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

Fanconi anemia (FA) is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, physical abnormalities, and a heightened cancer risk. A severe neurological complication, Fanconi anemia neuroinflammatory syndrome (FANS), involves progressive neuroinflammation and brain lesions, resulting in cognitive and motor impairments. We present the case of a 12-year-old male with FANS and its neuroimaging findings over an 8-year period. The patient, with a history of stem cell transplant and graft-versus-host disease, initially presented with developmental delays at age 10, progressing to slurred speech and diplopia by age 12. Serial brain MRIs from 2016 to 2024 revealed the evolving features of FANS, but initially posed significant diagnostic challenges due to the rarity of this entity. Key imaging findings included multiple scattered foci of abnormal T2/FLAIR hyperintensity and enhancement throughout the brain, progressing to numerous ring-enhancing lesions with associated calcifications. Late-stage imaging showed large destructive lesions with significant mass effect, including a 3.6 cm rim-enhancing lesion causing 1.2 cm midline shift and ventricular entrapment. Early radiological differentials included infection, neurological manifestations of chronic graft-versus-host disease, cerebrovascular disease, and even aggressive brain tumors. Biopsy revealed necro-inflammation, with tumor analysis identifying a significant ESR1/CCDC170 gene variant. The clinical course was marked by relentless progression including cognitive decline, weakness, imbalance, and seizures. Multiple immunosuppressive therapies were attempted with limited success. This case emphasizes the importance of recognizing FANS imaging patterns, which progress from small enhancing lesions to large, destructive ones. The distinctive imaging features, combined with a history of Fanconi anemia, should prompt consideration of FANS in the differential diagnosis, even when other causes may seem more likely. Awareness of FANS as a complication in Fanconi anemia patients is crucial for timely diagnosis and management. Emphasis needs to be placed on researching effective treatments, as current options have limited success in halting progression. Recognizing FANS is essential to prevent unnecessary and harmful treatments for misdiagnosed conditions. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Martinez-sicari Jorge, Shahid Mehreen, Mahdi Eman, Canissario Ryan, Richard Hope, Sisler India, Jones Kathryn, Mishra Chakradhar, Vorona Gregory

Keywords: Genetics, Brain, Inflammation

In our case series, we highlight the imaging findings of two patients with rare “neuroblastoma” tumors in which the diagnosis was not considered preoperatively, emphasizing the importance of pediatric radiologists being aware of these unusual etiologies for accurate diagnosis and management. A 17-year-old with blurry vision presented with progressive visual deterioration. MRI revealed a 5.5 cm mass in the inferior left frontal lobe, impacting the prechiasmatic optic nerve and optic chiasm. A CTA confirmed the lesion's encasement of the circle of Willis's left aspect. The patient underwent a craniotomy for tumor resection, revealing a primary CNS neuroblastoma FOXR2-activated, WHO grade 4. Another patient, a 13-year-old female, reported vomiting, abdominal pain, and diarrhea. The past medical history included Lyme disease and "cat scratch" fever. Severe hyponatremia was discovered, initially attributed to viral sequelae, necessitating prolonged hospitalization. An incidental nasal cavity/maxillary sinus "polyp" was identified and excised, diagnosed as olfactory neuroblastoma (Esthesioneuroblastoma), Hyam grade 3, Kadish stage 2. Post multiple surgeries and radiation, the hyponatremia, a result of SIADH, resolved with tumor treatment. Neuroblastomas, typically arising from the adrenal gland or retroperitoneum, are the most common extracranial solid pediatric tumors. They are usually sporadic, but sometimes associated with specific syndromes. Primary intracranial neuroblastomas are rare, with ambiguous classification and no distinct imaging characteristics or established adjuvant treatment protocols, contributing to high recurrence rates. CNS neuroblastomas more commonly affect the spine, with intracranial instances being rare but important differential diagnoses for pediatric brain tumors. Similarly, esthesioneuroblastomas, originating from olfactory neuroepithelial cells, are rare, constituting only 0.6% of all upper aerodigestive tract tumors. Ectopic cases are even rarer, with some inducing paraneoplastic syndromes like ectopic Cushing’s or SIADH. Particularly, esthesioneuroblastomas with SIADH-related euvolemic hyponatremia have a mere 2% prevalence and should be considered in atypical/refractory hyponatremia cases with incidental sinus masses. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Blundo Gianna, Jones Kathryn, Mishra Chakradhar, Vorona Gregory, Hinh Lylie, Mahdi Eman, Wang Zhihong, Tye Gary, Ritter Ann, Petersson Rajanya, Richard Hope, Al-samarraie Mohannad

Keywords: neuroblastoma, enthesioneuroblastoma