T2 Signal Hyperintensity Research Articles

NCMP-21. REVERSIBLE MOTOR NEURON SYNDROME IN THE SETTING OF CANCER

Abstract 60 year old female was admitted with difficulty swallowing, slurred speech and gait instability resulting in multiple falls worsening over 2-3 weeks. Her exam revealed subtle spastic dysarthric speech, spasticity in all four extremities (lower > upper and right > left), hyperreflexia, and bilateral Babinksi and Hoffman signs consistent with pure upper motor neuron syndrome. An MRI brain and total spine were without evidence of neurological pathology but revealed an incidental finding of lymphadenopathy concerning for neoplastic process. Her symptoms continued to worsen over the next few weeks and she developed severe, nearly continuous, extensor spasms of BLE (right > left) with stimulus sensitivity causing inability to walk. She was started on baclofen, tizanidine and diazepam for spasticity with only mild improvement. An MRI cervical spine was repeated (please see below) and revealed hyperintense T2 signal in lateral corticospinal tract (right > left) without enhancement and no cord compression. Given strong clinical concern for paraneoplastic process patient received 0.4 g/kg IVIG for 5 days and concurrent 1000 mg methylprednisolone for 3 days with dramatic improvement within days. Cervical lymph node biopsy lead to diagnosis of nodal marginal zone lymphoma. A CT abdomen revealed an ovarian mass concerning for teratoma vs dermoid cyst (pending resection and final pathology). She was treated with weekly boosters of IVIG and IV methylprednisolone and was started on Rituximab for her Lymphoma. When seen in clinic a month post discharge nearly all of her symptoms had resolved. Neurological exam showed subtle residual spasticity making this presentation most consistent with a reversible pure upper motor neuron syndrome.

Post-Herpetic Brachial Plexopathy: A Rare Case Report With a Side Note on Localizing Brachial Plexopathies and a Literature Review of Post-Herpetic Segmental Paresis

We present the case of a 77-year-old man who developed shingles over the cervical C8 dermatome followed by post-herpetic medial cord brachial plexopathy, with hand weakness and difficulty performing the pinch " O " sign. This is the very first case, to our knowledge, of a detailed presentation of a medial cord plexopathy following shingles. We review the literature of post-herpetic brachial plexopathies and discuss the magnetic resonance imaging (MRI) findings of the brachial plexus in this group of patients. We also speculate on the intriguing finding that despite frequent abnormalities on MRI such as T2 signal hyperintensity and nerve hypertrophy, contrast enhancement of nerves is exceedingly rare. Furthermore, we adumbrate on the localization of brachial plexus lesions by proposing a user-friendly diagram and table, which simplifies the diagnostic algorithm.

Adrenal Ganglioneuroma

Adrenal ganglioneuromas are rare sympathetic differentiated tumors which originate from neural crest cells. These lesions are usually discovered incidentally on imaging and tend to be hormonally silent. Preoperative diagnosis of adrenal ganglioneuroma remains extremely challenging and the gold standard treatment is adrenalectomy. There is good prognosis after surgery without recurrence. We herein report a case of adrenal ganglioneuroma in a 15 year old female who presented with complaint of abdominal discomfort. Contrast Enhanced Computed Tomography abdomen showed a large septated hypodense right suprarenal mass which was echogenic on Ultrasonography. It showed T1 hypointense and T2 hyperintense signal on Magnetic Resonance Imaging of abdomen and pelvis. Excisional biopsy and histological examination of the mass was suggestive of adrenal ganglioneuroma. This report presents the clinical and radiological data for the rare tumor which would share some experience to facililate the diagnosis of adrenal ganglioneuroma.

Olfactory Bulb Signal Abnormality in Patients with COVID-19 Who Present with Neurologic Symptoms.

Unique among the acute neurologic manifestations of Severe Acute Respiratory Syndrome coronavirus 2, the virus responsible for the coronavirus disease 2019 (COVID-19) pandemic, is chemosensory dysfunction (anosmia or dysgeusia), which can be seen in patients who are otherwise oligosymptomatic or even asymptomatic. The purpose of this study was to determine if there is imaging evidence of olfactory apparatus pathology in patients with COVID-19 and neurologic symptoms. A retrospective case-control study compared the olfactory bulb and olfactory tract signal intensity on thin-section T2WI and postcontrast 3D T2 FLAIR images in patients with COVID-19 and neurologic symptoms, and age-matched controls imaged for olfactory dysfunction. There was a significant difference in normalized olfactory bulb T2 FLAIR signal intensity between the patients with COVID-19 and the controls with anosmia (P = .003). Four of 12 patients with COVID-19 demonstrated intraneural T2 signal hyperintensity on postcontrast 3D T2 FLAIR compared with none of the 12 patients among the controls with anosmia (P = .028). Olfactory bulb 3D T2 FLAIR signal intensity was greater in the patients with COVID-19 and neurologic symptoms compared with an age-matched control group with olfactory dysfunction, and this was qualitatively apparent in 4 of 12 patients with COVID-19. Analysis of these preliminary finding suggests that olfactory apparatus vulnerability to COVID-19 might be supported on conventional neuroimaging and may serve as a noninvasive biomarker of infection.

Imaging features of chondrosarcoma of the temporomandibular joint: report of nine cases and literature review

To investigate the imaging features of chondrosarcoma of the temporomandibular joint (TMJ) and review the literature. Computed tomography (CT), magnetic resonance imaging (MRI), and integrated positron-emission tomography (PET)/CT images of nine patients with histopathologically confirmed chondrosarcoma of the TMJ were reviewed retrospectively. Imaging features regarding the direction of lesion growth, bone destruction, infiltration into the tendon of the lateral pterygoid muscle (LPM) in the pterygoid fovea, enhancement pattern, calcification, periosteal reaction, markedly hyperintense T2 signal area, and qualitative PET signal intensity were evaluated. Seven of nine patients (77.8%) presented with lesion growth that was outward from the medulla of the mandibular condyle. Infiltration into the tendon of LPM in the pterygoid fovea was observed in all cases, and 77.8% (7/9) of them demonstrated >50% infiltration. All the lesions showed a mixed peripheral and internal enhancement, and revealed a markedly hyperintense T2 signal intensity area, which showed no enhancement. Although five of nine cases demonstrated higher FDG uptake compared with that of the liver, the other four cases showed less FDG uptake than that of the liver. Chondrosarcoma of the TMJ demonstrated several imaging features, including outward growth from the mandibular condyle, resultant infiltration into the tendon of LPM in the pterygoid fovea, various patterns of internal enhancement, and a markedly hyperintense T2 signal intensity area. These imaging features may be helpful to differentiate chondrosarcoma from other lesions of the TMJ.

Extent of Hyperostotic Bone Resection in Convexity Meningioma to Achieve Pathologically Free Margins.

ObjectiveHyperostosis in meningiomas can be present in 4.5% to 44% of cases. Radical resection should include aggressive removal of invaded bone. It is not clear however to what extent bone removal should be carried to achieve pathologically free margins, especially that in many cases, there is a T2 hyperintense signal that extends beyond the hyperostotic bone. In this study we try to investigate the perimeter of tumour cells outside the visible nidus of hyperostotic bone and to what extent they are present outside this nidus. This would serve as an initial step for setting guidelines on dealing with hyperostosis in meningioma surgery. MethodsThis is a prospective case series that included 14 patients with convexity meningiomas and hyperostosis during the period from March 2017 to August 2018 in two university hospitals. Patients demographics, clinical, imaging characteristics, intraoperative and postoperative data were collected and analysed. In all cases, all visible abnormal bone was excised bearing in mind to also include the hyperintense diploe in magnetic resonance imaging (MRI) T2 weighted images after careful preoperative assessment. To examine bony tumour invasion, five marked bone biopsies were taken from the craniotomy flap for histopathological examinations. These include one from the centre of hyperostotic nidus and the other four from the corners at a 2-cm distance from the margin of the nidus. ResultsOur study included five males (35.7%) and nine females (64.3%) with a mean age of 43.75 years (33-55). Tumor site was parietal in seven cases (50%), fronto-parietal in three cases (21.4%), parieto-occipital in two cases (14.2%), frontal region in one case and bicoronal (midline) in one case. Tumour pathology revealed a World Health Organization (WHO) grade I in seven cases (50%), atypical meningioma (WHO II) in five cases (35.7%) and anaplastic meningioma (WHO III) in two cases (14.2%). In all grade I and II meningiomas, bone biopsies harvested from the nidus revealed infiltration with tumour cells while all other bone biopsies from the four corners (2 cm from nidus) were free. In cases of anaplastic meningiomas, all five biopsies were positive for tumour cells. ConclusionRemoval of the gross epicentre of hyperostotic bone with the surrounding 2 cm is adequate to ensure radical excision and free bone margins in grade I and II meningiomas. Hyperintense signal change in MRI T2 weighted images, even beyond visible hypersototic areas, doesn’t necessarily represent tumour invasion.

A Puzzling Exam: Kernohan’s Notch Reimaged

•We provide a visual image of the consequeces of massive brainstem shift with oculomotor and peduncle injury.•Acute space occupying lesions may cause ipsilateral hemiparesis – and can be a false localizing sign. Conventional teaching on the neurologic examination suggests findings can be attributed to specific regions – which improves timely diagnosis and treatment, particularly in life threatening situations. Rarely, puzzling patient presentations can wrongly lead to false localization. A 36-year-old man was found comatose. Head CT demonstrated an acute right convexity subdural hematoma, causing a nearly 2 cm midline shift. Initial neurologic examination was confounded by paralytic agents; however, there was a dilated-light fixed right pupil. The patient was taken for a right hemicraniectomy and hematoma evacuation (Fig. 1). Post-operative examination demonstrated right-sided oculomotor palsy and hemiplegia with preserved left-sided strength—consistent with a false localizing sign. An MRI on POD#1 revealed abnormal T2-signal hyperintensity involving the left anterolateral midbrain and cerebral peduncle, indicative of compression of the contralateral crus cerebri against the contralateral tentorial incisura (“notch”). The descending corticospinal tracts travel from the motor cortex through the ipsilateral crus cerebri into the inferior brainstem where they decussate-transmitting motor stimuli to the contralateral hemibody. Correspondingly, right-sided lesions above the decussation produce left-sided deficits. In the present case, the expected deficits would have been in the left hemibody. However, in rare circumstances involving a significant midline shift the contralateral peduncle is injured via compression at the tentorium. The oculomotor at the same side of the hematoma is as expected and either caused by strech of the nerve or direct compression of the uncus. This false localizing sign has been honored by the eponym "Kernohans Notch"..[[1]Kernohan J.W. Woltman H.W. Incisura of the crus due to contralateral brain tumor.Arch NeurPsych. 1929; 21: 274-287https://doi.org/10.1001/archneurpsyc.1929.02210200030004Crossref Scopus (117) Google Scholar] More deserving of the distinction is Groeneveld [[2]Dammers R Volovci V and Kompanje EJOThe History of the Kernohan Notch Revisited.Neurosurgery. 2016; 78: 581-584https://doi.org/10.1227/NEU.0000000000001097Crossref PubMed Scopus (0) Google Scholar] and Schaltenbrand who explained the injury as a knife-like stab (“Messerähnlichen Wirkung”) from the tentorium and possibly petrosal bone. There is a fascination with the Kernohan's notch phenomenon as evidenced by an ongoing flurry of case reports in the literature. Our patient clearly visualizes what has previously only been described in text and provides better proof of its existance. Picture Quiz: A 36 year-old male found down is noted on neurologic examination to have right hemiplegia and right oculomotor nerve palsy, with intact left upper and lower extremity function. Based on the exam, what is the most likely level of the lesion? A. Left motor cortex B. Right basal ganglia C. Left cerebral peduncle D. Right upper medulla Answer on page 336. LPC, AP, RCP, PCR, JLF, and EFW all provided substantial direct medical or surgical care pertaining to the diagnosis and treatment of the patient; LPC, AP, and CSG gathered the data and wrote manuscript/created the figure, PJR obtained formal patient consent and edited the manuscript, JLF and EFW supervised the project and made final manuscript editorial edits and approvals. None. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. A Puzzling Exam: Kernohan’s Notch ReimagedJournal of Clinical NeuroscienceVol. 80PreviewThe Answer is: C. Left cerebral peduncle. Full-Text PDF

Multiple sclerosis with intractable vomiting and atypical area postrema lesion

BackgroundArea postrema syndrome is considered as one of the most typical presentations of neuromyelitis optica spectrum disorders (NMOSDs) (Wingerchuk et al., 2015). The involvement of area postrema is rarely seen in multiple sclerosis (MS). We are here report a case of a young woman with multiple sclerosis, presented with intractable vomiting, and her MRI brain showed acute T2 hyperintense signal over the area postrema. Case presentationA 36-year-old Asian woman who is known to have schizophrenia and multiple sclerosis since 2012. She was noted to have spastic gait, and the MRI brain in 2012 showed multiple perpendicular periventricular T2 lesions suggestive of multiple sclerosis (MS). However, she defaulted her neurologist follow-up and was not on any treatment for MS. She was admitted in 2016 with intractable vomiting, and her MRI brain showed T2 hyperintense signal over area postrema with focal contrast enhancement. Her MRI cervical spine was normal. The visual evoked potential study showed bilateral prolonged P100 latencies. Oligoclonal bands were detected in her CSF analysis. Both the serum aquaporin-4 IgG (AQP4 IgGs) antibody and myelin oligodendrocyte glycoprotein (MOG-IgGs) were negative. Her intractable vomiting resolved after a short course of intravenous methylprednisolone. She was treated as MS with interferon-beta 1a. She has been in remission since 2016, and her functional status also improved from the expanded disability status scale (EDSS) of 2.0 (in 2016) to 1.0 (in 2020). ConclusionWe proposed that although area postrema lesion is typically seen in NMOSDs, it may also be seen in MS. Current MRI criteria for MS and NMOSDs are not sufficiently specific, and the diagnostic criteria should only be used in the appropriate clinical context.

Pituitary apoplexy induced by gonadotropin-releasing hormone agonist administration: a rare complication of prostate cancer treatment.

SummaryGonadotropin-releasing hormone (GnRH) agonists, currently used in the treatment of advanced prostate cancer, have been described as a rare cause of pituitary apoplexy, a potentially life-threatening clinical condition. We report the case of a 69-year-old man with a known pituitary macroadenoma who was diagnosed with prostate cancer and started treatment with GnRH agonist leuprorelin (other hormones were not tested before treatment). Few minutes after drug administration, the patient presented with acute-onset severe headache, followed by left eye ptosis, diplopia and vomiting. Pituitary MRI revealed tumor enlargement and T1-hyperintense signal, compatible with recent bleeding sellar content. Laboratory endocrine workup was significant for low total testosterone. The patient was managed conservatively with high-dose steroids, and symptoms significantly improved. This case describes a rare phenomenon, pituitary apoplexy induced by GnRH agonist. We review the literature regarding this condition: the pathophysiological mechanism involved is not clearly established and several hypotheses have been proposed. Although uncommon, healthcare professionals and patients should be aware of this complication and recognize the signs, preventing a delay in diagnosis and treatment.Learning points:Pituitary apoplexy (PA) is a potentially life-threatening complication that can be caused by gonadotropin-releasing hormone agonist (GnRHa) administration for the treatment of advanced prostate cancer.This complication is rare but should be taken into account when using GnRHa, particularly in the setting of a known pre-existing pituitary adenoma.PA presents with classic clinical signs and symptoms that should be promptly recognized.Patients should be instructed to seek medical care if suspicious symptoms occur.Healthcare professionals should be aware of this complication, enabling its early recognition, adequate treatment and favorable outcome.

MON-239 Pituitary Apoplexy Induced by Gonadotropin-Releasing Hormone Agonist Administration: A Rare Complication of Prostate Cancer Treatment

Background: Pituitary apoplexy is a potentially life-threatening clinical condition associated with bleeding and/or infarction into the pituitary gland, usually within a tumor. Gonadotropin-releasing hormone (GnRH) agonists, currently used in the treatment of advanced prostate cancer, have been described in the literature as a rare cause of pituitary apoplexy. Case: We report the case of a 69 year-old man with a known pituitary macroadenoma incidentally detected in 2016, without further investigation. He was diagnosed with prostate cancer in 2017 and underwent retropubic prostatectomy. Two years later there was evidence of histologic prostate tumor progression, so he started treatment with leuprorelin 45mg (GnRH agonist). Immediately after the first subcutaneous injection he presented with acute-onset severe headache, followed by left eye ptosis, diplopia and vomiting. Left cranial nerve III palsy was confirmed by examination in the emergency department. Head computed tomography showed a lesion in the sellar region; laboratory endocrine workup was significant for total testosterone 72.07 ng/dL (86.49 – 788.22), with no other abnormalities. Magnetic resonance imaging of the pituitary revealed tumor enlargement and a T1-hyperintense signal, compatible with recent haemorrhagic sellar content. The patient was managed conservatively with high dose steroids, and symptoms were significantly improved on discharge. Discussion: Pituitary apoplexy induced by GnRH agonist administration is a rare complication, described in only 20 documented cases to date. The pathophysiologic mechanism involved is not clearly established and several hypotheses have been proposed: a combination of metabolic hyperactivity, cell division/tumor growth and increased intrasellar pressure, inducing ischemia in a poorly perfused adenomatous tissue given the demand. Although uncommon, healthcare professionals should be aware of this serious consequence of GnRH agonist administration and recognize the signs, preventing a delay in diagnosis and treatment.

SUN-280 A Brute of a Case: Pituitary Apoplexy in a Patient Treated for Chronic Lymphocytic Leukemia with Ibrutinib

Background- Patients treated for chronic lymphocytic leukemia are frequently administered ibrutinib. Ibrutinib inhibits Bruton’s tyrosine kinase, blocks the B-cell receptor signaling pathway, thereby reducing downstream effects such as proliferation; effectively treating the malignancy. Adverse events such as bleeding have been reported and are suspected to be caused by inhibition of kinases in the platelet aggregation pathway. Clinical Case- A 60-year-old man with chronic lymphocytic leukemia, treated with ibrutinib for five months, was diagnosed with pituitary apoplexy and consequent panhypopituitarism. He presented with a severe headache one month prior to diagnosis. At this time, a non-contrast head CT was interpreted as unremarkable. On second presentation one month later, studies showed a serum sodium of 116 mmol/L (135-145 mmol/L), glucose of 43 mg/dL (65-179 mg/dL), and blood pressure of 95/52. An MRI brain demonstrated an enlarged pituitary with areas of intrinsic T1 hyperintense signal noted within the sella turcica suggestive of blood products. Serum cortisol rose from 0.3 to 8.9 ug/dL (4.5-22.7 ug/dL) one hour after IV injection of 250 mcg cosyntropin. Paired ACTH was < 5 pg/mL (7.2-63 pg/mL). Hydrocortisone was started and blood pressure, sodium, and glucose normalized. LH was 0.9 mIU/mL (3-10 mIU/mL), FSH was 4.7 mIU/mL (1.6-9.7 mIU/mL), and total testosterone was < 0.7 ng/dL (240-950 ng/dL). TSH was 0.115 uIU/mL (0.6-3-3 uIU/mL) with FT4 of 0.84 ng/dL (0.71-1.4 ng/dL). Prolactin was 2.4 ng/mL (4-18 ng/mL) and IGF-1 Z score was -1.28 (-2.0-2.0). Replacement levothyroxine and testosterone were started. Oncology stopped ibrutinib and switched therapy to rituximab and venetoclax. A pituitary MRI two months later showed significant improvement of the T1 hyperintensity (blood products) and a 1.1 cm adenoma was found. During the entire course of his illness his platelet counts ranged from 275 to 431 109/L (150-440 109/L). His INR was 1.14 and PT 13.2 sec (10.2-13.2 sec). He has recovered well on hormone replacement. Discussion- Pituitary apoplexy often has underlying risk factors, including pituitary adenomas and coagulopathies. To our knowledge apoplexy has not been reported in patients taking ibrutinib, though bleeding and platelet dysfunction have been well described. Knowledge of the possible side effects of newer anti-cancer drugs is increasingly important for the endocrinologist.

Association of MRI T2 Signal Intensity With Desmoid Tumor Progression During Active Observation: A Retrospective Cohort Study.

The aim of this study was to identify predictors of desmoid progression during observation. Untreated desmoids can grow, remain stable, or regress, but reliable predictors of behavior have not been identified. Primary or recurrent desmoid patients were identified retrospectively from an institutional database. In those managed with active observation who underwent serial magnetic resonance imaging (MRIs) with T2-weighted sequences, baseline tumor size was recorded, and 2 radiologists independently estimated the percentage of tumor volume showing hyperintense T2 signal at baseline. Associations of clinical or radiographic characteristics with progression-free survival (PFS; by RECIST) were evaluated by Cox regression and Kaplan-Meier statistics. Among 160 patients with desmoids, 72 were managed with observation, and 37 of these had serial MRI available for review. Among these 37 patients, median age was 35 years and median tumor size was 4.7 cm; all tumors were extra-abdominal (41% in abdominal wall). Although PFS was not associated with size, site, or age, it was strongly associated with hyperintense T2 signal in ≥90% versus <90% of baseline tumor volume (as defined by the "test" radiologist; hazard ratio = 11.3, P = 0.003). For patients in the ≥90% group (n = 20), 1-year PFS was 55%, compared with 94% in the <90% group (n = 17). The percentage of baseline tumor volume with hyperintense T2 signal defined by a validation radiologist correlated with results of the test radiologist (ρ = 0.75). The percent tumor volume characterized by hyperintense T2 signal is associated with desmoid progression during observation and may help distinguish patients who would benefit from early intervention from those who may be reliably observed.

Acute Cerebellitis or Postinfectious Cerebellar Ataxia? Clinical and Imaging Features in Acute Cerebellitis.

Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There were 10 boys and 5 girls aged 3-15 years, median 9.5 years. The most common first symptoms were ataxia, vomiting, and headache. Magnetic resonance imaging (MRI) generally showed bilateral symmetrical T2 hyperintense changes with moderate swelling in the cerebellar cortex. Tonsillar herniation was present in 73.3% and obstructive hydrocephalus in 26.6%. Etiologic workup for infectious pathogens revealed Mycoplasma pneumoniae, influenza A virus, cytomegalovirus, and varicella zoster virus in 1 case each. Fourteen of 15 patients were treated with intravenous and/or oral steroids and 8 cases with intravenous immunoglobulin. No patient required surgical decompression. Neurologic examination median 12 months later revealed ataxia and dysmetria in 4 cases (27%), accompanied by memory difficulties, dysarthria or tremor. Follow-up magnetic resonance imaging (MRI; n = 12) showed diffuse cerebellar cortical T2-hyperintense signal changes in 11 cases and cerebellar atrophy in 9. The diagnosis of acute cerebellitis rather than acute postinfectious cerebellar ataxia should be considered when headache and vomiting accompany ataxia in a child. Acute cerebellitis heals with sequelae in about one-third of cases. The absence of fatalities in our series suggests early diagnosis, and steroid treatment can increase the chance of recovery. MRI results were not found to be predictive of outcome.

Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

With interest we read the report by Patel et al.1 concerning a patient with Jacobsen syndrome due to an 11q23–11q24 deletion and MRI evidence for leukodystrophy with improvement at a follow-up, substantiated by FLAIR images. The authors claimed that these abnormalities represent hypomyelination. Hypomyelination is defined as a significant and permanent myelin deficit.2 Its MRI appearance is characterized by a diffusely hyperintense T2 white matter (WM) signal, which is less high than the signal in other leukodystrophies2,3 and certainly less high than the WM signal in the patient discussed here,1 who has strongly T2-hyperintense WM signal abnormalities.

Anti-myelin oligodendrocyte glycoprotein antibodies in an Egyptian boy with recurrent paraplegia

Abstract We report a case of NMOSD anti-MOG demyelinating disorder in a 5-year-old male. Case presentation A previously healthy 5-year-old male presented due to secondary inability to walk and incontinence. Initial neuroimaging identified demyelinating lesions of both corona radiata and centrum semiovale with intramedullary abnormal signal intensity opposite C5 and a long segment at upper dorsal spinal cord extending from D2 to D4. The patient received oral steroid with complete resolution of his symptoms. 2 years later, the patient presented with quadriparesis and incontinence. MRI brain and cervical spine revealed multiple cerebral demyelinating lesions and intramedullary high signal intensity opposite most of cervical spinal cord. After a course of oral steroid, the patient showed complete resolution of his symptoms except for mild right-hand weakness. CBC, ESR, ANA were normal. Aquaporin- 4 was negative. VEP showed mild bilateral optic nerve affection. CSF revealed no cells with no abnormal oligoclonal bands, but high IgG index was detected. As a result, IV methyl-prednisolone was initiated. Four months later, the patient presented with sudden diminution of vision. MRI brain showed bilateral symmetrical occipital T2 hyperintense signal. Anti-MOG antibody evaluation was positive. The patient received IV methyl-prednisolone and was commenced on mycophenolate mofetil. He showed complete clinical remission with no relapses. Conclusions This case outlines the management of anti-MOG demyelinating disorder. Understanding the presentation of this clinical entity may allow for earlier intervention and diagnosis with concomitant reduction of morbidity.

Subtle findings on fetal brain imaging in CMV infected pregnancies: What is the clinical significance? A retrospective analysis with outcome correlation.

To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. For the 27 included patients, the time of infection was: periconception, first, second, third trimesters or unknown in 14.8%, 29.7%, 40.7%, 7.4%, and 7.4%, respectively. Seventy-four percent had only MRI findings; white matter hyperintense T2 signal (HT2) (51.8%), mild ventriculomegaly (18.5%), HT2 and temporal cyst (7.4%), dilated occipital horn (7.4%), Periventricular pseudo cyst (PVPC) with dilated occipital horn (3.7%), isolated PVPC (7.4%), choroid plexus cyst (3.7%). In 26% of fetuses, additional ultrasound findings were observed: Lenticulostriatal vasculopathy (LSV) (11.1%), LSV with PVPC (3.84%), isolated PVPC (3.84%), mild ventriculomegaly (3.84%), and bilateral temporal cysts (3.84%). In 66.6%, the MRI had false-positive findings (due to noninfected neonates). All children are developing normally, and one has a hearing deficit. Postnatal ultrasound (US) was normal in 21/27, with LSV in five, and a resolving subependymal cyst in one patient. Subtle imaging findings are more common on MRI than US and the prognosis is most likely favorable. Performing amniocentesis will significantly reduce the false-positive rate.

Efficacy of cell-type specific rescue in a new mouse model of CLN3 disease

Disorders of the white matter are genetically very heterogeneous including several genes involved in mitochondrial bioenergetics. Diagnosis of the underlying cause is aided by pattern recognition on neuroimaging and by next-generation sequencing. Recently, genetic changes in the complex I assembly factor NUBPL have been characterized by a consistent recognizable pattern of leukoencephalopathy affecting deep white matter including the corpus callosum and cerebellum.Here, we report twin boys with biallelic variants in NUBPL, an unreported c.351 G > A; p.(Met117Ile) and a previously reported pathological variant c. 693 + 1 G > A. Brain magnetic resonance imaging showed abnormal T2 hyperintense signal involving the periventricular white matter, external capsule, corpus callosum, and, prominently, the bilateral thalami. The neuroimaging pattern evolved over 18 months with marked diffuse white matter signal abnormality, volume loss, and new areas of signal abnormality in the cerebellar folia and vermis. Magnetic resonance spectroscopy showed elevated lactate.Functional studies in cultured fibroblasts confirmed pathogenicity of the genetic variants. Complex I activity of the respiratory chain was deficient spectrophotometrically and on blue native gel with in-gel activity staining. There was absent assembly and loss of proteins of the matrix arm of complex I when traced with an antibody to NDUFS2, and incomplete assembly of the membrane arm when traced with an NDUFB6 antibody. There was decreased NUBPL protein on Western blot in patient fibroblasts compared to controls.Compromised NUBPL activity impairs assembly of the matrix arm of complex I and produces a severe, rapidly-progressive leukoencephalopathy with thalamic involvement on MRI, further expanding the neuroimaging phenotype.

Progressive myelopathy associated with spinal epidural lipomatosis in three non-obese patients with type 1 diabetes mellitus

BackgroundSpinal epidural lipomatosis (SEL) is a rare condition defined as pathological overgrowth of the normally present epidural fat within the spinal canal. SEL is associated with Cushing disease, obesity and chronic corticosteroid therapy. Diabetes mellitus type 1 (DM1) has not known to be a risk factor for SEL. The neurological symptoms of SEL are attributed mainly to mechanical compression on the spinal cord and the cauda equina. MethodsA retrospective chart review of patients evaluated at NYU Multiple Sclerosis Care Center identified three diabetic patients with progressive myelopathy associated with SEL. We report the clinical course, diagnostic workup and outcomes in these three patients with SEL-associated myelopathy. ResultsThree patients (2 females and 1 male) had long-standing DM1 and developed progressive myelopathy in their early 40's. All were found to have thoracic SEL (extensive extradural T1, T2 hyperintense signal; biopsy confirmed in one case) with associated extensive abnormal cord signal in lower cervical/upper thoracic spinal cord. A comprehensive evaluation for metabolic, infectious, autoimmune and vascular causes of myelopathy that included serologies, cerebrospinal fluid analyses, and spinal angiography did not reveal an alternative cause for myelopathy. One of the patients underwent a surgical decompression of SEL with subsequent clinical and radiologic improvement. ConclusionsOur case series suggest that patients with DM1 and myelopathy of unknown cause should be evaluated for SEL. Timely diagnosis and appropriate intervention may forestall progression of neurological disability and even result in neurologic improvement. SEL should be considered on the short list of diagnoses that cause potentially reversible progressive myelopathy.

An analysis of the clinical and imaging features of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

Objective: To investigate the clinical features and imaging characteristics of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods: Seventeen patients with MELAS diagnosed in the Affiliated Hospital of Xuzhou Medical University from July 2014 to August 2018 were enrolled in this study and their clinical manifestations, imaging and histopathological features were retrospectively analysed. We also discussed and summarised the related literature.Results: All of the 12 patients had seizures; stroke-like episodes in 12 cases; audio-visual impairment in 12 cases; headache in six cases; dysplasia in four cases; mental retardation in three cases; ataxia in two cases. On cranial magnetic resonance (MR) scans, the most common manifestations were in temporal–occipital–parietal lobe, cortical or subcortical areas as well as frontal lobe, thalamus, and basal ganglia showing long or equal T1 signals, long T2 signals, and hyperintense or iso-intense diffusion-weighted imaging (DWI) signals accompanied by ventricular enlargement and brain atrophy. MR spectroscopy showed that lactic acid peaks could be found in lesion sites, normal brain tissues, and cerebrospinal fluid. Muscle biopsy and genetic testing are the gold standard for diagnosing MELAS, muscle biopsy revealed COX-negative muscle fibres and SDH-stained red ragged fibres (RRF) under the sarcolemma. Mutations of mtDNA A3243G locus were common on gene testing. Improvement of mitochondrial function was observed after symptomatic and supportive treatment.Conclusion: MELAS should be considered for patients with epileptic seizures, headache, stroke-like episodes, extraocular palsy, cognitive decline and other clinical manifestations with the lesion located in the temporal–occipital–parietal lobe regardless of the distribution of blood vessels, and further examinations including muscle biopsy and gene testing should be performed to confirm the diagnosis.

P887 Two sides of the same mass

Abstract Echocardiography (echo) remains the first-line imaging modality for the evaluation of cardiac masses. Three-dimensional (3D) echo, either transthoracic or transesophageal (TTE and TEE respectively), has allowed for better definition imaging, providing more information about the size, mobility, attachment and relation of these lesions with cardiac structures. Nevertheless, due to its superior tissue characterization capability, other imaging techniques, such as cardiac magnetic resonance (CMR), are very helpful in the differential diagnosis, making multimodality imaging the most attractive option for the study of intracardiac masses. We present the case of a 85 year-old male, with paroxysmal atrial fibrillation (under effective anticoagulation), type 2 diabetes mellitus, hypertension, referred for the study of an asymptomatic cardiac mass found in a routine TTE. There were no relevant findings on physical examination. The TTE showed a bilobar spheroid mass, in the right atrium, attached to the interatrial septum, with 33x23mm and regular edges. A 3D TEE was performed confirming the previous findings, but also showing extension of this mass through the fossa ovalis membrane, reaching the left atrium; this aspect raised the doubt about either protrusion or invasion of the left atrium and, respectively, a benign (like a myxoma) versus malignant behaviour (such as a sarcoma). To better characterize this lesion, a CMR was ordered, which revealed a bilobar heterogeneous mass, attached to the right side of the interatrial septum, at the fossa ovalis membrane, without signs of adjacent tissue invasion, namely unequivocal invasion of the left atrium; it presented with intermediate T1 signal, hyperintense T2 signal and heterogeneous pattern of gadolinium enhancement, features mostly in favour of a right atrial myxoma. The complimentary study found no other relevant changes, namely no findings suggestive of endocarditis (negative blood cultures), autoimmune disease or malignancy. The patient refused undergoing heart surgery and, therefore, kept follow-up with clinical and echocardiographic stability. Although histological examination remains the only tool for definitive diagnosis, multimodality imaging allows a quite comprehensive evaluation of intracardiac masses, enlightening the differential diagnosis. Here the imaging findings helped to establish a benign origin as the most likely, very important in this case of a probable right atrial myxoma, due to its peculiar protrusion to the left atrium through the fossa ovalis membrane. Abstract P887 Figure. atrial myxoma