T1 Hypointense Research Articles

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56

Family ReportTwo rare autosomal recessive neurological disorders, leukoencephalopathy with ataxia and spastic paraplegia 56 (SPG56), were found in members of the same family. Two siblings presented with spastic paraplegia, cognitive impairment, bladder and bowel dysfunction and gait ataxia; their consanguineous parents were unaffected. Ophthalmological examination revealed chorioretinopathy. Brain MRI showed T2 hyperintensities and T1 hypointensities in the internal capsules, cerebral peduncles, pyramidal tracts and middle cerebellar peduncles. Both affected siblings were homozygous for CYP2U1 c.947A > T p.(Asp316Val), a known cause for SPG56. However, they were also homozygous for the novel variant CLCN2 c.607G > T, p.(Gly203Cys), classified as a variant of unknown significance. Testing of additional family members revealed homozygosity for both variants in an additional brother, whom we initially considered unaffected. Both male CLCN2 carriers were infertile, and review of the literature revealed one reported case with azoospermia, however the brother had no overt signs of SPG56. His testicular biopsy revealed incomplete maturation arrest in spermatogenesis; clinically we found mild memory impairment and hand tremor and MRI showed similar changes as his siblings. We consider CLCN2 c.607G > T pathogenic because of the neuroradiological and clinical findings, including azoospermia. ConclusionConsiderable workup may be required to determine the pathogenicity of novel variants, and to unambiguously associate phenotype with genotype. In very rare disorders, highly specific clinical or biomarker combinations provide sufficient evidence for a variant’s pathogenicity. Phenotypic variation of monogenic disorders described in the literature may be attributed to a second co-occurring monogenic disorder, especially in consanguineous families. SPG56 may have reduced penetrance.

Successful Management of an Acute Case of Orbital Cellulitis of Odontogenic Origin.

Sir, Dental infections left untreated can progress through tissue planes into the orbital space through sinuses and result in orbital abscess which is an ophthalmic emergency. We describe the case of a 47-year-old female, a known diabetic who presented with complaints of severe swelling and pain in periorbital region, associated with fever, vomiting, and prostration for 20 days’ duration. She gave a history of repeated episodes of dental pain arising out of her impacted upper third molar tooth for the past 2 months. Ocular examination of the right eye showed significant proptosis of 24 mm, restriction of extraocular movements in all directions, normal pupillary reaction with best-corrected visual acuity of 6/24, and intraocular pressure of 21 mm of Hg [Figure 1a]. Magnetic resonance imaging (MRI) showed heterogeneous multifocal lesions in the right orbit with T1 hypointensity, T2 hyperintensities with internal septation in the intra-conal and extraconal compartments producing compression over the globe [Figure 1b]. Dental X-ray was suggestive of impacted right maxillary third molar tooth [Figure 1c]. On the second day of her hospital stay, she developed multiple upper and lower eyelid pre-septal and post-septal abscesses which were drained, and the pus was sent for culture and sensitivity. Systemic antibiotics were started in the form of intravenous piperacillin/tazobactam (4.0/0.5 g) 8 hourly, metronidazole (500 mg/100 ml) 8 hourly, and oral linezolid (600 mg) 12 hourly. Blood sugars were monitored and insulin was administered as per her requirement. She was referred to dental surgeon for extraction of the impacted molar tooth. She recovered completely with best-corrected visual acuity of 6/9 and intraocular pressure of 16 mm of Hg. She showed remarkable improvement at 2 weeks after tooth extraction [Figure 1d].Figure 1: (a) Clinical photograph at presentation showing severe proptosis, complete ptosis, erythema, restricted extraocular movements, and pus pointing over lower eyelid skin. (b) MRI sagittal section T1 image showing multiloculated abscesses in intraconal and extraconal compartment of right orbit causing compression of eyeball. (c) Right maxillary posterior intraoral periapical radiograph showing impacted upper third molar tooth. (d) Clinical photograph of the same patient after two weeks with complete resolution of edema, proptosis, and extraocular movements. MRI: Magnetic resonance imagingOrbital cellulitis secondary to dental infection is rare accounting for 2%-5% of all cases of orbital infections.[1] To add to its rarity, orbital abscess constitutes less than 1.3% of abscesses seen in maxillofacial region.[2] Surgical drainage of the abscess and pus sample collection is a recommended modality of treatment as reported by many authors.[3,4] Empirical antibiotics and proper intravenous fluid hydration are mainstay of treatment. Systemic corticosteroids fasten the resolution of inflammation and duration of hospital stay.[5] A multidisciplinary approach with dentists, diabetologists, and ophthalmologists is required to prevent serious complications of venous sinus thrombosis. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed. Research quality and ethics statement The authors followed applicable EQUATOR Network (http://www.equator-network.org/) guidelines, notably the CARE guideline, during the conduct of this report. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

A Case Study on Tubercular Cavernous Sinus Syndrome

Tubercular cavernous sinus syndrome is a rare condition of extra-pulmonary tuberculosis EPTB in which cavernous sinus involvement is observed. Cavernous sinus is a venous structure that holds and protects pituitary gland on one side and temporal lobe on other side. CSS is mainly characterized by multiple cranial neuropathies which is effected by various etiologies. This is a case report of tubercular cavernous sinus syndrome admitted to hospital with chief complaints of fever headache drooping of eyelids altered sensorium with disorientation and fever that reduced over next 3 to 4 days but headache was still persisting due to the damage to the cranial nerves. Based on these symptoms they underwent clinical examination which revealed hypotension elevated CRP levels and MRI suggestive of acute dural venous sinus thrombosis involving superior sagittal sinus and bilateral bulky cavernous sinus with transverse T2 hypo intensity in right transverse sagittal superior sagittal and internal jugular vein IJV. Granulomatous etiology indicated tubercular cavernous sinus syndrome. For this treatment was initiated with anti-tubercular drug therapy with vitamin supplements and anticoagulants. EPTB remains a significant health problem in developing countries. Prevalence of EPTB is increasing over the last several years globally.

Ependymal lined paraventricular neuroglial cyst: an outcome of endoscopic cystoventriculostomy concomitant ventriculoperitoneal shunt procedures: a case report

Neuroglial cysts are one of the problems that might develop in the neuroaxis region. We present the case of a 79-year-old male with an acute decrease in consciousness, dysphagia, and seizure with a past medical history of a cystic mass in the frontal lobe since 5 years ago. A cystic lesion with a calcification component was found in the regio left frontal after the patient received a head CT without contrast. The periventricular white matter is where the lesion is found. Subsequent brain MRI with and without contrast showed hypointense T1 weighted image (T1W1), hyperintense T2-weighted imaging (T2W1), hypointense fluid-attenuated inversion recovery (FLAIR), and non-restricted diffusion-weighted imaging (DW1). A non-enhancing intra-axial lesion measuring 5.1 cm (AP) x 3.1 cm (LL) x 3.6 cm (CC). Following a discussion of the benefits and risks with his family, the decision was eventually made to proceed with Endoscopic Cystoventriculotomy (Cyst Fenestratum) and concurrent ventriculoperitoneal (VP)-shunting. This method produced positive results. The preferred method is endoscopic fenestration since it carries fewer risks and consequences than open craniotomies and fenestration.

Epileptic Manifestations, Pathophysiology and Imaging Characteristics of Non-Ketotic Hyperglycaemia: A Report of One Case with Irreversible Homonomous Hemianopia

Background: Focal seizures related to non-ketotic hyperglycemia (NKH) are rare in clinical practice. Plasma glucose levels are usually above 16.6 mmol/L and with normal or slightly elevated serum osmolality. The occurrence of focal seizures may be augmented by the absence of ketoacidosis. Electroencephalogram (EEG) during seizures usually confirms the diagnosis, however, the absence of epileptiform discharges does not rule out seizures. A non-ketotic hyperglycemiaassociated occipital lobe seizure can manifest itself as color flashes, blurry vision with periodic confusion, and usually resolves with insulin treatment and rehydration. Recently, seizures associated with nonketotic hyperglycemia have been found to be associated with subcortical T2 hypointensity on magnetic resonance imaging, especially in the occipital lobes. However, the mechanism remains unclear, although iron accumulation is suggested. Case Presentation: We present a case 41- year-old male patient who presented headache, left-sided visual disturbances in the form of seeing round, colored flickering lights with left homonymous hemianopia and occipital lobe seizures associated with nonketotic hyperglycemia found to have a blood glucose of 18 mmol/L with a normal anion gap of 10 and calculated serum osmolality of 303 mOsm/L. Magnetic resonance imaging (MRI) brain showed subcortical T2 and flair hypointensity due to iron accumulation .The patient’s visual disturbances and seizures responded to rehydration and insulin treatment. Conclusion: In conclusion, nonketotic hyperglycemia can be associated with occipital lobe seizures supporting the role of iron accumulation as a mechanism for subcortical T2 hypointensity in magnetic resonance imaging. Hyperglycemia should be taken into consideration when making an etiologic diagnosis of homonymous hemianopia.

Correlation of Surgical Outcomes of Petroclival Meningiomas with Clinicoradiologic Parameters and Molecular and Chromosomal Alterations

To identify clinical, radiologic, intraoperative, histopathologic, and molecular factors that might affect the surgical outcome of petroclival meningiomas. Medical records of 53 cases of petroclival meningiomas operated from 2003 to 2021 were reviewed for clinicoradiologic and molecular factors that were correlated with extent of resection. Modified Dolenc-Kawase anterior transpetrous rhomboid (44, 83.0%) was the most commonly used approach, followed by retrosigmoid (2, 3.8%) and combined (7, 13.2%) approaches. Hypointense tumors on T2-weighted magnetic resonance imaging (odds ratio [OR] 5.85; 95% confidence interval [CI] 1.70-20.41) and presence of brainstem edema (OR 4.53; 95% CI 1.36-15.12) were found to be significant factors increasing the likelihood of subtotal resection (STR; P= 0.004 and P= 0.011, respectively). In the presence of both tumor T2 hypointensity and brainstem edema, there was a significant increase in the likelihood of STR (P= 0.001; OR 25; 95% CI 3.52-177.48). Of the 16 cases for which molecular analysis was performed, no specimen was found to have pTERT, AKT-1 E17K, and SMO L412F and W535L mutations. All (100%) the patients harboring H3K27me3 loss and/or hemizygous CDKN2A deletion had cavernous sinus extension compared with 62.5% of patients without H3K27me3 loss and 72.7% with hemizygous CDKN2A retention. Similarly, hemizygous CDKN2A deletion and H3K27me3 loss were associated with an increase in the rate of brainstem edema from 27.3% to 60% and 25% to 50%, respectively. T2 hypointense tumor and brainstem edema on preoperative imaging are significant predictors of STR. H3K27me3 loss and hemizygous CDKN2A deletion may be associated with cavernous sinus extension, suggesting their role in tumor spread.

DESMOID TUMOUR OF ANTERIOR ABDOMINAL WALL: A CASE REPORT

Desmoid tumours are broblastic neoplasms which show aggressive inltrative behaviour and can cause mass effect. They should be monitored for asymptomatic patient as there is a possibility of spontaneous regression. For patients with rapidly growing or symptomatic tumors resection is recommended. If complete pathologic resection is not achievable without signicant morbidity, more modest resection is recommended along with treatment with adjuvant therapies. A 36-year-old female presented to the surgery OPD with the complaint of lump in left iliac fossa for last 2 years, initially 3 x 2 cm in size but gradually increasing in size with stable vitals and examination nding of lump palpable in left iliac fossa of size 20 x 15cm, hard in consistency, not xed to skin, mobile, non-tender and becoming prominent on leg raising test. MRI pelvis was suggestive of 17.1 x 12.8 x 11.4cm, T2 hypointense lesion in left hemipelvis with extension into the hypogastrium and left iliac fossa, inltrating the left anterior abdominal wall in the left iliac fossa and hypogastrium and reaching to skin surface via large defect in the abdominal wall size, abutting and displacing the urinary bladder and left external and internal iliac vessels with the angle of contact less than 90 degrees with the vessels and left ovary not visualised separate from the lesion. FNAC was suggestive of spindle cell tumour. The patient successfully underwent wide local excision along with left oopherectomy, mesh repair and transverse rectus abdominis myocutaneous (tram) ap. Conclusion: Since, desmoid tumors are locally aggressive and invasive, timely surgical intervention with resection in this patient prevented further progression of the tumour and the high probability of invasion and involvement of major blood vessels thus signicantly reducing the fatality.

Reverse Remodeling and Non-Contrast T1 Hypointense Infarct Core in Patients With Reperfused Acute Myocardial Infarction.

Non-contrast T1 hypointense infarct cores (ICs) within infarcted myocardium detected using cardiac magnetic resonance imaging (CMR) T1 mapping may help assess the severity of left ventricular (LV) injury. However, because the relationship of ICs with chronic LV reverse remodeling (LVRR) is unknown, this study aimed to clarify it. We enrolled patients with reperfused AMI who underwent baseline CMR on day-7 post-primary percutaneous coronary intervention (n=109) and 12-month follow-up CMR (n=94). Correlations between ICs and chronic LVRR (end-systolic volume decrease ≥15% at 12-month follow-up from baseline CMR) were investigated. We detected 52 (47.7%) ICs on baseline CMR by non-contrast-T1 mapping. LVRR was found in 52.1% of patients with reperfused AMI at 12-month follow-up. Patients with ICs demonstrated higher peak creatine kinase levels, higher B-type natriuretic peptide levels at discharge, lower LV ejection fraction at discharge, and lower incidence of LVRR than those without ICs (26.5% vs. 73.3%, P<0.001) at follow-up. Multivariate logistic regression analysis showed that the presence of ICs was an independent and the strongest negative predictor for LVRR at 12-month follow-up (hazard ratio: 0.087, 95% confidence interval: 0.017-0.459, P=0.004). Peak creatine kinase levels, native T1 values at myocardial edema, and myocardial salvaged indices also correlated with ICs. ICs detected by non-contrast-T1 mapping with 3.0-T CMR were an independent negative predictor of LVRR in patients with reperfused AMI.

NIMG-101. COMPARISON OF PRE-SURGICAL MRI FINDINGS FROM LONG-TERM (≥ 3 YRS) VERSUS SHORT-TERM (&amp;lt; 3 YRS) GLIOBLASTOMA SURVIVORS: A BLINDED, CASE-CONTROL REVIEW

Abstract BACKGROUND The median overall survival of patients with glioblastoma (GBM) is 10-12 months and the five-year survival ranges from 5-10%. Favorable clinical and molecular prognostic markers have been described in the literature, although an individual patient’s prognosis cannot easily be predetermined on these features as shown in the NOB-LTS project by Briceno et al. (SNO 2021). Until now, no radiologic characteristics have been correlated with better patient outcomes. We reviewed eighteen MRI features to determine if these could aid the identification of long-term survivors (LTS). METHODS From the NOB-LTS cohort of our Natural History Study, 16 long-term survivals (LTS; ≥ 3 years survival post-diagnosis) were matched based on sex, age, and extent of resection to 32 control (STS, &amp;lt; 3 years survival post-diagnosis) patients with NGS-confirmed IDH-wt glioblastoma. Pre-surgical MRIs (T1, T1 post-contrast, T2, T2/FLAIR, DWI, ADC) were reviewed by three blinded reviewers and analyzed based on pre-set criteria. RESULTS T1 hypointensity occurred commonly in the LTS (71%) vs STS (29%) while central heterogeneous signal occurred commonly in the STS (73%) vs LTS (50%) patients. Restricted diffusion was seen in 82% of STS and 70% of LTS cases. No difference was seen in irregular enhancement, peripheral and grey matter enhancement on T1 post-contrast images. Evaluation of T2/FLAIR images showed no difference in the number of lobes involved, presence of mass effect, heterogeneity of the signal or the perilesional signal abnormality or involvement of grey matter. CONCLUSION Our results suggest that pre-surgical MRI might be a useful prognostic tool as T1 hypointensity more frequently, and T1 central heterogeneity less commonly seen in the LTS group. These imaging findings may provide additional insights regarding the differences in tumor biology between LTS and STS. Further validation and correlation with histological/molecular characteristics are planned to better predict patient outcomes with newly diagnosed glioblastoma.

NIMG-94. A RARE CASE OF INFRATENTORIAL CEREBELLAR VERMIS MULTINODULAR AND VACUOLATING NEURONAL TUMOR

Abstract INTRODUCTION Multinodular and vacuolating neuronal tumor (MVNT) is a rare entity that was first recognized by the World Health Organization Classification of Tumors of the Central Nervous System in 2016. The majority of MVNT cases reported were supratentorial in location and only a small subset of cases included infratentorial involvement. In the supratentorial, MVNT is often a nidus for seizure and surgical resection is for seizure control. Infratentorial MVNT lesions are typically not or only mildly symptomatic; thus, surgical intervention may not be warranted. Here we describe the clinical course of a patient who was found to have a cerebellar vermis lesion that consistent with infratentorial MVNT. CASE REPORT A 41-year-old man sought care due to new onset headache. A brain magnetic resonance imaging (MRI) exam revealed a coalescence of bubble-like cystic lesions in the cerebellar vermis that were T1 hypointense, T2/Flair hyperintense without contrast enhancement. Initially, the lesions were attributed to neurocysticercosis but work-up was not supporting the diagnosis. MRA of head and neck found no cerebral stenosis or vascular malformation. The unique MRI features support infratentorial MVNT diagnosis. Disease course, work-up and MRI features are not consistent with low grade glioma, subacute ischemia infarct, demyelinating disease or chronic fungal or parasite infection. Brain MRI surveillance has completed every 6 months; no interval change to the cerebellar vermis lesions has been seen over past two years. Clinically, the patient has been doing well and his headache has resolved. DISCUSSION MRI features of MVNT are predominantly mixed solid and cystic, bubble-like, T2/Flair-hyperintense, T1 hypointense lesions in the deep cortical region and superficial white matter without contrast enhancement. This case demonstrates that although no specific criteria to diagnose MVNT, neurologists and neuro-oncologists should be aware of the distinguishing radiographic features, which can help patients avoid unnecessary testing and potentially harmful interventions.

Clinicopathological characteristics of H3K27-altered diffuse midline glioma and evaluation of NTRK as its therapeutic target

Objective: To investigate the clinicopathological characteristics of H3K27-altered diffuse midline glioma (DMG), and to analyze DMG's prognostic factors, and subsequently, to study the possibility of using NTRK as a therapeutic target for DMG. Methods: A total of 232 DMG diagnosed at the Sanbo Brain Hospital, Capital Medical University, Beijing, China from July 2016 to March 2021 were collected. Their clinical, radiological and pathological features, the ratio of MGMT promoter methylation, expression of NTRK, and characteristics of NTRK gene fusion were analyzed. The prognostic values of different factors were also studied, including age, tumor location, histological grade, gene and protein expression of NTRK, and postoperative adjuvant therapy. Results: Among the 232 DMG cases, there were 8 patients with both primary and relapse tumors on the record. Thus, a total of 224 patients were analyzed, including 118 males and 106 females. There were 126 adults (>18 years of age) and 98 children (≤18 years of age). Notably, the most frequent location was thalamus (41/126, 32.5%) in adults, but brainstem (59/96, 60.2%) in children. The lesions showed T1 hypointensity or isointensity, and T2 hyperintensity. However, contrast enhancement patterns of the tumors varied, with many tumors lacking contrast-enhancing. The histological grades included grade 2 (9/224, 4.0%), grade 3 (41/224, 18.3%) and grade 4 (174/224, 77.7%). Two hundred and twenty-four DMGs were diffusely positive for H3K27M and negative for H3K27me3. The ratio of MGMT promoter methylation was low (1/45, 2.2%). One hundred and seventy-seven of the 224 cases (177/224, 79.0%) were positive for NTRK. Fifty cases were analyzed using fluorescence in situ hybridization. Among them, five DMGs (positive rate, 10.0%) were NTRK fusion positive. This study showed that there were no differences between adult and pediatric DMGs in histological grading, expression of NTRK, and NTRK gene fusion. One hundred and fifty-nine patients were included in the follow-up analysis (P>0.05). During the follow-up period, 109/159 patients (69.6%) died of the disease, with a median survival time of 12 months (range 1 to 55 months). Univariate log-rank analysis showed that age, location, surgical procedure and postoperative adjuvant therapy were associated with overall survivals of the DMG patients (P<0.05). Conclusions: The prognosis of DMG is poor overall. There are differences between adult and pediatric DMGs in anatomic location and prognosis, but not in other features. NTRK1 gene fusion is detected in 10.0% of the tumors. It suggests that TRK inhibitor might be a choice for treating DMG.

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.

β propeller protein-associated neurodegeneration (BPAN) is the most common neurodegeneration with brain iron accumulation disorder. Typical radiologic findings are T2 hypointensity in the substantia nigra and globus pallidus, as well as a T1 halolike substantia nigra hyperintense signal surrounding a hypointense central area. However, these findings are often subtle or absent on initial scans, risking diagnostic delay. In this study, we sought to investigate radiologic findings that could aid in the early diagnosis of BPAN. A retrospective cohort study was performed in a national referral center, including all pediatric patients with confirmed pathogenic WDR45 mutations and consistent clinical semiology. MR imaging findings were independently reported by 2 pediatric neuroradiologists. Fifteen patients were included in the study, and 27 scans were available for review. The initial neuroimaging study was undertaken at a mean age of 3.2 years. Iron deposition was uncommon in patients younger than 4 years of age. Neuroradiologic features from very early on included dentate, globus pallidus, and substantia nigra swelling, as well as a thin corpus callosum and small pontine volume. Optic nerve thinning was also present in all patients. Our study highlights the key early MR imaging features of BPAN. Iron deposition in the globus pallidus and substantia nigra is not common in children younger than 4 years of age; clinicians should not be deterred from suspecting BPAN in the presence of the findings described in this study and the appropriate clinical context.

PMON116 Central Diabetes Insipidus in a patient with Pituitary Macroadenoma status post Trans-sphenoidal Resection, complicated by Nephrogenic Diabetes Insipidus due to Chronic Lithium use

Abstract 59-year-old female with PMH of Bipolar disorder and Pituitary macroadenoma presented to the ER yesterday for worsening Headache associated with nausea, vomiting and double vision. Detailed imaging of the pituitary gland demonstrated a hypo enhancing sellar and suprasellar mass extending asymmetric to the right, appears to fill and expand the right cavernous sinus. This was associated with T2 hypo intensity. The hypo enhancing mass measured around 2.9 cm AP by 2.7 cm transverse by 3.5 cm CC, previously 2.9×2.4×3.1 cm. Of note, she was found to have this pituitary macroadenoma non-functional on prior testing. Important to note that she had history of bipolar disorder and it was refractory to many medications and was started on Lithium 10 months prior to this presentation. She underwent Image Guided Endoscopic Trans nasal Transsphenoidal Resection of Pituitary Tumor with reconstruction with Nasoseptal Flap, Lumbar Drain Placement, and Injection of Intrathecal Fluorescein Dye. Her postoperative course was complicated by Central DI and was started on DDAVP treatment. Eventually she developed Panhypopituitarism and needed Levothyroxine and Hydrocortisone replacement therapy. She had a prolonged hospital course due to post-surgical meningitis resulting in fever and encephalopathy. She had persistent hypernatremia and lithium was discontinued given the fact she was found to be in Nephrogenic DI and her hypernatremia requiring intravenous D5 water fluid treatment for a brief period. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

LBSAT65 Search For A Duplicitous Pheochromocytoma

Abstract Introduction Pheochromocytomas are discovered during work up of adrenal incidentalomas and can be biochemically and clinically silent. We present a case of a patient who presented with typical "adrenergic spells" suggestive of pheochromocytoma but negative biochemical testing and non-confirmatory imaging findings. Case Report 39-year-old male presented with 4 weeks history of episodes of throbbing headaches, palpitations, sweating. He was found to be hypertensive, blood pressure of 220/110 mm Hg. Losartan was initiated, but symptoms persisted. Work-up for endocrine causes of hypertension revealed normal plasma renin activity 1.123 ng/ml/hr (0.167 to 5.380) and undetectable aldosterone level &amp;lt;1 ng/dl (0. 0-3. 0), mildly elevated random plasma normetanephrine 270 pg/ml (0-210), normal plasma metanephrines 49 pg/ml (0-88). Low-dose dexamethasone suppression test showed unsuppressed morning cortisol of 2.1ug/dl, undetectable ACTH &amp;lt;5 pg/ml, dexamethasone level 486 ng/dl. 24 urinary cortisol and 2 midnight salivary cortisol samples failed to confirm the diagnosis. 24-hr urine studies showed mildly elevated 24-hr normetanephrine 735 ug/24 hr (156-729), normal 24-hr metanephrines 197 ug/L (58-276), normal 24 hr epinephrine and dopamine levels. Repeat testing revealed normal plasma metanephrines levels and mildly elevated plasma normetanephrine levels 287 pg/ml (less than twice above the upper limit of normal). Dopamine and Chromogranin A levels were undetectable. Abdominal CT showed 2 cm round soft tissue density 42HU in right adrenal gland. Left adrenal gland contained 3 nodules measuring 11, 15 and 16 mm–all with density &amp;lt;10HU. MRI findings for the 2.2 cm right adrenal nodule was without significant drop in signal intensity on the in and out of phase sequences appearing moderately T2 hyperintense and T1 hypointense. Differential included atypical/fat poor adenoma, pheochromocytoma, or metastasis. On GA 68 Dotatate PET-CT this 2.2cm adrenal nodule had minimal to low radiotracer uptake. Since a pheochromocytoma could not be ruled out, patient was started on alpha blockade. Preoperative genetic testing was negative for common mutations associated with pheochromocytoma/paraganglioma syndromes. Patient underwent laparoscopic right adrenalectomy. Histopathology report confirmed 2.8 cm pheochromocytoma with a low PASS (2/20) and low GAPP score. Conclusion and Discussion Patients with borderline nor metanephrine elevations represent a diagnostic and therapeutic dilemma. The patient presented with adrenergic paroxysms strongly suggestive of underlying pheochromocytoma. Labs and imaging were not typical for pheochromocytoma and were indeterminate. Given strong clinical suspicion for a pheochromocytoma, we decided to proceed with adrenalectomy after pre-treatment with alpha blockers. Final histopathologic report confirmed the diagnosis of pheochromocytoma. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

ODP337 Neurenteric Cyst Apoplexy with Post-Operative Diabetes Insipidus in a 14-year-old Male

Abstract Background Apoplexy of benign neurenteric cysts can present with acute onset of a severe headache. Pituitary dysfunction, such as hypothyroidism and diabetes insipidus, can occur after transsphenoidal resection of these cysts. Clinical Case A 14-year-old male presented to the ED with acute onset of a severe headache, nausea and emesis. He denied recent vision changes, weight changes, temperature intolerance, diarrhea, constipation, skin changes, polyuria, or polydipsia. He reported starting puberty by 13 years of age. He was treated with Zofran, Tylenol, and Dexamethasone which led to headache resolution. His MRI showed a trans-sellar structure measuring 12 by 16 mm and demonstrating internal intrinsic T1 hyper-intensity, deep T2 hypo-intensity, and mildly thickened peripheral enhancement. The lesion abuts the undersurface of the optic chiasm and the stalk enhances normally. The neurohypophysis is not well identified. The optic nerves are unremarkable, and the optic chasm is slightly bowed superiorly. His initial labs were significant for: Na 136 mmol/L, K 4 mmol/L, TSH 1.15 uIU/mL, FT4 0.81 ng/dL, IGF-1 286 ng/mL, cortisol &amp;lt;1 ug/dL (drawn in the PM), FSH 6.23 mIU/mL, LH 2. 01 mIU/mL, PRL 7.8 ng/mL, testosterone 187 ng/dL. He was taken to surgery where a transsphenoidal resection with a mucosal graft for sellar reconstruction was completed. Pathology results showed evidence of a neurenteric cyst with glandular elements within the cyst wall. He was noted to have an increase in water intake and urine output post-operatively with intake of 6200 mL and output of 6768 mL over 24 hours (3.5 mL/kg/hr). His Na was 141 mmol/L with urine SG of 1. 002, and urine osmolality of 75 mosm/kg. He was discharged on a DDAVP dose of 0.2 mg tid. His thyroid function was reassuring post-op with a T4 of 8.4 ug/dL. He had a normal morning cortisol of 14.6 ug/dL. One month post-op, he required treatment with a DDAVP dose of 0.1 mg bid. The rest of his pituitary function appeared intact one month post-op with labs significant for LH 2.56 mIU/mL, FSH 5 mIU/mL, testosterone 261 ng/dL, PRL 7.8 ng/mL, TSH 2. 09 uIU/mL, and FT4 1 ng/dL. Conclusion This case demonstrates that neurenteric cyst apoplexy can occur in teenagers who present with the acute onset of a severe headache with associated nausea and emesis. This case demonstrates the importance of thoroughly investigating the patient's pituitary function at baseline and post-operatively since pituitary deficiencies, such as DI, can occur. Presentation: No date and time listed

Surgical Management of Endometriosis of the Bladder and Ureter

<h3>Study Objective</h3> To demonstrate a step-by-step approach for the surgical management of urinary tract endometriosis using conventional laparoscopy for partial cystectomy and robotic-assisted laparoscopy for ureteroneocystostomy. <h3>Design</h3> Surgical video. <h3>Setting</h3> Academic tertiary referral center for endometriosis. <h3>Patients or Participants</h3> The first patient was a 38-year-old G3P3 with a history of hysterectomy presenting with dysuria had an MRI which revealed a T2 hypointense bladder nodule consistent with endometriosis. The second patient was a 25-year-old nulliparous woman with history of stage IV endometriosis with DIE into the bowel and both ureters causing subsequent hydronephrosis requiring bilateral ureteral stents and subsequently bilateral percutaneous nephrostomy tubes. <h3>Interventions</h3> In the first case, a cystoscopy was performed to confirm MRI findings of bladder lesion and to delineate borders and depth of invasion. Conventional laparoscopy was utilized to perform bilateral ureterolysis, bladder mobilization, partial cystectomy for complete excision of the lesion, and two-layered bladder closure. Use of indigo carmine assisted with ureteral orifice identification. In the second case, cystoscopy was performed with injection of ICG to assist with ureteral identification. After ureterolysis, distal ureteric obstruction due to extensive disease was confirmed on laparoscopy and ureteroscopy. Bilateral ureteroneocystostomy with placement of Double-J ureteral stents was performed using a robotic-assisted approach. Each patient had indwelling foley catheter for bladder decompression during recovery. <h3>Measurements and Main Results</h3> Both patients had an uneventful postoperative course. A postoperative retrograde cystogram confirmed adequate repair prior to removal of each foley catheter. Patient two had office stent removal 6 weeks postoperative. <h3>Conclusion</h3> Endometriosis is an increasingly common condition. It is important for gynecological surgeons to have the proper understanding of anatomy, surgical technique, and multidisciplinary care needed with urology for safe and complete excision of bladder and ureter endometriosis.

Mesenchymal stem cells for subchondral bone marrow lesions: From bench to bedside

Subchondral bone marrow lesions (BMLs) are areas of disease within subchondral bone that appear as T1 hypointense and T2 hyperintense ill-defined areas of bone marrow on magnetic resonance imaging. The most common bone marrow lesions include subchondral lesions related to osteoarthritis, osteochondral defects, and avascular necrosis. Emerging therapies include autologous biologic therapeutics, in particular mesenchymal stem cells (MSCs), to maintain and improve cartilage health; MSCs have become a potential treatment option for BMLs given the unmet need for disease modification. Active areas in the preclinical research of bone marrow lesions include the paracrine function of MSCs in pathways of angiogenesis and inflammation, and the use of bioactive scaffolds to optimize the environment for implanted MSCs by facilitating chondrogenesis and higher bone volumes. A review of the clinical data demonstrates improvements in pain and functional outcomes when patients with knee osteoarthritis were treated with MSCs, suggesting that BM-MSCs can be a safe and effective treatment for patients with painful knee osteoarthritis with or without bone marrow lesions. Preliminary data examining MSCs in osteochondral defects suggest they can be beneficial as a subchondral injection alone, or as a surgical augmentation. In patients with hip avascular necrosis, those with earlier stage disease have improved outcomes when core decompression is augmented with MSCs, whereas patients in later stages post-collapse have equivalent outcomes with or without MSC treatment. While the evidence for the use of MSCs in conditions with associated bone marrow lesions seems promising, there remains a need for continued investigation into this treatment as a viable treatment option.

High-risk lesions in the breast diagnosed by MRI-guided core biopsy: upgrade rates and features associated with malignancy.

This study assessed the upgrade rates of high-risk lesions (HRLs) in the breast diagnosed by MRI-guided core biopsy and evaluated imaging and clinical features associated with upgrade to malignancy. This IRB-approved, retrospective study included MRI-guided breast biopsy exams yielding HRLs from August 1, 2011, to August 31, 2020. HRLs included atypical ductal hyperplasia (ADH), lobular carcinoma in situ (LCIS), atypical lobular hyperplasia (ALH), radial scar, and papilloma. Only lesions that underwent excision or at least 2years of MRI imaging follow-up were included. For each HRL, patient history, imaging features, and outcomes were recorded. Seventy-two lesions in 65 patients were included in the study, with 8/72 (11.1%) of the lesions upgraded to malignancy. Upgrade rates were 16.7% (2/12) for ADH, 100% (1/1) for pleomorphic LCIS, 40% (2/5) for other LCIS, 0% (0/19) for ALH, 0% (0/18) for papilloma, and 0% (0/7) for radial scar/complex sclerosing lesion. Additionally, two cases of marked ADH bordering on DCIS and one case of marked ALH bordering on LCIS, were upgraded. Lesions were more likely to be upgraded if they presented as T2 hypointense (versus isotense, OR 6.46, 95% CI 1.27-32.92) or as linear or segmental non-mass enhancement (NME, versus focal or regional, p = 0.008). Our data support the recommendation that ADH and LCIS on MRI-guided biopsy warrant surgical excision due to high upgrade rates. HRLs that present as T2 hypointense, or as linear or segmental NME, should be viewed with suspicion as these were associated with higher upgrade rates to malignancy.

The value of adjacent vessel sign in malignant breast tumors.

PURPOSE The aim of this study was to evaluate the prognostic quality of adjacent vessel sign (AVS) in malignant breast tumors by comparing it with classical prognostic pathological biomarkers and magnetic resonance imaging (MRI) findings. METHODS A total of 124 patients with 133 malignant lesions were included. All the imaging was performed on a 1.5T Avanto scanner and the images were interpreted according to BI-RADS-MR® (fifth ed.) atlas. Maximum intensity projection (MIP) images were constructed from subtracted post-contrast images and were used to investigate AVS. Histopathological results and MRI findings were compared with AVS. RESULTS Interobserver agreement about AVS status was substantial (κ=0.64). AVS positive lesions were significantly bigger in size (P < .001, AVS negative: median 12 mm, AVS positive: median 31 mm). AVS was significantly associated with increased Ki-67 index and axillary lymph node metastasis (P=.009 and P=.019, respectively). Between AVS and lymphovascular invasion (LVI), there was a trend toward positive relationship (P=.076). MRI findings of T2 hypointensity, peritumoral edema, irregular shape, non-homogeneous contrast enhancement, rapid early contrast enhancement, and skin infiltration showed significant positive relation with AVS (P < .001, P < .001, P < .001, P=.02, P=.021, and P=.021, respectively). AVS is found to be associated with increased Ki-67 index, axillary lymph node metastasis, and some MRI findings that point to malignancy or poor prognosis. CONCLUSION AVS indicates poor prognosis since it is related to axillary lymph node metastasis, increased Ki-67 index, LVI, peritumoral edema, rapid early contrast enhancement, increased background enhancement, skin extension, T2 hypointensity, non-homogeneous contrast enhancement, irregular lesion shape, and larger tumor size. AVS is an easy to use sign that shows substantial interobserver agreement.

Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease.

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists and neuroradiologists with expertise in CLN2 convened to discuss early electroencephalogram (EEG) and magnetic resonance imaging (MRI) findings in CLN2 diagnosis. Of 18 CLN2 cases, 16 (88.9%) had background slowing and 16 (88.9%) had epileptiform discharges on initial EEG. Seven of 17 (41.2%) patients who received intermittent low-frequency photic stimulation had a photoparoxysmal response. Initial MRIs showed subtle cerebellar (n = 14, 77.8%) or cerebral (n = 9, 50.0%) atrophy, white matter abnormalities (n = 11, 61.1%), and basal ganglia T2 hypointensity (n = 6, 33.3%), which became more apparent on follow-up MRI. The recognition of even subtle cerebellar atrophy and white matter signal changes in children aged 2-5 years who present with language delay, new-onset seizures, and an EEG with epileptiform discharges and background slowing should prompt investigation for CLN2. Because these early signs are not unique to CLN2, genetic testing is essential early in the diagnostic journey.