Quantitative evaluation of pulmonary hypertension using 4D flow MRI: A retrospective study.

Background: Pulmonary hypertension (PH) is a severe vascular disorder that may affect 50 % of patients with heart failure. Currently, right-sided heart catheterization is required to definitively diagnose PH. However, this method is invasive and thus may not be appropriate for repeated, long-term monitoring of PH patients. This retrospective study's aim was to evaluate whether 4D flow magnetic resonance imaging (MRI) can be used to quantitively measure flow parameters to identify patients with PH. Methods: The study cohort included 97 patients recruited from a single institution and divided into three groups based on echocardiographic estimate of pulmonary artery systolic pressure (PASP): normal group with PASP<36 mmHg, borderline PH group with PASP of 37-50 mmHg, and PH group with PASP>50 mmHg. 4D flow MRI was used to quantitively assess blood flow and velocity, regurgitation, wall shear stress (WSS) and kinetic energy in the pulmonary artery trunk, right main pulmonary artery, and left pulmonary artery. Two experienced radiologists independently analyzed the MR images, blinded to clinical details. Results: We found a significant difference in WSS in the pulmonary artery trunk, right main pulmonary artery and left main pulmonary artery among the three patient groups. We also found significant differences in the kinetic energy and average through velocity in the pulmonary artery trunk and right main pulmonary artery, and significant differences in the flow rate in the right main pulmonary artery. Conclusion: These data suggest that 4D flow MRI can quantitate pulmonary artery flow parameters and distinguish between patients with and without PH.

Assessment for Carotid Atherosclerotic Plaque Using Vessel Wall Magnetic Resonance Imaging: A Multireader ROC Study to Determine Optimal Sequence for Detecting Vessel Wall Calcification.

INTRODUCTION: We aimed to compare conventional vessel wall MR imaging techniques and quantitative susceptibility mapping (QSM) to determine the optimal sequence for detecting carotid artery calcification. METHODS: Twenty-two patients who underwent carotid vessel wall MR imaging and neck CT were enrolled. Four slices of 6-mm sections from the bilateral internal carotid bifurcation were subdivided into 4 segments according to clock position (0-3, 3-6, 6-9, and 9-12) and assessed for calcification. Two blinded radiologists independently reviewed a total of 704 segments and scored the likelihood of calcification using a 5-point scale on spin-echo imaging, FLASH, and QSM. The observer performance for detecting calcification was evaluated by a multireader, multiple-case receiver operating characteristic study. Weighted κ statistics were calculated to assess interobserver agreement. RESULTS: QSM had a mean area under the receiver operating characteristic curve of 0.85, which was significantly higher than that of any other sequence (p < 0.01) and showed substantial interreader agreement (κ = 0.68). A segment with a score of 3-5 was defined as positive, and a segment with a score of 1-2 was defined as negative; the sensitivity and specificity of QSM were 0.75 and 0.87, respectively. CONCLUSION: QSM was the most reliable MR sequence for the detection of plaque calcification.

Amide Proton Transfer-Chemical Exchange Saturation Transfer Imaging of Intracranial Brain Tumors and Tumor-like Lesions: Our Experience and a Review.

Chemical exchange saturation transfer (CEST) is a molecular magnetic resonance imaging (MRI) method that can generate image contrast based on the proton exchange between labeled protons in solutes and free, bulk water protons. Amide proton transfer (APT) imaging is the most frequently reported amide-proton-based CEST technique. It generates image contrast by reflecting the associations of mobile proteins and peptides resonating at 3.5 ppm downfield from water. Although the origin of the APT signal intensity in tumors is unclear, previous studies have suggested that the APT signal intensity is increased in brain tumors due to the increased mobile protein concentrations in malignant cells in association with an increased cellularity. High-grade tumors, which demonstrate a higher proliferation than low-grade tumors, have higher densities and numbers of cells (and higher concentrations of intracellular proteins and peptides) than low-grade tumors. APT-CEST imaging studies suggest that the APT-CEST signal intensity can be used to help differentiate between benign and malignant tumors and high-grade gliomas and low-grade gliomas as well as estimate the nature of lesions. In this review, we summarize the current applications and findings of the APT-CEST imaging of various brain tumors and tumor-like lesions. We report that APT-CEST imaging can provide additional information on intracranial brain tumors and tumor-like lesions compared to the information provided by conventional MRI methods, and that it can help indicate the nature of lesions, differentiate between benign and malignant lesions, and determine therapeutic effects. Future research could initiate or improve the lesion-specific clinical applicability of APT-CEST imaging for meningioma embolization, lipoma, leukoencephalopathy, tuberous sclerosis complex, progressive multifocal leukoencephalopathy, and hippocampal sclerosis.

Impact of width of susceptibility vessel sign on recanalization following endovascular therapy.

BACKGROUND AND PURPOSE: We aimed to investigate the relationship between arterial recanalization following endovascular therapy and the susceptibility vessel sign (SVS) length and width on susceptibility-weighted imaging. METHODS: We retrospectively evaluated consecutive patients with anterior circulation ischemic stroke who underwent magnetic resonance imaging preceded endovascular therapy, and measured the SVS length and width. Successful recanalization was defined as expanded thrombolysis in cerebral infarction grade of 2b to 3. Logistic regression analysis was executed to determine the independent predictors of successful recanalization and first-pass reperfusion (FPR) after endovascular therapy. RESULTS: Among 100 patients, successful recanalization and FPR were observed in 77 and 34 patients, respectively. The median SVS length and width were 10.3 mm (interquartile range, 6.8-14.1 mm) and 4.2 mm (interquartile range, 3.1-5.2 mm), respectively. In multivariate logistic regression analysis, SVS width was associated with successful recanalization (odds ratio, 1.88; 95% confidence interval, 1.14-3.07; p = 0.005) and FPR (odds ratio, 1.38; 95% confidence interval, 1.01-1.89; p = 0.039). The optimal cutoff value for the SVS width to predict successful recanalization and FPR were 4.2 mm and 4.0 mm, respectively. CONCLUSIONS: Larger SVS width may predict successful recanalization and FPR following endovascular therapy.

Significance of Low Signal in Intracranial Vertebral Artery Wall Observed on Susceptibility-Weighted Angiography.

PURPOSE: We aimed to investigate the clinical significance of the low signal in the intracranial vertebral artery wall observed on susceptibility-weighted angiography. MATERIALS AND METHODS: We retrospectively reviewed susceptibility-weighted angiographies from 200 consecutive patients with acute ischemic stroke in the posterior circulation territory. The presence of eccentric or concentric low signals in the vertebral artery wall was examined and evaluated. The etiology of the low signal was also investigated as much as possible by referring to computed tomography and T1-weighted imaging (T1WI). We also compared its frequency in each stroke subtype. RESULTS: A low signal was observed in 128/200 patients (64%). The low signals (58%) corresponded to vessel wall calcification in 74 of 128 patients and to vessel wall thickening showing intermediate to low (n = 8) or high (n = 16) signals on T1WI in 24 (19%) patients. The low signal did not have vessel wall thickening or calcification in 1 patient, and the cause of the low signal could not be verified in 29 patients. According to stroke subtypes, a low signal was observed in 14/14 (100%) vertebral artery dissections, all of which corresponded to intramural hematoma. A low signal was observed in 51/65 (78%) atherothromboses, which were significantly more frequent than cardioembolism (34/66; 52%) and small-artery disease (18/39; 46%) (p < 0.01). In atherothrombosis, calcification was the most common cause of low signal (n = 32; 63%). CONCLUSION: Low signals on susceptibility-weighted angiography were frequently observed in vertebral artery dissection and atherothrombosis, reflecting intramural hematoma in all of the former and predominantly calcification in the latter.

Amide proton transfer MRI differentiates between progressive multifocal leukoencephalopathy and malignant brain tumors: a pilot study.

BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nerve system caused by the John Cunningham virus. On MRI, PML may sometimes appear similar to primary central nervous system lymphoma (PCNSL) and glioblastoma multiforme (GBM). The purpose of this pilot study was to evaluate the potential of amide proton transfer (APT) imaging for differentiating PML from PCNSL and GBM. METHODS: Patients with PML (n = 4; two men; mean age 52.3 ± 6.1 years), PCNSL (n = 7; four women; mean age 74.4 ± 5.8 years), or GBM (n = 11; 6 men; mean age 65.0 ± 15.2 years) who underwent APT-CEST MRI between January 2021 and September 2022 were retrospectively evaluated. Magnetization transfer ratio asymmetry (MTRasym) values were measured on APT imaging using a region of interest within the lesion. Receiver operating characteristics curve analysis was used to determine diagnostic cutoffs for MTRasym. RESULTS: The mean MTRasym values were 0.005 ± 0.005 in the PML group, 0.025 ± 0.005 in the PCNSL group, and 0.025 ± 0.009 in the GBM group. There were significant differences in MTRasym between PML and PCNSL (P = 0.023), and between PML and GBM (P = 0.015). For differentiating PML from PCNSL, an MTRasym threshold of 0.0165 gave diagnostic sensitivity, specificity, positive predictive value, and negative predictive value of 100% (all). For differentiating PML from GBM, an MTRasym threshold of 0.015 gave diagnostic sensitivity, specificity, positive predictive value, and negative predictive value of 100%, 90.9%, 80.0%, and 100%, respectively. CONCLUSION: MTRasym values obtained from APT imaging allowed patients with PML to be clearly discriminated from patients with PCNSL or GBM.

Quantitative Chemical Exchange Saturation Transfer Imaging of Amide Proton Transfer Differentiates between Cerebellopontine Angle Schwannoma and Meningioma: Preliminary Results.

Vestibular schwannomas are the most common tumor at the common cerebellopontine angle, followed by meningiomas. Differentiation of these tumors is critical because of the different surgical approaches required for treatment. Recent studies have demonstrated the utility of amide proton transfer (APT)-chemical exchange saturation transfer (CEST) imaging in evaluating malignant brain tumors. However, APT imaging has not been applied in benign tumors. Here, we explored the potential of APT in differentiating between schwannomas and meningiomas at the cerebellopontine angle. We retrospectively evaluated nine patients with schwannoma and nine patients with meningioma who underwent APT-CEST MRI from November 2020 to April 2022 pre-operation. All 18 tumors were histologically diagnosed. There was a significant difference in magnetization transfer ratio asymmetry (MTRasym) values (0.033 ± 0.012 vs. 0.021 ± 0.004; p = 0.007) between the schwannoma and meningioma groups. Receiver operative curve analysis showed that MTRasym values clearly differentiated between the schwannoma and meningioma groups. At an MTRasym value threshold of 0.024, the diagnostic sensitivity, specificity, positive predictive value, and negative predictive values for MTRasym were 88.9%, 77.8%, 80.0%, and 87.5%, respectively. Our results demonstrated the ability of MTRasym values on APT-CEST imaging to discriminate patients with schwannomas from patients with meningiomas.

A case of intracranial vasospasm in a patient with extensive retropharyngeal cellulitis.

Retropharyngeal cellulitis/abscesses are deep neck infections that may become life-threatening if airway compromise occurs. This condition is more common in children than in adults, and associated intracranial vessel narrowing has been reported. We report an adult patient with extensive retropharyngeal cellulitis and intracranial vasospasm. The patient was a 62-year-old woman who presented with fever, sore throat, and neck pain. She also had uncontrolled type 2 diabetes mellitus. Leukocytosis, prolonged erythrocyte sedimentation rate, elevated C-reactive protein, and hyperglycemia were present on admission. Computed tomography and contrast-enhanced magnetic resonance imaging revealed severe swelling in the nasopharyngeal, retropharyngeal, prevertebral, and bilateral carotid spaces. Gadolinium enhancement extended to the middle cranial fossa and visceral space. Multiple stenoses in several intracranial vessels was also identified. Intravenous antibiotic therapy was initiated, the patient's symptoms resolved, and repeat imaging confirmed improvement. Intracranial vasospasm should be considered in patients with retropharyngeal cellulitis.

Intravascular lipoma of the inferior vena cava and left renal vein.

Intravenous lipoma of the inferior vena cava is an incidental finding on contrast-enhanced computed tomography in 0.5% of individuals. We report a case of multiple intravenous lipomas discovered during diagnosis of cholangitis in a 39-year-old woman. Imaging revealed three fatty masses that appeared connected by cordlike structures: one in the left renal vein with wide mural attachment and two in the inferior vena cava, the higher of which was mobile. We hypothesize that these originated as a single lipoma that subsequently divided into three distinct masses. Because mobile masses may cause pulmonary thromboembolism, surgery is recommended in these cases.

Ruptured aneurysm-induced pituitary apoplexy: illustrative case.

BACKGROUND: Pituitary apoplexy associated with aneurysmal rupture is extremely rare and may be misdiagnosed as primary pituitary adenoma apoplexy. The authors present a case of a patient with pituitary apoplexy caused by rupture of an anterior cerebral artery aneurysm embedded within a giant pituitary adenoma, and they review the relevant literature. OBSERVATIONS: A 78-year-old man experienced sudden headache with progressive vision loss. Magnetic resonance imaging (MRI) revealed a giant pituitary tumor with abnormal signal intensity. Magnetic resonance angiography immediately before surgery showed a right A1 segment aneurysm, suggesting coexisting pituitary apoplexy and ruptured aneurysm. The patient underwent urgent transsphenoidal surgery for pituitary apoplexy. The tumor was partially removed, but the perianeurysmal component was left behind. Subsequent cerebral angiography showed a 5-mm right A1 aneurysm with a bleb that was successfully embolized with coils. Retrospective review of preoperative dynamic MRI showed extravasation of contrast medium from the ruptured aneurysm into the pituitary adenoma. Histopathologic examination showed gonadotroph adenoma with hemorrhagic necrosis. Postoperatively, the patient's visual function improved. LESSONS: MRI identification of pituitary apoplexy caused by aneurysmal rupture has not been reported previously. Aneurysmal rupture should be considered in the differential diagnosis of pituitary apoplexy. When a ruptured aneurysm is encountered, the authors recommend treating it before addressing pituitary apoplexy.

Primary intracranial aggressive fibromatosis arising in sella turcica: illustrative case.

BACKGROUND: Aggressive fibromatosis is a rare histologically benign but locally infiltrative myofibroblastic tumor. Primary intracranial aggressive fibromatosis (IAF) can exhibit a clinically malignant course. OBSERVATIONS: A 22-year-old otherwise healthy woman presented with left painful ophthalmoplegia. Magnetic resonance imaging (MRI) revealed a left sellar tumor with cavernous sinus invasion. Endoscopic transsphenoidal surgery was performed. The lesion could not be totally resected. An inflammatory myofibroblastic tumor was suspected, so steroid pulse therapy was introduced, but it was ineffective. The tumor recurred after a few months, and she complained of visual acuity loss, abducens nerve palsy, trigeminal neuralgia, and panhypopituitarism. The lesion was diagnosed as primary IAF by a pathological review. Gamma Knife radiosurgery was performed, and chemotherapies were introduced but ineffective. Her consciousness was disturbed, and MRI showed hypothalamic invasion of the tumor, occlusion and stenosis of carotid arteries, and cerebral stroke. Palliative care was introduced, and she died 32 months after the onset. The autopsy revealed tumor invasion to the cavernous sinus, optic nerve, hypothalamus, pituitary, and tonsillar herniation due to massive cerebral stroke. LESSONS: Radical resection can be impossible in patients with IAF. Radiotherapy and chemotherapy are not always effective for residual lesions. Adjuvant therapy for IAF remains to be explored.

Human immunodeficiency virus-associated vacuolar encephalomyelopathy with granulomatous-lymphocytic interstitial lung disease improved after antiretroviral therapy: a case report.

BACKGROUND: Vacuolar encephalomyelopathy, a disregarded diagnosis lately, was a major neurological disease in the terminal stages of human immunodeficiency virus (HIV)-1 infection in the pre-antiretroviral therapy (ART) era. Granulomatous-lymphocytic interstitial lung disease (GLILD) was classically identified as a non-infectious complication of common variable immunodeficiency; however, it is now being recognized in other immunodeficiency disorders. Here, we report the first case of GLILD accompanied by vacuolar encephalomyelopathy in a newly diagnosed HIV-infected man. CASE PRESENTATION: A 40-year-old Japanese man presented with chronic dry cough and progressing paraplegia. Radiological examination revealed diffuse pulmonary abnormalities in bilateral lungs, focal demyelinating lesions of the spinal cord, and white matter lesions in the brain. He was diagnosed with GLILD based on marked lymphocytosis detecting in bronchoalveolar lavage, and transbronchial-biopsy proven T-cellular interstitial lung disease with granulomas. Microbiological examinations did not reveal an etiologic agent. The patient was also diagnosed with HIV-associated vacuolar encephalomyelopathy on the basis of an elevated HIV viral load in cerebrospinal fluid. After initiating ART, the brain lesions and paraplegia improved significantly, and interstitial abnormalities of the lungs and cough disappeared. CONCLUSION: This report highlights that even in the post-ART era in developed countries with advanced healthcare services, HIV-associated vacuolar encephalomyelopathy should be considered in the differential diagnosis of a progressive neurological disorder during the first visit. Furthermore, GLILD may represent an HIV-associated pulmonary manifestation that can be treated by ART.

Quantitative Susceptibility Mapping for Carotid Atherosclerotic Plaques: A Pilot Study.

PURPOSE: Identifying plaque components such as intraplaque hemorrhage, lipid rich necrosis, and calcification is important to evaluate vulnerability of carotid atherosclerotic plaque; however, conventional vessel wall MR imaging may fail to discriminate plaque components. We aimed to evaluate the components of plaques using quantitative susceptibility mapping (QSM), a newly developed post-processing technique to provide voxel-based quantitative susceptibilities. METHODS: Seven patients scheduled for carotid endarterectomy were enrolled. Magnitude and phase images of five-echo 3D fast low angle shot (FLASH) were obtained using a 3T MRI, and QSM was calculated from the phase images. Conventional carotid vessel wall images (black-blood T1-weighted images [T1WI], T2-weighted images [T2WI], proton-density weighted images [PDWI], and time-of-flight images [TOF]) were also obtained. Pathological findings including intraplaque hemorrhage, calcification, and lipid rich necrosis at the thickest plaque section were correlated with relative susceptibility values with respect to the sternocleidomastoid muscle on QSM. On conventional vessel wall images, the contrast-noise ratio (CNR) between the three components and sternocleidomastoid muscle was measured respectively. Wilcoxon signed-rank test analyses were performed to assess the relative susceptibility values and CNR. RESULTS: Pathologically, lipid rich necrosis was proved in all of seven cases, and intraplaque hemorrhage in five of seven cases. Mean relative susceptibility value of hemorrhage was higher than lipid rich necrosis unexceptionally (P = 0.0313). There were no significant differences between CNR of hemorrhage and lipid rich necrosis on all sequences. In all six cases with plaque calcification, susceptibility value of calcification was significantly lower than lipid rich necrosis unexceptionally (P = 0.0156). There were significant differences between CNRs of lipid rich necrosis and calcification on T1WI, PDWI, TOF (P < 0.05). CONCLUSION: QSM of carotid plaque would provide a novel quantitative MRI contrast that enables reliable differentiation among intraplaque hemorrhage, lipid rich necrosis, and calcification, and be useful to identify vulnerable plaques.

[Middle Cerebral Artery Fenestration with M2 Fusion Detected during Aneurysm Clipping:A Case Report].

We report a unique case of middle cerebral artery fenestration with M2 fusion detected during an aneurysm clipping. A 72-year-old woman was diagnosed with an unruptured aneurysm of the right middle cerebral artery, and middle cerebral artery fenestration with M2 fusion was detected during the aneurysm clipping surgery. It was difficult to identify this unusual vascular anomaly before the surgery. Therefore, neurosurgeons should be cautious of such hidden vascular anomalies and be prepared for the possible complications during surgery.

Arterial Spin Labeling Magnetic Resonance Imaging Can Identify the Occlusion Site and Collateral Perfusion in Patients with Acute Ischemic Stroke: Comparison with Digital Subtraction Angiography.

BACKGROUND AND OBJECTIVES: Determining the occlusion site and collateral blood flow is important in acute ischemic stroke. The purpose of the current study was to test whether arterial spin labeling (ASL) magnetic resonance imaging (MRI) could be used to identify the occlusion site and collateral perfusion, using digital subtraction angiography (DSA) as a gold standard. METHOD: Data from 521 consecutive patients who presented with acute ischemic stroke at our institution from January 2012 to September 2014 were retrospectively reviewed. Image data were included in this study if: (1) the patient presented symptoms of acute ischemic stroke; (2) MRI was performed within 24 h of symptom onset; and (3) DSA following MRI was performed (n = 32 patients). We defined proximal intra-arterial sign (IAS) on ASL as enlarged circular or linear bright hyperintense signal within the occluded artery and distal IAS as enlarged circular or linear bright hyperintense signals within arteries inside or surrounding the affected region. The presence or absence of the proximal IAS and distal IAS were assessed, along with their inter-rater agreement and consistency with the presence of occlusion site and collateral flow on DSA images. RESULTS: The sensitivity and specificity for identifying occlusion site with ASL were 82.8 and 100%, respectively. Those for identifying collateral flow with ASL were 96.7 and 50%, respectively. The inter-rater reliability was excellent for proximal IAS (κ = 0.92; 95% CI 0.76-1.00) and substantial for distal IAS detection (κ = 0.78; 95% CI 0.38-1.00). CONCLUSIONS: Proximal IAS and distal IAS on ASL imaging can provide important diagnostic clues for the detection of arterial occlusion sites and collateral perfusion in patients with acute ischemic stroke.

Impact of Mechanical Thrombectomy Device on Thrombus Histology in Acute Embolic Stroke.

BACKGROUND: Although many studies have evaluated the retrieved thrombus to assess the cause of stroke after mechanical thrombectomy for acute large vessel occlusion, the results remain controversial. We investigated the hypothesis that histology of the retrieved thrombus is enhanced by mechanical thrombectomy devices. METHODS: Thrombi were collected from consecutive patients who had undergone endovascular mechanical recanalization for large intracranial vessel occlusion. The mechanical thrombectomy device used was either an aspiration catheter or a stent retriever. The hematoxylin and eosin-stained specimens were quantitatively analyzed with respect to the relative fractions of the main constituents (erythrocytes and fibrin). Clinical and radiologic findings were also evaluated. RESULTS: Of 65 patients, an aspiration catheter was used in 27, and a stent retriever was used in 38. The presence of a preoperative susceptibility vessel sign on magnetic resonance imaging was not correlated with the percentage of erythrocytes. Thrombus cross-sectional area was larger in the aspiration group than in the stent group (P < 0.01). Conversely, the percentage of the fibrin component was higher in the stent group (P < 0.001). Preoperative intravenous administration of recombinant tissue plasminogen activator reduced thrombus cross-sectional area with a trend of increased percentage of fibrin and reduced percentage of erythrocyte in the stent group. CONCLUSIONS: Histologic differences in retrieved thrombi are enhanced by mechanical thrombectomy devices. Stent retrievers may crush the thrombus, which may have a synergistic effect with recombinant tissue plasminogen activator. Histology of the retrieved thrombi might be different from histology of the original thrombi.

Impact of basal ganglia damage after successful endovascular recanalization for acute ischemic stroke involving lenticulostriate arteries.

OBJECTIVE: Regional ischemic vulnerability of the brain reportedly differs between the cortex and basal ganglia and has been poorly assessed in the setting of endovascular mechanical thrombectomy. This study was conducted to determine the fate of an ischemic basal ganglia and its contribution to the clinical outcome after successful endovascular recanalization for acute ischemic stroke with large vessel occlusion involving the lenticulostriate arteries. METHODS: Clinical and radiological findings were retrospectively analyzed in consecutive patients with acute ischemic stroke characterized by large vessel occlusion involving the lenticulostriate arteries. Mechanical thrombectomy was performed in all patients using a stent retriever. The fate of ischemic basal ganglia based on location (lentiform nucleus, caudate nucleus, and internal capsule) and insular cortex was assessed according to the Alberta Stroke Programme Early CT Score (ASPECTS). RESULTS: Of 170 patients with large intracranial vessel occlusion who achieved successful endovascular recanalization, defined as a thrombolysis in cerebral infarction grade of ≥ 2B, involvement of the lenticulostriate arteries was seen in 55 patients (internal carotid artery, n = 35; proximal middle cerebral artery, n = 20). Preoperative infarction was detected in the lentiform nucleus (66.7%), internal capsule (11.1%), and caudate nucleus (33.3%), all of which showed secondary advancement despite successful recanalization (85.4%, 27.3%, and 54.5%, respectively; p < 0.05). Lenticulostriate arteries with a lateral proximal and/or medial proximal origin significantly affected the development of mature infarction in the lentiform nucleus. Postoperative hemorrhagic transformation was detected in 25 of 55 patients, mostly in the lentiform nucleus. Involvement of insular ribbon infarction was significantly high in patients with hemorrhagic transformation in the basal ganglia. Age, initial National Institutes of Health Stroke Scale (NIHSS) score, initial ASPECTS, postoperative ASPECTS, postoperative infarction in the insular ribbon, and lesions in the middle cerebral artery area (M1-M6) were significantly different between patients with good and poor modified Rankin Scale scores. Interestingly, no differences were detected in postoperative infarction or hemorrhagic transformation in the basal ganglia. Multivariate analysis showed that only age (p = 0.02, OR 0.88) and the initial NIHSS score (p = 0.01, OR 0.86) independently affected favorable clinical outcomes. CONCLUSIONS: The basal ganglia are vulnerable and readily develop secondary infarction and hemorrhagic transformation despite successful recanalization. However, this does not have a significant impact on the clinical outcome of acute ischemic stroke with large vessel occlusion involving the lenticulostriate arteries.

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome. Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows. Magnetic resonance imaging delineated anterior pituitary hypoplasia, ectopic posterior pituitary, invisible pituitary stalk, thinning of the corpus callosum, and hypoplasia of the pons and midbrain. The phenotypically normal parents (first cousins) were heterozygous for the mutation. The results provide further evidence of ROBO1 being involved in the development of the pituitary gland. A recessive mutation of ROBO1 is a potential novel cause of a syndromic disorder associated with combined pituitary hormone deficiency.