森 墾

We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. A trio whole-exome sequence analysis identified a de novo heterozygous c.640A>C, p.Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.

In this article, we report the third case of chloride voltage-gated channel 2 (CLCN2)-related leukoencephalopathy (CC2L) in Japan. The patient presented with headache, vertigo, and mild visual impairment. The CLCN2 variant of the patient, NM_004366.6:c.61dup, p.(Leu21Profs*27), was also found in two other Japanese patients as this variant is relatively common in the Japanese population. Magnetic resonance imaging (MRI) revealed T2 prolongation with reduced diffusion in the bilateral posterior limbs of the internal capsule, cerebral peduncles, and superior and middle cerebellar peduncles. Magnetic resonance spectroscopy (MRS) of normal-appearing white matter revealed decreased choline content. This represents the first evidence of decreased choline levels in CC2L, highlighting the superior sensitivity of MRS over MRI.

PURPOSE: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. Magnetic resonance imaging (MRI) is performed to investigate the cause of primary amenorrhea. However, the MRI features are also similar in both disorders. They are ultimately diagnosed by chromosome testing, but there is a possibility of misdiagnosis if chromosome testing is not performed. This study aimed to identify MRI features that are useful for differentiating CAIS from MRKHS. METHOD: This multicenter retrospective study included 12 patients with CAIS and 19 patients with MRKHS. Three radiologists blindly evaluated the following features: (1) detection of vagina, (2) detection of nodular and cystic structures in the lateral pelvis; undescended testicles and paratesticular cysts in CAIS and rudimentary uteri and ovaries in MRKHS, (3) their location, (4) number of cysts in the cystic structures, and (5) signal intensity on diffusion-weighted images (DWI) and apparent diffusion coefficient (ADC) values of the nodular structures. Statistical comparisons were performed using Mann-Whitney U and Fisher's exact tests. RESULTS: Compared with MRKHS, the CAIS group showed significantly detectable vagina, more ventrally located nodular and cystic structures, fewer cysts within the cystic structures, and nodular structures with higher signal intensity on DWI and lower ADC values. CONCLUSIONS: MRI features of detectable vagina, location of nodular and cystic structures, number of cysts within the cystic structures, signal intensity on DWI and ADC values of the nodular structures were useful in differentiating CAIS from MRKHS.

PURPOSE: This study aimed to clarify associations between subacute hematoma on placental magnetic resonance imaging (MRI), antenatal bleeding, and preterm deliveries in patients with placenta previa (PP) without placenta accreta spectrum (PAS). MATERIALS AND METHODS: This retrospective study investigated 78 consecutive patients with PP (median age, 34.5 years; interquartile range [IQR], 31-37 years) who underwent placental MRI in the third trimester. Patients with PAS detected intraoperatively or pathologically were excluded. Two radiologists evaluated the presence of subacute hematomas and their locations on placental MRI. We examined associations between presence of subacute hematoma and antenatal bleeding, emergency cesarean section (CS), hysterectomy, gestational age (GA) at delivery, birth weight, and amount of blood loss at CS. We also examined the association between perinatal outcome and subacute hematoma location: marginal, retro-placental, or intra-placental. Inter-observer agreement for the detection of subacute hematoma was calculated using kappa analysis. RESULTS: Subacute hematomas were identified on MRI in 39 of the 78 patients (50.0%). Antenatal bleeding and emergency CS were more prevalent in patients with subacute hematoma on MRI (20 patients [51.3%] and 18 patients [46.2%], respectively) than in patients without (7 patients [17.9%], Fisher's exact test, p = 0.004 and 7 patients [17.9%], p = 0.014, respectively). GA at delivery was significantly lower in patients with subacute hematoma (median 36w3d, IQR 35w4d-37w1d) than in patients without (median 37w1d, IQR 36w4d-37w2d; Mann-Whitney test: p = 0.048). Marginal hematoma was significantly associated with antenatal bleeding and emergency CS. Inter-observer agreement for the presence of subacute hematoma was moderate (κ = 0.573). CONCLUSION: Subacute hematoma on placental MRI was associated with antenatal bleeding, emergency CS and shorter GA at delivery in patients with PP. Marginal hematoma was also associated with antenatal bleeding and emergency CS. Placental MRI appears useful for predicting antenatal bleeding and preterm delivery in patients with PP.

To generate synthetic medical data incorporating image-tabular hybrid data by merging an image encoding/decoding model with a table-compatible generative model and assess their utility. We used 1342 cases from the Stony Brook University Covid-19-positive cases, comprising chest X-ray radiographs (CXRs) and tabular clinical data as a private dataset (pDS). We generated a synthetic dataset (sDS) through the following steps: (I) dimensionally reducing CXRs in the pDS using a pretrained encoder of the auto-encoding generative adversarial networks (αGAN) and integrating them with the correspondent tabular clinical data; (II) training the conditional tabular GAN (CTGAN) on this combined data to generate synthetic records, encompassing encoded image features and clinical data; and (III) reconstructing synthetic images from these encoded image features in the sDS using a pretrained decoder of the αGAN. The utility of sDS was assessed by the performance of the prediction models for patient outcomes (deceased or discharged). For the pDS test set, the area under the receiver operating characteristic (AUC) curve was calculated to compare the performance of prediction models trained separately with pDS, sDS, or a combination of both. We created an sDS comprising CXRs with a resolution of 256 × 256 pixels and tabular data containing 13 variables. The AUC for the outcome was 0.83 when the model was trained with the pDS, 0.74 with the sDS, and 0.87 when combining pDS and sDS for training. Our method is effective for generating synthetic records consisting of both images and tabular clinical data.

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of serum copper and ceruloplasmin. While heterozygous deletion of exons 16 and 17 of the ATP7A gene was detected in the proband, her mother, and her grandmother, only the proband suffered from Menkes disease clinically. Intriguingly, X chromosome inactivation (XCI) analysis demonstrated that the grandmother and the mother showed skewing of XCI toward the allele with the ATP7A deletion and that the proband had extremely skewed XCI toward the normal allele, resulting in exclusive expression of the pathogenic ATP7A mRNA transcripts. Expression bias analysis and recombination mapping of the X chromosome by the combination of whole genome and RNA sequencing demonstrated that meiotic recombination occurred at Xp21-p22 and Xq26-q28. Assuming that a genetic factor on the X chromosome enhanced or suppressed XCI of its allele, the factor must be on either of the two distal regions derived from her grandfather. Although we were unable to fully uncover the molecular mechanism, we concluded that unfavorable switching of skewed XCI caused Menkes disease in the proband.

This study aimed to explore the relationship between thyroid-stimulating hormone (TSH) elevation and the baseline computed tomography (CT) density and volume of the thyroid. We examined 86 cases with new-onset hypothyroidism (TSH > 4.5 IU/mL) and 1071 controls from a medical check-up database over 5 years. A deep learning-based thyroid segmentation method was used to assess CT density and volume. Statistical tests and logistic regression were employed to determine differences and odds ratios. Initially, the case group showed a higher CT density (89.8 vs. 81.7 Hounsfield units (HUs)) and smaller volume (13.0 vs. 15.3 mL) than those in the control group. For every +10 HU in CT density and −3 mL in volume, the odds of developing hypothyroidism increased by 1.40 and 1.35, respectively. Over the course of the study, the case group showed a notable CT density reduction (median: −8.9 HU), whereas the control group had a minor decrease (−2.9 HU). Thyroid volume remained relatively stable for both groups. Higher CT density and smaller thyroid volume at baseline are correlated with future TSH elevation. Over time, there was a substantial and minor decrease in CT density in the case and control groups, respectively. Thyroid volumes remained consistent in both cohorts.

Lymphoepithelial carcinoma (LEC) is an uncommon neoplasm strongly associated with Epstein-Barr virus (EBV). LEC of the salivary glands (LECSG) is very rare: the most commonly affected site is the parotid gland, followed by the submandibular gland. This report describes the case of a 58-year-old man who presented with a left submandibular mass that had gradually increased in size over five years. On magnetic resonance imaging (MRI), the mass showed low apparent diffusion coefficient (ADC) values, rapid initial enhancement before reaching a plateau on dynamic contrast-enhanced MRI (DCE-MRI), and internal septal-like enhancement. Histopathologically, the tumor comprised polygonal or round tumor cells with atypical or pleomorphic nuclei and numerous lymphocytes, separated by heavy fibrosis. Immunohistological findings were positive for AE/AE3, CD20, and EBV-encoded small RNA in situ hybridization (EBER-ISH), consistent with LEC. A low ADC value with rapid initial enhancement before reaching a plateau on DCE-MRI was thought to reflect abundant cellular components with tumor neoangiogenesis, whereas internal septal-like enhancement reflects separating heavy fibrosis. To the best of our knowledge, this is the first case report describing ADC value and DCE-MRI findings of LECSG, and these findings can be considered characteristic MRI findings of LECSG.

Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases are sporadic, with age-related and hypertension-related sSVD and cerebral amyloid angiopathy being the most prevalent forms. Monogenic cSVD accounts for up to 5% of causes of stroke. Several causative genes have been identified. Sporadic cSVD has been widely studied whereas monogenic cSVD is still poorly characterized and understood. The majority of cases of both the sporadic and monogenic types, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), typically have their onset in adulthood. Types of cSVD with infantile and childhood onset are rare, and their diagnosis is often challenging. The present review discusses the clinical and neuroimaging findings of monogenic cSVD from the prenatal to adolescent period of development. Early diagnosis is crucial to enabling timely interventions and family counseling.

Pulmonary vein stenosis (PVS) is a serious complication of catheter ablation (CA) for atrial fibrillation (AF). PVS generally occurs several months after CA and presents with non-specific symptoms and imaging findings. There have been reports of delayed diagnoses due to a misdiagnosis as infection, interstitial pneumonia, or organizing pneumonia. We introduced six cases of PVS after CA, all of which showed narrowing of the unilateral pulmonary vessels with or without lobar volume loss in the left lung on unenhanced computed tomography. We report these findings as important results indicating the possibility of PVS after CA for AF and contributing to the early diagnosis and management of PVS.

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition characterized by reversible vasogenic edema of the white matter and acute neurological symptoms. PRES typically affects the parieto-occipital regions but rarely affects the optic pathway. Herein, we describe a case of central-variant PRES in a 57-year-old man with abnormal signal intensities in the optic pathway on magnetic resonance imaging (MRI). The patient underwent hemodialysis, initiated diuretics and antihypertensive medications, and the abnormal signal intensities of the brainstem and optic pathway on MRI improved. Although rare, PRES can affect the optic pathway, thus suggesting the possibility of fragility of the optic pathway itself to hyperperfusion.

Background/Aim: Accelerated hyperfractionation (AHF) is used in head and neck cancer to improve the local control (LC) rate, but reports of outcomes for early-stage GC are limited. The outcomes of radiotherapy (RT) for stage 1 glottic carcinoma (GC) were retrospectively analyzed, comparing AHF and once-daily fractionation (ODF) using 2.0-2.4 Gy. Patients and Methods: A total of 102 patients with stage 1 GC underwent RT alone between 2007 and 2021, with 43 in the AHF group and 59 in the ODF group. A p-value less than 0.05 was considered to indicate a significant difference. Results: The 5-year LC rate was 98% in the AHF group and 91% in the ODF group (p=0.19). During RT, significantly more patients in the AHF group required opioids due to mucositis than in the ODF group (74% vs. 25%, p<0.001), and the rate of aspiration pneumonia tended to be higher in the AHF group than in the ODF group (7% vs. 0%, p=0.072). Conclusion: There was no difference in the LC rate between AHF and ODF for stage 1 GC. Moreover, the AHF group required opioids at a higher rate and tended to have a higher risk of developing aspiration pneumonia.

Chordomas are rare, locally aggressive, primary bone tumors derived from primitive notochord remnants. They almost always arise within the axial skeleton, particularly in the skull base and the sacrococcygeal region. They usually present as extradural tumors, but rarely, they present as entirely intradural tumors. This report describes a case of intradural chordoma that mimicked an epidermoid cyst. A 72-year-old woman was incidentally found to have a prepontine extra-axial mass on magnetic resonance imaging. The mass gradually increased in size, and she felt discomfort in the right cheek area. The mass showed similar signal intensity to cerebrospinal fluid on T1-weighted images and T2-weighted images, but high signal intensity on fluid-attenuated inversion recovery images and diffusion-weighted images. Because the presence of very faint contrast enhancement was not noticed, the mass was preoperatively diagnosed as an epidermoid cyst. Tumor resection was performed, and the histopathological diagnosis was chondroid chordoma. Since intradural chordoma may resemble an epidermoid cyst on imaging, radiologists should check carefully for the presence of contrast enhancement and suggest the possibility of intradural chordoma.

OBJECTIVE: Adrenoleukodystrophy (ALD) has a poor prognosis when it progresses to the cerebral form (CALD). The aim of this study is to investigate whether cerebrospinal fluid (CSF) neurofilament light chain (cNfL) is a sensitive biomarker for detecting CALD and assessing response to hematopoietic stem cell transplantation (HSCT). METHODS: We conducted a cross-sectional study of 41 male ALD patients. The cNfL levels in patients with the cerebral form of ALD (CALD) or the cerebello-brainstem form of ALD were compared with those in patients with adrenomyeloneuropathy (AMN). The correlation between cNfL levels and MRI-based Loes severity scores was investigated. A longitudinal analysis was performed on patients who underwent multiple CSF examinations. RESULTS: The cNfL levels in 22 patients with CALD were significantly higher than those in 14 patients with AMN (median, 5545 vs. 1490 pg/mL; p < 0.001). The cutoff cNfL level of 1930 pg/mL showed good sensitivity (95.5%) and specificity (85.7%) for distinguishing CALD from AMN. The cNfL levels were positively correlated with Loes scores (p < 0.001). The cNfL levels in three AMN patients who later converted to CALD increased above the cutoff level during the conversion period, while the cNfL levels in four patients who remained in AMN were consistently below the cutoff. In 10 ALD patients who underwent HSCT, their cNfL levels decreased 3-24 months after HSCT. Two patients whose cNfL increased after HSCT showed deterioration in cognitive functions. INTERPRETATION: The cNfL level is useful for evaluating the disease activities of ALD and the response to HSCT.

BACKGROUND: Late-onset Krabbe disease is a disorder with autosomal recessive inheritance caused by a deficiency in galactocerebrosidase (GALC) activity. Its late-onset form usually shows slow disease progression with atypical symptoms including spastic paresis. The efficacy of hematopoietic stem cell transplantation (HSCT) in late-onset Krabbe disease has not been fully established. CASE REPORT: We describe the case of a patient with late-onset Krabbe disease showing progressive spastic paraparesis. At the age of 18, one and a half years after the development of symptoms, the patient underwent HSCT. After HSCT, the patient's GALC activity returned to a normal level and the lesions in the brain and spinal cord became faint on images. Over two and a half years after the HSCT, the patient's gait remained spastic, however, an improvement in gait speed and modified Rankin Scale score was observed. No severe adverse events occurred during this period. CONCLUSION: Our experience reported herein provides additional evidence for a favorable course in HSCT conducted in the early course of late-onset Krabbe disease.

Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic disorders, individual cases are rare, and their diagnosis is often challenging. However, early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurological impairment or death. The clinical course of IEMs is very diverse, with some diseases progressing to acute encephalopathy following infection or fasting while others lead to subacute or slowly progressive encephalopathy. The diagnosis of IEMs relies on biochemical and genetic tests, but neuroimaging studies also provide important clues to the correct diagnosis and enable the conditions to be distinguished from other, more common causes of encephalopathy, such as hypoxia-ischemia. Proton magnetic resonance spectroscopy (1H-MRS) is a powerful, non-invasive method of assessing neurological abnormalities at the microscopic level and can measure in vivo brain metabolites. The present review discusses neuroimaging findings, including those of 1H-MRS, of IEMs focusing on intoxication disorders such as urea cycle disorders, aminoacidopathies, and organic acidopathies, which can result in acute life-threatening metabolic decompensation or crisis.

QUAD SHOT is an ultra-hypofractionated radiotherapy (RT) technique that prescribes 14.0-14.8 Gy over 2 days. Although this technique has already gained some status as an effective palliative treatment for inoperable head and neck cancer (HNC), its application in other situations has not been given much consideration. Herein, we report a case of a 62-year-old woman who received preoperative QUAD SHOT therapy for poorly differentiated parotid carcinoma. In this case, after two courses of QUAD SHOT plus a standard chemotherapy regimen with pembrolizumab, the patient's inoperable, bulky tumor shrank dramatically and became operable. Best of all, while adequate therapeutic effects were achieved, the patient's time commitment and physical exertion were limited. RT during this period consisted of only eight fractions over 4 days. According to previous reports, the response rate for QUAD SHOT is sufficiently high, and the rate of serious adverse events is quite low. This case asks the question of whether the indications for QUAD SHOT irradiation can be expanded as one of the preoperative interventions undertaken by HNC surgeons to achieve conversion surgery.

OBJECTIVE: To determine a standardized cutoff value for abnormal 18F-fluorodeoxyglucose (FDG) accumulation in the thyroid gland. METHODS: Herein, 7013 FDG-positron emission tomography (PET)/computed tomography (CT) scans were included. An automatic thyroid segmentation method using two U-nets (2D- and 3D-U-net) was constructed; mean FDG standardized uptake value (SUV), CT value, and volume of the thyroid gland were obtained from each participant. The values were categorized by thyroid function into three groups based on serum thyroid stimulating hormone levels. Thyroid function and mean SUV with increments of 1 were analyzed, and risk for thyroid dysfunction was calculated. Thyroid dysfunction detection ability was examined using a machine learning method (Lightgbm) with age, sex, height, weight, CT value, volume, and mean SUV as explanatory variables. RESULTS: Mean SUV was significantly higher in females with hypothyroidism. Almost 98.9% of participants in the normal group had mean SUV <2 and 93.8% participants with mean SUV <2 had normal thyroid function. The hypothyroidism group had more cases with mean SUV ≥2. The relative risk of having abnormal thyroid function was 4.6 with mean SUV ≥2. The sensitivity and specificity for detecting thyroid dysfunction using Lightgbm were 14.5% and 99%, respectively. CONCLUSIONS: Mean SUV ≥2 was strongly associated with abnormal thyroid function in this large cohort, indicating that mean SUV with FDG-PET/CT can be used as a criterion for thyroid evaluation. Preliminarily, this study shows the potential utility of detecting thyroid dysfunction based on imaging findings.

Since the launch of imatinib in 2001, tyrosine kinase inhibitors are being used in chemotherapy for a wide range of malignant tumors. Drugs that inactivate multiple molecular mechanisms are called multikinase inhibitors (MKIs). Nintedanib is a type of MKI that inhibits downstream cascades in three systems: vascular endothelial growth factor receptor, fibroblast growth factor receptor, and platelet-derived growth factor receptor inhibitions. It was initially developed as an anticancer drug for non-small-cell lung carcinoma; however, it was also found to inhibit the proliferation of fibroblasts associated with chronic inflammation in the lungs. Therefore, it is being more widely used to treat idiopathic pulmonary fibrosis, a benign disease, than as an antineoplastic agent. Several studies have reported adverse events associated with the concurrent use of MKIs with surgery or radiotherapy. Specifically, there has been a report cautioning against delayed wound healing associated with the use of nintedanib in patients undergoing surgery. However, there is no specific mention of its concurrent use during irradiation. We describe a case of a 72-year-old man with severely delayed recovery from radiation mucositis when nintedanib was being administered for benign disease.

Decidualization can originate in ovarian endometrioma by elevated serum progesterone levels during pregnancy, which mimics malignancy on ultrasonography. Moreover, decidualized ovarian endometrioma may rupture and cause acute abdominal pain during pregnancy. Magnetic resonance imaging (MRI) is reportedly useful in differentiating decidualized ovarian endometriomas from malignancies. However, to our knowledge, serial MRI of decidualized ovarian endometrioma before and after rupture has not been reported. Herein, we report the case of a 39-year-old woman with a ruptured decidualized ovarian endometrioma in which serial MRI was useful for adequate management. She had a history of right ovarian endometrioma. Transvaginal ultrasonography at 20 weeks of gestation showed the known right ovarian endometrioma with mural nodules that were not evident before pregnancy. MRI for further evaluation showed ovarian endometrioma with mural nodules with signals similar to those of the placenta. Based on the MRI findings, we diagnosed a decidualized ovarian endometrioma. At 27 weeks of gestation, she complained of sudden abdominal pain, for which MRI was performed. MRI showed disappearance of the ovarian endometrioma and bloody ascites, based on which we diagnosed a ruptured ovarian endometrioma. The abdominal pain subsided immediately, and a conservative observational treatment approach was taken. At 37 weeks of gestation, right ovarian cystectomy was performed simultaneously with an elective cesarean section, which revealed a ruptured decidualized ovarian endometrioma. Our findings demonstrate that the accurate diagnosis of a ruptured decidualized ovarian endometrioma on serial MRI can contribute to its management.

Ectopic adrenocortical tissue can arise along the path of embryonic migration, such as the celiac axis, broad ligament, adnexa of the testis, and spermatic cord. Occasionally, ectopic adrenocortical tissues undergo marked hyperplasia and develop into ectopic adrenocortical adenomas. This report describes the case of a 60-year-old man who was incidentally found to have a lipid-containing mass with early enhancement and delayed washout in the right renal hilum. A renal cell carcinoma was suspected, and robot-assisted partial nephrectomy was performed, but the final diagnosis was an ectopic adrenocortical adenoma. We should include ectopic adrenocortical adenoma in the differential diagnosis when we find a lipid-containing tumor adjacent to the kidney.

<title>Abstract</title>We describe two patients with <italic>NSD1</italic> deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with <italic>NSD1</italic> deletion.

We herein report a 70-year-old man diagnosed with IgG4-related hypertrophic pachymeningitis with skull base involvement, who presented with isolated glossopharyngeal and vagus nerve palsy. Contrast-enhanced magnetic resonance imaging (MRI) showed enhanced dural thickening of the posterior clivus and skull base involvement. When a patient with hypertrophic pachymeningitis presents with isolated cranial neuropathy without systemic manifestations or definite MRI abnormalities, it is difficult to make a diagnosis, and the patient may be misdiagnosed. This case suggests that a detailed radiological evaluation including contrast enhancement of the skull base is very important in patients with isolated glossopharyngeal and vagus nerve palsy.

OBJECTIVE: To summarize the neurophysiological properties of acute flaccid myelitis (AFM) and evaluate limb-based motor outcomes. METHODS: Nerve conduction studies (NCS) in 49 patients (21 females, 28 males; median age = 52 m) with AFM (median = 7 d after onset; range 1-122 d) were reviewed. Neurophysiological findings, together with treatment and prognosis, and neurophysiology-neuroimaging correlations were analyzed. RESULTS: The findings indicated that 64% of paralytic limbs during the acute stage (≤14 d after onset) showed diminished or absent compound muscle action potentials (CMAPs), 79% showed normal motor nerve conduction velocities, 55% showed decreased persistence or absent F-waves, and 95% showed normal sensory nerve conduction velocities. The rate of CMAP abnormalities increased from 41% on days 1-2 to 83% on days 13-14. The reduction in CMAP amplitude was correlated with weaker muscle strength at both the peak neurological deficit and the last follow-up. The baseline limb-based muscle strength at nadir and anterior horn-localized magnetic resonance imaging lesions at recovery stage (>14 d) were strong predictors of outcome at the last follow-up. CONCLUSIONS: AFM typically shows neurophysiological features of neuronopathy. SIGNIFICANCE: NCS is probably useful in the diagnosis and evaluation of AFM.

BACKGROUND: We summarize the long-term motor outcome and disability level in a cluster of pediatric patients with acute flaccid myelitis (AFM) associated with the enterovirus D68 outbreak in 2015. METHODS: This is a nationwide follow-up questionnaire analysis study. Clinical data including the motor function (manual muscle strength test) and other neurological symptoms were collected at the acute (nadir), recovery (six months), and chronic (three years) stages. We use the Barthel index, which measures 10 variables describing activity of daily living and mobility to assess the disability level. RESULTS: Clinical data of 33 patients with AFM (13 females, 20 males; median age = 4.1 years) were available. Among patients with tetraplegia or triplegia, paraplegia, and monoplegia at the acute stage, two of seven, four of thirteen, and two of thirteen exhibited complete recovery without paralysis; of those five of seven, eight of thirteen, and two of thirteen showed improvement with lesser limb involvement at the chronic stage, respectively. Nine patients (27%) demonstrated improvement at the recovery-to-chronic period. All six patients with positive isolation of enterovirus D68 from biological samples at the acute stage showed persistent motor deficits. Other neurological findings had better prognosis than motor weakness. Better Barthel index score at the chronic stage was observed (P < 0.001; median difference [95% confidence interval], 53 [40 to 63]), implying an improved disability level even in patients with persistent motor deficits. CONCLUSIONS: AFM has a high rate of persistent motor deficits showing one- to two-limb paralysis. Disability level of patients with AFM, however, generally improved at the three-year time point.

Background: In autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy, brain magnetic resonance imaging (MRI) shows no abnormal findings in many cases, which attributes to misdiagnoses. To our knowledge, magnetic resonance spectroscopy (MRS) findings have never been reported for autoimmune GFAP astrocytopathy. Case presentation: A 17-year-old girl presented with impaired consciousness and delirium her cerebrospinal fluid was positive for Epstein–Barr virus. Reduced diffusion in the splenium of the corpus callosum on brain MRI led to a tentative diagnosis of mild encephalitis/encephalopathy with a reversible splenial lesion. On repeatedly carrying out brain MRI, new lesions characteristic of autoimmune GFAP astrocytopathy were identified. MRS showed a low concentration of myo-inositol, an astrocyte-specific marker. Intravenous methylprednisolone gradually resolved the patient’s symptoms, while the MRS findings were normalized as her symptoms resolved. Anti-GFAP antibody was positive in the patient’s cerebrospinal fluid. Conclusions: The MRI findings characteristic of autoimmune GFAP astrocytopathy might not be present at the illness onset when triggered by Epstein–Barr virus reactivation. Our results suggest that MRS might show astrocytic dysfunction and be useful in evaluating treatment progress.

Introduction: Kawasaki disease (KD) is an acute systemic vasculitis in children, but 0.4% of patients with KD exhibit central nervous system involvement. Acute encephalitis and encephalopathy accompanied with KD have been reported to be mostly self-limiting complications. Case Presentation: A 2-year-old girl developed recurrent vomiting, a cluster of generalized seizures, and decreased consciousness on day 12 after the onset of KD. Magnetic resonance imaging (MRI) T2-weighted images on day 13 showed high signal intensities in bilaterally symmetrical and subcortical white matter and thalamus, and linear radial hyperintensities parallel to the cerebral vessels of the periventricular white matter. Diffuse white matter hyperintensity on the apparent diffusion coefficient map suggested vasogenic edema. Subsequently, lethal cerebral edema rapidly progressed in 8 hrs after the MRI examination. Conclusion: To our knowledge, acute fulminant cerebral edema in patients with KD has not been previously reported. We should be aware of the possibility of severe encephalitis related to KD. Furthermore, diffuse white matter vasogenic edema with perivascular abnormalities on MRI may be an alerm, potentially leading to fatal cerebral edema.

BACKGROUND: The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported. CASE REPORTS: Two patients with persistent falcine and occipital sinuses are described. Both patients had straight sinuses. In one, both the transverse and sigmoid sinuses were hypoplastic and the patient had an acquired Chiari I malformation. The other patient had no other venous anomalies and had a normal posterior cranial fossa. CONCLUSION: The coexistence of falcine and occipital sinuses can lead to an acquired Chiari I malformation. These cases suggest the importance of checking other venous and brain anomalies in this situation.

BACKGROUND AND PURPOSE: Recent studies suggest that the autoantibodies against adrenergic/muscarinic receptors might be one of the causes and potential markers of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). The purpose of this study was to investigate the structural network changes related to autoantibody titers against adrenergic/muscarinic receptors in ME/CFS by performing a single-subject gray matter similarity-based structural network analysis. METHODS: We prospectively examined 89 consecutive right-handed ME/CFS patients who underwent both brain MRI including 3D T1-wighted images and a blood analysis of autoantibodies titers against β1 adrenergic receptor (β1 AdR-Ab), β2 AdR-Ab, M3 acetylcholine receptor (M3 AchR-Ab), and M4 AchR-Ab. Single-subject gray matter similarity-based structural networks were extracted from segmented gray matter images for each patient. We calculated local network properties (betweenness centrality, clustering coefficient, and characteristic path length) and global network properties (normalized path length λ, normalized clustering coefficient γ, and small-world network value δ). We investigated the correlations between the autoantibody titers and regional gray matter/white matter volumes, the local network properties, and the global network properties. RESULTS: Betweenness centrality showed a significant positive correlation with β1-AdR-Ab in the right dorsolateral prefrontal cortex. The characteristic path length showed a significant negative correlation with β2-AdR-Ab in the right precentral gyrus. There were no significant correlations between the antibody titers and the regional gray matter/white matter volumes, and the global network properties. CONCLUSIONS: Our findings suggest that β1 AdR-Ab and β2 AdR-Ab are potential markers of ME/CFS.

This study aimed to evaluate the visualization of peripheral bronchioles in normal lungs via quarter-detector computed tomography (QDCT). Visualization of bronchioles within 10 mm from the pleura is considered a sign of bronchiectasis. However, it is not known peripheral bronchioles how close to the pleura in normal lungs can be tracked using QDCT. This study included 228 parts in 76 lungs from 38 consecutive patients who underwent QDCT. Reconstruction was performed with different thicknesses, increments, and matrix sizes: 0.5-mm thickness and increment with 512 and 1024 matrixes (Group5 and Group10, respectively) and 0.25-mm thickness and increment with 1024 matrix (Group10Thin). The distance between the most peripheral bronchiole visible and the pleura was determined in the three groups. The distance between the peripheral bronchial duct ends and the nearest pleural surface were significantly shorter in the order of Group10Thin, Group10, and Group5, and the mean distances from the pleura in Group10Thin and Group10 were shorter than 10 mm. These findings suggest the visualization of peripheral bronchioles in QDCT was better with a 1024 axial matrix than with a 512 matrix, and with a 0.25-mm slice thickness/increment than with a 0.5-mm slice thickness/increment. Our study also indicates bronchioles within 10 mm of the pleura do not necessarily indicate pathology.

BACKGROUND AND PURPOSE: Hypophysitis is one of the well-known adverse effects of immune checkpoint inhibitors. Immune checkpoint inhibitor-induced hypophysitis frequently causes irreversible hypopituitarism, which requires long-term hormone replacement. Despite the high frequency and clinical significance, characteristic MR imaging findings of immune checkpoint inhibitor-induced hypophysitis have not been established. In the present study, we aimed to review and extract the MR imaging features of immune checkpoint inhibitor-induced hypophysitis. MATERIALS AND METHODS: This retrospective international multicenter study comprised 20 patients with melanoma who were being treated with immune checkpoint inhibitors and clinically diagnosed with immune checkpoint inhibitor-induced hypophysitis. Three radiologists evaluated the following MR imaging findings: enlargement of the pituitary gland and stalk; homogeneity of enhancement of the pituitary gland; presence/absence of a well-defined poorly enhanced area and, if present, its location, shape, and signal intensity in T2WI; and enhancement pattern in contrast-enhanced dynamic MR imaging. Clinical symptoms and hormone levels were also recorded. RESULTS: Enlargement of the pituitary gland and stalk was observed in 12 and 20 patients, respectively. Nineteen patients showed poorly enhanced lesions (geographic hypoenhancing lesions) in the anterior lobe, and 11 of these lesions showed hypointensity on T2WI. Thyrotropin deficiency and corticotropin deficiency were observed in 19/20 and 12/17 patients, respectively, which persisted in 12/19 and 10/12 patients, respectively, throughout the study period. CONCLUSIONS: Pituitary geographic hypoenhancing lesions in the anterior lobe of the pituitary gland are characteristic and frequent MR imaging findings of immune checkpoint inhibitor-induced hypophysitis. They reflect fibrosis and are useful in distinguishing immune checkpoint inhibitor-induced hypophysitis from other types of hypophysitis/tumors.

OBJECTIVES: To compare CT findings of early (within 3 weeks post-onset)- and later (within 1 month before or after diagnostic criteria were satisfied, and later than 3 weeks post-onset) stage thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly (TAFRO) syndrome. METHODS: Between 2014 and 2019, 13 patients with TAFRO syndrome (8 men and 5 women; mean age, 54.9 years) from nine hospitals were enrolled. The number of the following CT findings (CT factors) was recorded: the presence of anasarca, organomegaly, adrenal ischaemia, anterior mediastinal lesion, bony lesion, and lymphadenopathy. Records of adrenal disorders (adrenomegaly, ischaemia, and haemorrhage) throughout the disease course were also collected. Differences in CT factors at each stage were statistically compared between remission and deceased groups. RESULTS: Para-aortic oedema and mild lymphadenopathy were observed in all patients, whereas pleural effusion, ascites, and subcutaneous oedema were found in 5/13, 7/13, and 7/13 cases, respectively, at the early stage. CT factors at the early stage were significantly higher in the deceased than in the remission group (mean, 11 vs 6.5; p = 0.04), while they were nonsignificant at the later stage. Adrenal disorders were present in 7/13 cases throughout the course including 6 of adrenomegaly and 4 of ischaemia at the early stage. CONCLUSIONS: Para-aortic oedema and mild lymphadenopathy are most common at the early stage. Anasarca, organomegaly, lymphadenopathy, and adrenal disorders on early-stage CT are useful for unfavourable prognosis prediction. Moreover, adrenal disorders are frequent even at the early stage and are useful for early diagnosis of TAFRO syndrome. KEY POINTS: • CT findings facilitate early diagnosis and prognosis prediction in TAFRO syndrome. • Adrenal disorders are frequently observed in TAFRO syndrome. • Adrenal disorders are useful for differential diagnosis of TAFRO syndrome.

This pilot study tests the feasibility of rapid carotid MR angiography using the liver acquisition with volume acceleration-flex technique (LAVA MRA). Seven healthy volunteers and 21 consecutive patients suspected of carotid stenosis underwent LAVA and conventional time-of-flight (cTOF) MRAs. Artery-to-fat and artery-to-muscle signal intensity ratios were manually measured. LAVA MRA exhibited a significantly larger artery-to-fat signal intensity ratio compared with cTOF MRA in all slices (P < 0.001) and exhibited a larger (P < 0.001) or equivalent (P = 1.0) artery-to-muscle signal intensity ratio in the extracranial carotid arteries. The image quality of the cervical carotid bifurcation and the signal change on each MRA were visually assessed and compared among the MRAs. There was no significant difference between the two MRAs in visual assessment. LAVA MRA can provide visualization similar to cTOF MRA in the evaluation of the cervical carotid bifurcation while reducing scan time by one-fifth.

Genital arteriovenous malformations are rare and present unique surgical challenges in preserving urogenital function, abdominal wall integrity, and lower limb perfusion. A 32-year-old man with a giant abdominoscrotal arteriovenous malformation presented with recurrent heavy bleeding. Due to the high risk of rebleeding and fatal hemorrhage, surgery with curative intent was proposed and the patient was counseled on the risks of ischemia to the lower limb, testes, and penis. Preoperative embolization of the feeding vessels was performed. Three days later, surgical excision of the mass with the affected scrotum, left rectus muscle, sheath, and overlying abdominal skin followed. The testes were dissected from the malformation and preserved along with the right internal pudendal artery. The left thigh skin was advanced to the scrotal remnants and a neoscrotum created. The resulting large abdominal wall defect was reconstructed in layers with a pedicled anterolateral thigh flap, including innervated vastus lateralis muscle, to prevent herniation. Recovery was uneventful, and a 4-year follow-up revealed no significant clinical or radiological recurrence with recovery of flap sensation, retained erectile function, and no herniation. We report this case due to rarity of giant abdominoscrotal arteriovenous malformations and present preoperative embolization, surgical resection, and functional anterolateral thigh flap reconstruction as a valuable treatment option of this life-threatening illness.