Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the association between Axenfeld-Rieger syndrome and specific brain MR imaging neuroradiologic anomalies in cases with or without a genetic diagnosis. This case series included 8 individuals with pathogenic variants in FOXC1; 2, in PITX2; and 2 without a genetic diagnosis. The most common observation was vertebrobasilar artery dolichoectasia, with 46% prevalence. Other prevalent abnormalities included WM hyperintensities, cerebellar hypoplasia, and ventriculomegaly. Vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs were reported in >50% of individuals with FOXC1 variants compared with 0% of PITX2 variants. Notwithstanding the small sample size, neuroimaging abnormalities were more prevalent in individuals with FOXC1 variants compared those with PITX2 variants.

Neuroradiological Mimics of Periventricular Leukomalacia.

AIM: Periventricular leukomalacia (PVL) is a term reserved to describe white matter injury in the premature brain. In this review article, the authors highlight the common and rare pathologies mimicking the chronic stage of PVL and propose practical clinico-radiological criteria that would aid in diagnosis and management. METHODS AND RESULTS: The authors first describe the typical brain MRI (magnetic resonance imaging) features of PVL. Based on their clinical presentation, pathologic entities and their neuroimaging findings were clustered into distinct categories. Three clinical subgroups were identified: healthy children, children with stable/nonprogressive neurological disorder, and those with progressive neurological disorder. The neuroradiological discriminators are described in each subgroup with relevant differential diagnoses. The mimics were broadly classified into normal variants, acquired, and inherited disorders. CONCLUSIONS: The term "PVL" should be used appropriately as it reflects its pathomechanism. The phrase "white matter injury of prematurity" or "brain injury of prematurity" is more specific. Discrepancies in imaging and clinical presentation must be tread with caution and warrant further investigations to exclude other possibilities.

Neuroimaging Perspectives of Perinatal Arterial Ischemic Stroke.

Perinatal stroke ranks second only to that of adult stroke in the overall stroke incidence. It is a major contributor to long-term neurological morbidity, which includes cognitive dysfunction, cerebral palsy and seizures. Risk factors for stroke in the perinatal period differ from those in children and tend to be multifactorial. Differences in territorial predilection, response to injury, and stroke evolution exist when compared with childhood and adult stroke, and also among differing gestation age groups in the perinatal period (i.e., extreme preterm versus preterm versus term). The role of imaging is to diagnose stroke, exclude stroke mimics, establish the nature of stroke (arterial versus venous), and aid in prognostication. Magnetic resonance imaging is the mainstay of neuroimaging in perinatal stroke. Advanced imaging techniques such as diffusion tensor imaging and perfusion-weighted imaging are emerging as useful supplements to conventional imaging sequences. Here we describe the neuroimaging of perinatal arterial ischemic stroke with emphasis on imaging techniques, imaging phenotypes, stroke evolution, role of advanced imaging, and differences between stroke in preterm and term neonates. We also briefly describe the emerging role of fetal magnetic resonance imaging in the diagnosis of in utero stroke.

Tubulinopathies.

Mutations causing dysfunction of the tubulins and microtubule-associated proteins, otherwise known as tubulinopathies, are a group of recently described entities, that lead to complex brain malformations. An understanding of the fundamental principles of operation of the cytoskeleton and compounds in particular microtubules, actin, and microtubule-associated proteins, can assist in the interpretation of the imaging findings of tubulinopathies. Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Recognizing the common imaging phenotypes present in tubulinopathies can prove invaluable in directing the genetic workup for a patient with brain malformations.

Pediatric Brain Tumor Genetics: What Radiologists Need to Know.

Brain tumors are the most common solid tumors in the pediatric population. Pediatric neuro-oncology has changed tremendously during the past decade owing to ongoing genomic advances. The diagnosis, prognosis, and treatment of pediatric brain tumors are now highly reliant on the genetic profile and histopathologic features of the tumor rather than the histopathologic features alone, which previously were the reference standard. The clinical information expected to be gleaned from radiologic interpretations also has evolved. Imaging is now expected to not only lead to a relevant short differential diagnosis but in certain instances also aid in predicting the specific tumor and subtype and possibly the prognosis. These processes fall under the umbrella of radiogenomics. Therefore, to continue to actively participate in patient care and/or radiogenomic research, it is important that radiologists have a basic understanding of the molecular mechanisms of common pediatric central nervous system tumors. The genetic features of pediatric low-grade gliomas, high-grade gliomas, medulloblastomas, and ependymomas are reviewed; differences between pediatric and adult gliomas are highlighted; and the critical oncogenic pathways of each tumor group are described. The role of the mitogen-activated protein kinase pathway in pediatric low-grade gliomas and of histone mutations as epigenetic regulators in pediatric high-grade gliomas is emphasized. In addition, the oncogenic drivers responsible for medulloblastoma, the classification of ependymomas, and the associated imaging correlations and clinical implications are discussed. ©RSNA, 2018.

Neuroimaging Findings in Lysosomal Disorders: 2018 Update.

Lysosomal storage disorders are a heterogeneous group of genetic diseases characterized by defective function in one of the lysosomal enzymes. In this review paper, we describe neuroradiological findings and clinical characteristics of neuronopathic lysosomal disorders with a focus on differential diagnosis. New insights regarding pathogenesis and therapeutic perspectives are also briefly discussed.

Primary cutaneous adenoid cystic carcinoma with brain metastases: case report and literature review.

Primary cutaneous adenoid cystic carcinoma (ACC) is a rare skin tumor that is unlikely to metastasize. We present a case of primary cutaneous ACC in a 67-year-old male with axillary lymph node, pulmonary and brain metastases. To the best of our knowledge, this is the first reported case of cutaneous ACC with distant metastases to the brain.

Role of neuroimaging in multidisciplinary approach towards Non-Alzheimer's dementia.

Dementia is defined as chronic deterioration of intellectual function and cognitive skills significant enough to interfere with the ability to perform daily activities. Recent advances in the treatment of dementia have renewed interest in the use of various neuroimaging techniques that can assist in the diagnosis and differentiation of various subtypes. Neuroimaging and computational techniques have helped the radiological community to monitor disease progression of various neurodegenerative conditions presenting with dementia, such as Alzheimer disease, frontotemporal lobe dementia (FTLD), progressive supranuclear palsy (PSP) and multisystem atrophy-cerebellar variant (MSA-C), and their response to newer therapies. Prompt identification of treatable or reversible forms of dementia, such as tumours, subdural haemorrhage and intracranial dAVF, is crucial for the effective management of these conditions. It is also prudent to recognize the imaging spectrum of metabolic, infective and autoimmune diseases with rapidly progressing dementia, such as methanol toxicity, central pontine myelinolysis (CPM), delayed post hypoxic leukoencephalopathy (DPHL), HIV, Creutzfeldt-Jakob Disease (CJD), Sjogren's syndrome, multiple sclerosis (MS), radiation necrosis and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS), which are difficult to treat and often require palliative care. This pictorial review emphasizes various non-Alzheimer's dementia entities and discusses their imaging highlights. Teaching Points • Non Alzheimer's dementia constitutes a broad spectrum of conditions. • Neuroimaging plays an important role in differentiating treatable from irreversible dementia. • Neuroimaging is often non-specific in early stages of neurodegenerative conditions with dementia. • Neuroimaging plays an important role in the multimodal approach towards management of dementia.

CT based evaluation of odontoid morphology in the Indian population.

BACKGROUND: Anterior fixation using two 3.5 mm screws is typically recommended for type II odontoid fractures. However, it is unsuitable in patients with an odontoid diameter of <9.0 mm. There is no data regarding the morphology of odontoid process in the Indian population. The aim of our study was to: a) Measure the external diameters of odontoid process in the Indian population using CT scan and thus determine the feasibility of two 3.5 mm screw fixation in them. b) Determine if any correlation exists between body height (Ht) and weight (Wt) and external odontoid diameters. MATERIALS AND METHODS: CT images of odontoid process of 100 consecutive patients were analyzed. Antero- posterior (AP) and transverse (TD), outer diameters of the odontoid process were measured from the base and at 1 mm interval upwards on axial CT images. RESULTS: The mean AP and mean TD were 11.52 mm and 9.85 mm, respectively. Fifty-five (55%) of the patients had at least one TD <9.0 mm. Five (5%) patients had at least one TD <7.4 mm. None of the patients had any diameter <5.5 mm. Body Ht correlated significantly with mean AP and mean TD of the odontoid process (AP: r = 0.276, P = 0.013; TD: r = 0.359, P = 0.001), whereas body Wt correlated significantly only with mean TD (AP: r = 0.162, P = 0.15; TD: r = 0.297, P = 0.007). CONCLUSION: More than half of the study population (55%) was unsuitable for two 3.5 mm screw fixation for type II odontoid fracture. Two 2.7 mm screws can be safely used in 95% of the population. A 4.5 mm Herbert screw can be safely used in the entire population. We recommend two 2.7 mm screws or a 4.5 mm Herbert screw for fixation of these fractures in the Indian population. Body height showed a significant correlation with external odontoid diameters, whereas weight showed significant correlation only with TD of the odontoid process.

Hérnia discal lombar com migração posterior - dilema em diagnóstico por imagem devido a contraindicação ao uso de contraste: relato de um caso / Posterior migration of lumbar disc herniation - imaging dilemma due to contrast contraindication: a case report

Disc herniation with posterior epidural migration is a rare and often symptomatic entity. Multiple are the natural barriers that prevent this pattern of migration. Enhanced magnetic resonance imaging is the diagnostic modality of choice in these cases. The diagnostic dilemma in this case was the contraindication to the use of contrast since the patient was known to have chronic renal failure.

Hérnia discal com migração epidural posterior é uma entidade rara e frequentemente sintomática. Múltiplas são as barreiras naturais que impedem esse padrão de migração. A ressonância magnética contrastada é a modalidade diagnóstica de escolha nesses casos. O dilema diagnóstico, neste caso, foi a contraindicação ao uso de contraste, uma vez que o paciente era portador de insuficiência renal crônica.

Case report: Periorbital intraosseous hemangiomas.

Hemangiomas are hamartomatous proliferation of vessels. Intraosseous hemangiomas of the facial bones are rare and most commonly involve the zygoma, maxilla, mandible, and the nasal bones. A "sunburst" pattern is a typical appearance on CT scan and MRI and therefore a biopsy is not always necessary. Surgery is usually performed in symptomatic cases. The authors describe five typical periorbital intraosseous hemangiomas with a brief review of literature.