Showing 3 Abstracts.
The purpose of our case series is to review the imaging, clinical, and pathologic findings of two adolescent patients that presented to our medical center who were ultimately found to have the juvenile/young adult (Prust Type II) form of Alexander Disease. The first patient was an eleven year old male with presumed conversion disorder who was transferred from a pediatric residental mental health clinic after a suspected aspiration event. The parents reported that the patient had difficulty swallowing for years, that had worsening significantly over the preceding six months. A non-enhanced head CT was performed shortly after the patient was admitted due to a change in mental status, which revealed a focal abnormality at the cervicomedullary junction. Subsequent assessment with MRI confirmed the lesion, which demonstrated corresponding T2/FLAIR signal hyperintensity and enhancement, with the presumptive initial diagnosis of a cervicomedullary tumor. The patient was biopsied at an outside institution, and was diagnosed with Alexander Disease by that institution. The second patient was a twelve year old male with history of cleidocranial dysplasia, in which extensive signal abnormality and enhancement was first identified throughout the posterior fossa structures on an outpatient MRI of brain obtained for paroxysmal episodes of dizziness. A small amount of signal abnormality in the periventricular white matter was also present. The patient was initially worked up and treated for a neuroinflammatory disorder, and a biopsy was performed when there was further worsening of the patient’s symptoms. A mutation in the patient's GFAP gene was subsequently identified of “uncertain significance”. Juvenile/young adult (Prust Type II) Alexander Disease is a rare leukodystrophy, which is associated with a different set of imaging characteristics compared with the more classic infantile/juvenile (Prust Type I) form. Radiologists who regularly interpret pediatric neuroimaging studies should be aware of its existence and its spectrum of associated imaging findings, in the interest of both arriving at the correct diagnosis and in avoiding unnecessary brain biopsy. Read More
Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022
Authors: Vorona Gregory, Mahdi Eman, Ritter Ann, Henry Chrisopher, Rao Sanjai, Richard Hope, Urbine Jacqueline
Keywords: Alexander, leukodystrophy
Brain hypoxic-ischemic injury (HII) is a devastating injury that results in death or profound long-term neurologic disability in both children and adults. Treatment is mostly supportive, including hypothermia and administration of excitatory amino acid antagonists, with a limited window of effectiveness (as little as 6 hours), making early detection of injury critically important. Neuroimaging with Ultrasound, CT, and MRI has become increasingly valuable in the work-up of patients with HII. In this educational exhibit we will: a) review the pathophysiologic features and factors that influence the pattern of injury, b) discuss the specific imaging patterns in preterm and term neonates, c) review the imaging approach and highlight the role of advanced MRI techniques such as MR spectroscopy, DWI/ADC, and ASL perfusion in the evaluation process. Finally, we will briefly elaborate on the therapeutic hypothermia in HII, and the influence on imaging findings. Read More
Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024
Authors: Aviado Randy, Clark Keaira, Mahdi Eman, Nada Ayman, Mishra Chakradhar, Jones Kathryn, Urbine Jacqueline, Vorona Gregory
The spectrum of imaging findings associated with intracranial germ cell tumors extends well beyond the typical suprasellar and/or pineal region masses. It is imperative that radiologists who interpret pediatric neuroimaging studies be familiar with the range of imaging findings associated with intracranial germ cell tumors, particularly as the appropriate suggestion of germ cell tumor as a diagnosis can have a significant impact on the initial surgical plan. In our case series we will review the typical imaging (CT and MRI) findings of both germinoma and nongerminomatous germ cell tumors, including metastasis and local invasion/extension. We will also review how intracranial germ cell tumors can be multifocal and how they can involve unusual areas such as the basal ganglia, cerebellum, and septal leaflets. MR spectroscopic findings associated with pediatric intracranial germ cell tumors will also be reviewed, including how these findings can be very helpful to differentiate from other similar-appearing pathologies. Finally, we will briefly discuss the treatment and prognosis of intracranial germ cell tumors. Read More
Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023
Authors: Aviado Randy, Vorona Gregory, Tye Gary, Ritter Ann, Wang Zhihong, Mahdi Eman, Mishra Chakradhar, Jones Kathryn, Urbine Jacqueline
Keywords: Germ cell tumor, germinoma, teratoma