)) were protecting factors against distal embolization. Conclusion: Our study showed an association between reduced perviousness and distal embolization, suggesting that perviousness evaluation may be a useful neuroimaging biomarker in predicting distal embolization risk during mechanical thrombectomy

Role of "major" and "minor" lambdoid arch sutures in posterior cranial fossa changes: mechanism of cerebellar tonsillar herniation in infants with multisutural craniosynostosis

This study aimed to explain the functional role of lambdoid arch sutures in the development of cerebellar tonsillar herniation. Posterior cranial fossa (PCF) changes were investigated in infants with premature synostosis of the major and minor sutures of the lambdoid arch without premature synostosis of the PCF synchondroses

Reduced time of arrival on brain perfusion ct in a patient with recurrent cryptogenic stroke: an indirect sign of a patent foramen ovale.

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Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

Purpose: We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression. Methods: We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume. Results: All patients showed synostosis of spheno-occipital synchondroses, eight showed synostosis of intra-occipital synchondroses, nine showed CCJ impingement on the cervical cord but only three had cervical myelopathy. Compared to controls, clivus and exocciput lengths, LL and AP diameters of FM, FM area and JF area were significantly reduced, supraocciput length, tentorial angle, PCFV, PCFBV, cerebellar volume, supratentorial ventricular system volume were significantly increased. A correlation was found between clivus length and supratentorial ventricular volume, premature closure of intra-occipital synchondroses and FM area while a trend was found between FM area and supraocciput length. Conclusion: Our analysis demonstrates a relationship between the shortening of the clivus and the ventriculomegaly. On the other hand the premature closure of PCF synchondroses, the shape, and the growth direction of supraocciput bone contribute to reduce the FM area, causing in some patients medullary compression

Thrombosis of a Developmental Venous Anomaly in Inflammatory Bowel Disease: Case Report and Radiologic Follow-up

Developmental venous anomalies (DVAs) are benign embryologic vascular variants, and before the advent of computed tomography and magnetic resonance imaging were supposed to be rare conditions. Usually, DVAs are asymptomatic and accidentally discovered during routine brain imaging studies, but sometimes they can be the cause of disabling neurologic symptoms. We describe the clinical and neuroradiologic follow-up of a 62-year-old man with a history of inflammatory bowel disease (IBD) presenting with new onset epilepsy and intracranial hemorrhage caused by thrombosis of a DVA who fully recovered after treatment with oral anticoagulant therapy. Patients with IBD have an increased risk of thrombosis because of inflammatory activity and the hypercoagulable state. Here we describe the first case of DVA thrombosis in a patient with IBD, and we show clinical and neuroradiologic follow-up after anticoagulant therapy

Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding

This study aimed to assess changes in the posterior cranial fossa (PCF) to shed light on the mechanism of cerebellar herniation in children with Costello syndrome (CS) and posterior fossa crowding. We performed a morphovolumetric PCF analysis on brain magnetic resonance imaging (MRI) in seven children with CS (mean age 31 ± 16 months) comparing the MRI scans with those of seven age-matched healthy subjects.PCF volume (PCFV), PCF brain volume (PCFBV) and cerebellar volume (CeV) were assessed on axial T2-weighted MRI. Morphometric parameters (diameters of the foramen magnum, tentorial angle, basiocciput, supraocciput, basisphenoid and exocciput lengths) were measured on sagittal T1-weighted MRI. The volume of the cerebrospinal fluid (CSF) spaces was calculated as PCFV minus PCFBV.Five out of seven CS children showed tonsillar herniation in the upper cervical canal; no child had hydrocephalus but three out of seven children showed ventriculomegaly. In addition, the PCFV/PCFBV ratio, PCFV, CSF spaces volume, basiocciput, basisphenoid and exocciput lengths and latero-lateral and antero-posterior diameters of the foramen magnum were significantly reduced, whereas no significant changes were found in supraocciput length, PCFBV, CeV or hindbrain volume. The volumetric reduction of the PCF due to bony posterior fossa hypoplasia is a predisposing factor for developing cerebellar tonsillar herniation through the foramen magnum in children with CS. The altered anatomy of the foramen magnum and upward expansion of the PCF secondary to an increased tentorial slope serves to explain the possible mechanism of cerebellar herniation in patients with CS