Showing 6 Abstracts.
Understand the molecular pathophysiology of SOXopathies, and to become familiar witht the Central Nervous System and Temporal Bone imaging findings of the most common SOXopathies. Read More
Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024
Authors: Osorio Duque Fernando, Subramanian Subramanian
Keywords: SOXopathies, SOX genes
Ultrasound is a common screening examination performed in infants prior to closure of osseous posterior elements. Although radiologists with pediatric neuroradiology subspecialty training may be very familiar with many abnormalities encountered sonographically, pediatric radiologists without pediatric neuroradiology subspecialty training are often less familiar. Further, the ultrasound appearance of abnormalities of infant spine may be less well known than appearance on MRI. The purpose of this educational review is to demonstrate normal appearance of infant spine and illustrate abnormalities that are frequently and infrequently encountered during screening ultrasound evaluation, with MRI for comparison. Read More
Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018
Authors: Poot Jeffrey, Subramanian Subramanian, Gumus Serter, Squires Judy
Keywords: Spine, Ultrasound, MRI
We present novel brain MRI findings in 2 children presenting with seizures due to TMCO1 mutation. Both children had absent olfactory bulbs and olfactory tracts and hippocampal malrotation. EEG demonstrated right temporal slow waves and intermittent focal slowing. One child had pontine hypoplasia, hypoplasia of bilateral optic nerves/chiasm, and an absent right cochlear nerve. In both children, there was increased mineralization in bilateral globi pallidi and bilateral substantia nigra on SWI sequence, possibly from excessive calcium. Ventriculomegaly and cavum septum pellucidum were also present in both children. Spine MRI revealed segmentation abnormalities including partial fusion of T2/T3 vertebral bodies and fusion of the posterior elements of T3-T5. Both children exhibited dysplastic and bifid ribs, demonstrating partial posterior fusion. Right renal agenesis was also noted in one child. TMCO1 mutation results in cerebro-facio-thoracic dysplasia (CFTD) due to abnormal calcium homeostasis. The transmembrane and coiled-coil domains 1 protein directs formation of endoplasmic reticulum calcium leak channels which facilitate calcium leak upon overload of the endoplasmic reticulum. Failure of calcium leak results in abnormal cell function resulting in delayed osteogenesis, reduced mitochondrial volume, reduced mitochondrial respiration, and decreased endoplasmic reticulum stress mediated apoptosis. These children have distinctive craniofacial dysmorphism, global developmental delay, and skeletal anomalies. Previous studies have demonstrated only mild ventriculomegaly, corpus callosum abnormalities, frontotemporal atrophy, and three cases of associated epilepsy. Olfactory bulb agenesis may be due to abnormal development of the cribriform plate of the ethmoid and failure of olfactory nerves to induce development of the olfactory bulb from the telencephalon. We demonstrate that TMCO1 may play a more extensive and previously undescribed role in neurodevelopment, specifically in the formation of the hippocampus, optic nerve, and pons. Read More
Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022
Authors: Ratnayake Charith, Subramanian Subramanian, Narayanan Srikala, Gaesser Jenna
An 11-year-old female presented with 3-weeks history of intractable vomiting, nausea, blurred vision, vertical nystagmus and ataxia with gait instability. A CT scan revealed a small calcification at the left craniocervical junction (CJJ) and mild effacement of the fourth ventricle (Figure). MRI showed a partially-enhancing medulla oblongata lesion and a non-enhancing cystic exophytic lesion abutting the left pre-medullary cistern. There was avid thick enhancement along the ventrolateral surface of the medulla oblongata. No restricted diffusion was present. MR spectroscopy demonstrated decreased NAA and elevated lactates. Based on imaging findings, a brainstem glioma with exophytic component was suspected. The CBC, CMP, ESR and CRP were normal. The patient underwent suboccipital craniectomy with C1 laminectomy, and an exophytic pale gray mass was identified. Multiple specimens were taken, and frozen diagnosis showed only necrosis. The cyst wall was resected. Resection of the brainstem component was limited by neurophysiology. Histologically, the lesion consisted of a fibrous cyst wall lined by columnar to pseudostratified columnar epithelium, findings reflecting a neuroenteric cyst. No glial tissue was identified. Gram stain and Grocott stain were negative for bacterial and fungal specimens. An empiric treatment with wide spectrum antibiotic was started. Follow-up MRI demonstrated near complete resolution of edema in the medulla oblongata, and substantial decrease in enhancement in anterolateral exophytic component and patient has substantially improved clinically. In retrospect, a sinus tract extended from the cystic lesion at the craniocervical junction into the brainstem causing edema, inflammation and enhancement which resolved once the cyst was surgically decompressed. <b>Conclusion</b>: This case shows a neuroenteric cyst connected to the brainstem, through a sinus tract leading to chronic inflammation and infection, resulting in imaging findings resembling a brainstem glioma. Surgical decompression of the cyst and antibiotic treatment resulted in resolution of the brainstem lesion. Read More
Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018
Authors: Ly Juan Domingo, Subramanian Subramanian, Rajan Deepa, Greene Stephanie, Zuccoli Giulio
Keywords: Neurenteric, magnetic resonance imaging MRI, glioma
Pediatric cervical spine trauma, although rare with an incidence of only 1-2%, can have very high morbidity and mortality. The leading causes are motor vehicle collision, sports related injury and child abuse in infants. The incidence of upper cervical spine injury is more common in children than adults due to differences in biomechanics, with the pediatric head size being proportionally larger when compared to adults. Although conventional radiographs remain the standard initial imaging evaluation, CT has become an important modality to detect bony injury and subtle signs of underlying ligamentous injury and hemorrhage (although consideration must be made for the increased radiation exposure). The presence of ligamentous injury, dens synchondrosis fracture, spinal cord evaluation, and spinal cord injury without radiographic abnormality (SCIWORA), meanwhile, are better evaluated with MRI. We will review the normal appearance of the pediatric cervical spine including normal measurements on radiographs and CT, including the importance of the basion-dens interval, powers ratio, and atlanto-occipital distance with illustrations. The normal development of the cervical spine as well as CT and MRI anatomy of cervical spine ligaments will be reviewed with illustrations. Imaging findings of atlanto-occipital and atlanto-axial distraction and pediatric cervical spine fractures including clay shoveler's fracture and dens synchondrosis fractures will be illustrated with CT and MRI. Finally, a review of clinical decision criteria for pediatric cervical spine trauma and imaging approach will be presented. The importance of obtaining MRI in children under 5 years and appropriate use of imaging will also be discussed. Image 1: Sagittal CT image demonstrates increased basion to dens distance and normal atlanto-dental interval, consistent with atlanto-occipital dissociation. Image 2: T2-weighted sagittal MR image demonstrates injuries to the tectorial and posterior atlanto-occipital membranes with atlanto-occipital dissociation. There is associated epidural hemorrhage. Image 3: Sagittal CT reconstruction demonstrates a powers ratio greater than 1, raising suspicion for anterior atlanto-occipital dissociation. Read More
Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018
Authors: Akbari Yasmin, Subramanian Subramanian, Furtado Andre, Panigrahy Ashok, Zuccoli Giulio
Ultrasound-MRI correlation of neonatal intracranial abnormalities: beyond germinal matrix hemorrhage
Transfontanelle cranial ultrasound is widely used in the neonatal setting to screen for abnormalities, particularly in the neonatal and cardiac intensive care unit settings. Radiologists and sonographers are typically very familiar with the ultrasound appearance of germinal matrix hemorrhage in premature infants. However, other abnormalities can also be very well seen sonographically, but may be underappreciated and therefore underreported. Under recognition may delay appropriate therapy these infants. The purpose of this educational review is to demonstrate the sonographic findings in a variety of neonatal intracranial abnormities including ischemia, hemorrhage, as well as developmental and anatomical anomalies, and to compare them with what may be the more familiar cross sectional appearance, including CT and MRI. Read More
Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017
Authors: Squires Judy, Zuccoli Giulio, Lynda Flom, Subramanian Subramanian, Panigrahy Ashok
Keywords: MRI, Ultrasound