Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type

Transient receptor potential vanilloid 4 channel (TRPV4) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs and urine incontinence for 1 year following falls. Physical examination showed below-average weight and height and short trunk. Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes. Skeletal survey showed platyspondyly with anterior beaking with metaphyseal dysplasia. Magnetic resonance imaging of the spine revealed atlantoaxial instability with hyperintense signal changes at a cervicomedullary junction and upper cervical cord with thinning and spinal canal stenosis suggestive of compressive myelopathy with platyspondyly and anterior beaking of the spine at cervical, thoracic and lumbar vertebrae. Exome sequencing revealed a heterozygous de novo variant c.2389G > A in exon 15 of TRPV4, which results in the amino acid substitution p.Glu797Lys in the encoded protein. The characteristics observed indicated spondylometaphyseal dysplasia, Kozlowski type (SMD-K). The child underwent surgical intervention for compressive myelopathy by reduction of atlantoaxial dislocation with C1 lateral mass and C2 pars fusion using rib graft and fixation using screws and rods. To conclude, for any child presenting with progressive kyphoscoliosis, short stature, platyspondyly, and metaphyseal changes, a diagnosis of SMD-K should be considered and the patient and family should be advised to avoid spinal injuries.

HARM revisited: Etiology of subarachnoid hyperintensities in brain FLAIR MRI

Background: The hyperintense acute reperfusion marker (HARM) describes a phenomenon with a hyperintense signal in the subarachnoid space in Fluid-Attenuated Inversion Recovery (FLAIR) magnetic resonance imaging (MRI) sequences, presumably based on blood–brain barrier breakdown in acute stroke with reperfusion. However, this imaging phenomenon was described in other medical conditions. Aim: Determination of the prevalence and associated clinical findings of this phenomenon in a large sample of patients with different neurological conditions. Methods: This is retrospective, single-center, observational study of 23,948 cerebral MRIs acquired in a Neurological University Clinic over 5 years. The prevalence of HARM, the underlying diagnosis, and damage pattern were examined by chart analysis; MRI was analyzed regarding the type of acute lesions, extent of microangiopathic lesions, and whether gadolinium-based contrast agent (GBCA) was given. Results: Among the MRI data, 84 images (0.35%) from 61 patients were HARM-positive without a subarachnoid signal abnormality in any other sequence. Etiologies were heterogeneous; 35 patients had a cerebrovascular disease (CVD; 19 patients received recanalization therapy), 12 patients had an inflammatory central nervous system (CNS) disease and 14 patients had epilepsy. GBCA was applied to 64% of the patients. Conclusion: HARM was a rare radiological finding in a range of different neurological pathologies, not limited to stroke, or to previous reperfusion therapy and was not dependent on previous GBCA administration. Our data suggest that the term is too narrow in terms of the concepts of the underlying pathology. We propose to use the term FLAIR Subarachnoid Hyperintensity (“FLASH”) phenomenon which might better reflect the observation that the radiological sign can be associated with a variety of central neurological conditions without a straightforward association with therapy.

Comparison of Dose and Effectiveness of a Single-Session Ultrasound-Guided High-Intensity Focused Ultrasound Ablation of Uterine Fibroids With Different Sizes

PurposeThis study aimed to compare the dose and effectiveness of ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation of uterine fibroids with different sizes and explore the effect of uterine fibroid size on dose, which provided dose evaluation for clinicians in accordance with the size of uterine fibroids.Materials and MethodsA total of 1,000 patients with symptomatic uterine fibroids who received a single-session USgHIFU treatment were enrolled in this study. The size of fibroids was divided into seven groups: 3–4 cm, 4–5 cm, 5–6 cm, 6–7 cm, 7–8 cm, 8–9 cm, and 9–11 cm. The dose was expressed on the basis of the energy efficiency factor (EEF) as the energy required for ablation per unit volume of tissue, and the non-perfused volume ratio (NPVR) was used to assess the effect of HIFU ablation.ResultsThe median NPVR of 88.3% (IQR: 80.3%–94.8%) was obtained, and no significant difference was observed among the seven groups. The classification of T2-weighted image signal intensity fibroids in the 4–5 cm group was compared with that in the 6–7 cm and 8–9 cm groups, and the difference was significant (p < 0.05). However, the proportion of T2WI hyperintense signal fibroids had no significant difference among the seven groups (p > 0.05). The median EEF was 3.88 J/mm3, and a significant difference was observed among the seven groups of EEF (p < 0.05). The EEF of groups with a fibroid size less than 6 cm was more than double the EEF of groups with a fibroid size above 6 cm. In addition, the EEF of groups with a fibroid size of 4–5 cm and 3–4 cm was 3–4 times higher than those with a fibroid size above 7 cm (p < 0.05).ConclusionsA single-session HIFU ablation for uterine fibroids of 3–11 cm can obtain an NPVR of more than 80%. The EEF decreased with the increase of the size of uterine fibroids. A fibroid size of 6.5 cm was considered as a clinical meaningful point affecting EEF.

Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma

Purpose Recent research identified histone H3 K27M mutations to be associated with a dismal prognosis in pediatric diffuse midline glioma (pDMG); however, data on detailed MRI characteristics with respect to H3 K27 mutation status and molecular subgroups (H3.1 and H3.3 K27M mutations) are limited. Methods Standardized magnetic resonance imaging (MRI) parameters and epidemiologic data of 68 pDMG patients (age <18 years) were retrospectively reviewed and compared in a) H3 K27M mutant versus H3 K27 wildtype (WT) tumors and b) H3.1 versus H3.3 K27M mutant tumors. Results Intracranial gliomas (n = 58) showed heterogeneous phenotypes with isointense to hyperintense signal in T2-weighted images and frequent contrast enhancement. Hemorrhage and necrosis may be present. Comparing H3 K27M mutant to WT tumors, there were significant differences in the following parameters: i) tumor localization (p = 0.001), ii) T2 signal intensity (p = 0.021), and iii) T1 signal homogeneity (p = 0.02). No significant imaging differences were found in any parameter between H3.1 and H3.3 K27M mutant tumors; however, H3.1 mutant tumors occurred at a younger age (p = 0.004). Considering spinal gliomas (n = 10) there were no significant imaging differences between the analyzed molecular groups. Conclusion With this study, we are the first to provide detailed MR imaging data on H3 K27M mutant pDMG with respect to molecular subgroup status in a large patient cohort. Our findings may support diagnosis and future targeted therapeutic trials of pDMG within the framework of the radiogenomics concept.

Imaging features of cartilaginous tumors of the head and neck

There is a wide spectrum of head and neck cartilaginous lesions which include both neoplastic and nonneoplastic processes. Cartilaginous tumors of the head and neck are uncommon, posing a diagnostic challenge. Benign cartilaginous tumors that may occur in the head and neck include chondroma, chondroblastoma, chondromyxoid fibroma, osteochondroma, and synovial chondromatosis. Chondromesenchymal hamartoma is a rare non-neoplastic cartilaginous lesion that is included for the 1first time in the new WHO classification and radiologically can mimic a tumor. Malignant cartilaginous tumors include chondrosarcoma and chondroid variant of chordoma. Characteristic tumor locations, internal chondroid matrix calcification, and typical T2 hyperintense signal secondary to high-water content within the extracellular matrix of the hyaline cartilage are useful imaging features that narrow the differential diagnosis and help in diagnosing these diseases. This article presents a narrative review of the anatomy of the head and neck cartilaginous structures, discusses the current knowledge and imaging spectrum of benign and malignant cartilaginous tumors and tumor-like lesions of the head and neck.

NI-7 Diffusion-weighted imaging for monitoring acute response and recurrence after photodynamic therapy in malignant gliomas

Background Photodynamic therapy (PDT) subsequent to surgical tumor removal is a novel light-activated localized treatment for malignant glioma. Although PDT provides effective local control, even PDT cannot completely suppress local recurrence of malignant glioma. We previously reported that the acute response of malignant glioma to PDT could be detected as linear hyperintense signals on diffusion-weighted imaging (DWI) and a decline in apparent diffusion coefficient (ADC) values that were asymptomatic and transient. However, their long-term clinical significance has not yet been examined. This study aimed to clarify the link between the hyperintense signal on DWI as an acute response and recurrence after PDT in malignant glioma. Methods Thirty consecutive patients (16 men, 14 women; median age 60.5 years) underwent PDT for malignant glioma at our institution between 2017 and 2020. We analyzed signal changes on DWI after PDT and the link between these findings and the recurrence pattern. Results In all patients, linear hyperintense signals of 5–7 mm on DWI were detected at the surface of the resected cavity from day 1 after PDT. These changes matched the PDT-irradiated area and disappeared in about 30 days without any neurological deterioration. Of the 30 patients, 19 (63%) exhibited recurrence: local recurrence in 10 (33%), distant recurrence in 1 (3%), and dissemination in 8 (27%). All local recurrences arose from areas that did not show a hyperintense signal on DWI obtained on day 1 after PDT. Patients with distant recurrence or dissemination tended to have uninterrupted hyperintense signal on DWI obtained on day 1 after PDT. Conclusion The local recurrence in malignant glioma after PDT occurred in the areas without hyperintense signal on DWI as the acute response to PDT. This characteristic finding could aid in the monitoring of not only PDT-irradiated area but also local recurrence site after PDT.

Intraventricular tuberculosis abscess in an immunocompromised patient: clinical vignette

Tuberculosis is caused by Mycobacterium tuberculosis. Tuberculosis of the central nervous system is common and manifestations include meningeal and intraparenchymal diseases. However, intraventricular tuberculous abscess is a rare manifestation of intracranial tuberculous infection. We present a case of an immunocompromised female patient with high-grade fever and signs of meningism. The computed tomography and magnetic resonance imaging (MRI) of the brain showed hydrocephalus with rim-enhancing lesion in the right lateral ventricle. The MRI demonstrated a hypointense signal on T1-weighted imaging, hyperintense signal on T2-weighted imaging, and mild restricted diffusion in diffusion-weighted imaging. She underwent emergency external ventricular drainage and frank pus was drained. Diagnosis of tuberculosis was made via polymerase chain reaction analysis and culture. Understanding the intracranial manifestation of neurotuberculosis is imperative to arrive at the diagnosis correctly and ensure prompt treatment.

Fatty disc: An unusual pattern of disc degeneration

The intervertebral disc is the fibrocartilaginous structure between the endplates of adjacent vertebral bodies, providing support and mobility to the spine. Normally, the disc is isointense on the T1 weighted image (T1WI) and hyperintense on the T2 weighted image (T2WI). Degenerating disc shows loss of hyperintensity on T2WI due to disc dehydration. The development of hyperintensity on T1WI in degenerating disc is unusual. Causes of discal hyperintensity on T1WI include calcification, hemorrhage, melanin, mucin, or fat within the disc. Fat contents in the disc may be rarely seen in degeneration and appear as hyperintense signal on T1WI and T2WI. We, hereby report a case of discal hyperintensity on T1WI and T2WI due to fatty degeneration of the disc.

Abstract 16925: Covid-19 Vaccine Associated Acute Myocarditis

Case Presentation: A 19 year old male presented with sudden onset chest pain radiating to back. He was a smoker and denied using cocaine since his last hospitalization for cocaine-induced myocardial infarction 2 years ago. UDS was negative. EKG showed normal sinus rhythm with no ST-T wave changes. Initial troponin was 0.850. Potassium levels were low at 2.9 mmol/L but other labs were normal. Chest CT angiography ruled out aortic dissection. He was started on heparin drip. Stat Echocardiogram showed LVEF of 55-60% with no wall motion abnormalities. Repeat potassium levels normalized after replacement, however, his troponins were trending up from 3.9 and 11.5. He continued to complain of severe chest pain, so underwent cardiac catheterization which showed normal coronary arteries and LVEF 55-60%. Heparin drip was discontinued and NSAIDs and colchicine were started. Cardiac MRI (see Figure) was done that showed patchy mid-wall and epicardial delayed gadolinium enhancement involving the basal inferolateral wall, with mild hyperintense signal on the triple IR sequence, suggestive of myocarditis. On further probing, he reported receiving a second dose of Moderna COVID vaccine 3 days prior to presentation. Discussion: In December 2019, a novel RNA virus causing COVID-19 infection was reported, which quickly reached a pandemic level. COVID-19 vaccines were granted emergency use authorization by FDA. With millions of people receiving COVID-19 vaccinations worldwide, rare adverse effects are now being reported. The benefits of vaccination undoubtedly outweigh any minor side effects. However major adverse effects like this are potentially fatal. This case report warrants further investigation into the association of myocarditis with COVID-19 vaccinations and further recommendations regarding vaccination in younger adults.

Rapid-Onset Hemibody Sensory Loss, Incoordination, and Muscle Jerking

A 61-year-old woman with no pertinent medical history had progressive decline in multiple neurologic domains over the course of 2 months. She had development of progressive sensory loss in her left foot that subsequently spread up the left lower extremity and into the left upper extremity; accompanied by a sense of unsteadiness. Later, jerky movements of the left leg occurred while she was lying supine and sometimes when walking. At times, her left hand would wander involuntarily. Later in the course of her symptoms, mild short-term memory loss was also noted. On examination, she was unable to recall her home address, but findings were otherwise normal. She had mild gaze-evoked nystagmus and significant saccadic intrusion of smooth pursuits. A mild upper motor pattern of weakness, action myoclonus, hyperreflexia, and moderate loss of vibration was present on the left. Gait was markedly ataxic. Repeated magnetic resonance imaging of the brain 2 months after illness onset showed right parietal cortical hyperintense signal on diffusion-weighted imaging consistent with cortical ribboning, a common diagnostic finding early in the course of prion disease. Although characteristic of prion disease, similar imaging findings have been reported in autoimmune encephalitis and in the postictal setting. However, the putamen and caudate nucleus also demonstrated subtle asymmetric diffusion-weighted imaging hyperintense signal, which in the clinicoradiologic context is highly specific for prion disease. Electroencephalography showed frequent sharp wave discharges over right posterior temporal and left occipital head regions, along with frontal intermittent rhythmic delta slowing, consistent with encephalopathy (not otherwise specified). Real-time quaking-induced conversion testing of cerebrospinal fluid was positive for misfolded prion proteins. The positive real-time quaking-induced conversion result confirmed a diagnosis of sporadic Creutzfeldt-Jakob disease. The patient’s treatment was palliative. Hospice services implemented a home palliation program. Clonazepam was prescribed to reduce myoclonus. The patient died 18 weeks after onset of her neurologic symptoms. The differential diagnosis of a rapidly progressive multifocal neurologic syndrome includes many considerations but can be focused in complex situations by first confirming lesion localization and characterization with neuroimaging or other objective studies (eg, electromyography).