Concurrent cerebral infarction and intracranial tuberculoma induced by the carotid plaque complicated with miliary tuberculosis.

Cerebrovascular complications of central nervous system tuberculosis (TB) are predictors of poor prognosis and adverse outcomes. These complications are mainly intracranial arterial involvement, with occasional venous involvement. Here, we present a 67-year-old woman with concurrent cerebral infarction and intracranial tuberculoma induced by the carotid plaque complicated by miliary tuberculosis. Mycobacterium tuberculosis was observed on the luminal side of the carotid plaques in pathological specimens. Treatment with anti-TB drugs alone would likely not cure the patient, as M. tuberculosis would continue to disseminate. Endarterectomy could directly remove the embolic source, and a complete cure was achieved.

Absence of diffusion-weighted imaging abnormalities in a patient with neuronal intranuclear inclusion disease.

INTRODUCTION: Herein, we report a genetically confirmed case of neuronal intranuclear inclusion disease without characteristic subcortical hyperintensities on diffusion-weighted imaging. CASE PRESENTATION: A 75-year-old man was admitted to our hospital with subacute onset of conscious disturbance. Except for gastric cancer, he had no apparent past medical or family history. He presented with transient fever, vomiting, and urinary retention. On admission, no apparent abnormal intensity was detected on diffusion-weighted imaging. The symptoms improved within 10 days, without any medical treatment. Additional inspections were performed under suspicion of neuronal intranuclear inclusion disease. Intranuclear inclusions were found not only from skin biopsy but also from his stomach specimens, which had been resected 6 years previously. Subsequent genetic testing revealed repeat expansion of GGC amplification in NOTCH2NLC. CONCLUSION: Characteristic neuroimaging and skin biopsy findings are important clues for diagnosing neuronal intranuclear inclusion diseases. Nonetheless, confirming a diagnosis is difficult due to the diversity of clinical manifestations and radiological features. Clinicians should suspect neuronal intranuclear inclusion disease in patients with transient encephalitic episodes, even if no abnormalities are detected on diffusion-weighted imaging.

Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).

BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the acid α-glucosidase (GAA) enzyme. GAA deficiency induces progressive glycogen accumulation which leads to weakness of the respiratory muscle including the diaphragm. Pompe disease is one of the few myopathies, for which an established therapy is available. Thus, earlier detection of potential late-onset Pompe disease (LOPD) and earlier intervention would have a significant clinical impact. PURPOSE: Our hypothesis is that sleep problems including sleep disordered breathing (SDB) and clinical symptoms may indicate an early stage of LOPD since decreased respiratory muscle activity generally first presents during sleep. Thus, the aims of this prospective, multicenter observational cohort study in Japan (PSSAP-J) are to demonstrate a higher prevalence of LOPD in a sleep lab-based population (primary outcome), and to identify predictive factors for LOPD from findings in diagnostic polysomnography (PSG) and clinical symptoms (secondary outcomes). METHODS: The study design is a prospective multicenter observational cohort study. Consecutive patients who present to sleep labs due to suspected SDB for an overnight PSG will be enrolled. All patients will be measured for creatine kinase, GAA activity, and if necessary, genetic analysis of GAA. Furthermore, chest X-ray, pulmonary function test, and arterial blood gas analysis will be collected. Then, prevalence and specific findings of LOPD will be assessed. RESULT: Congenital myopathy shows a shift from slow-deep to rapid-shallow breathing during transition from wakefulness to sleep accompanying a symptom of waking with gasping (actual further results are pending). DISCUSSION: The distribution in respiratory physiology between during wakefulness and sleep specific to LOPD may provide insights into early-stage detection. CLINICAL TRIAL REGISTRATION NUMBER: UMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).

Multifaceted structural magnetic resonance imaging findings in demented patients with pathologically confirmed TDP-43 proteinopathy.

This short report clarifies the heterogeneity of structural magnetic resonance imaging (MRI) findings in seven demented patients due to pathologically accumulated TAR DNA-binding protein-43 (TDP-43) protein using visual analyses including visual rating scales (i.e., global cortical atrophy and medial temporal atrophy scales). In addition to the well-known frontotemporal lobar atrophy, structural MRI has revealed multifaceted imaging findings including asymmetric atrophy of the frontoparietal lobe and cerebral peduncle, midbrain atrophy, and localized or diffuse white matter T2 hyperintensity. Understanding of these multifaceted neuroimaging findings is important for the precise antemortem diagnosis of TDP-43 proteinopathy.

Overlapping connections within the motor cortico-basal ganglia circuit: fMRI-tractography analysis.

Contribution of the subcortical nuclei to the coordination of human behavior is dependent on the existence of appropriate anatomical architecture. Interpretations of available data have led to opposing 'information funneling' and 'parallel processing' hypotheses. Using motor circuit as a model, we examined whether cortico-subcortical circuits, especially cortico-basal ganglia circuits, are funneled or parallel in the control of volitional movement. Twenty-five healthy subjects underwent functional magnetic resonance imaging (fMRI). Activated clusters during self-initiated, sequential finger-to-thumb opposition movements of the left hand were identified in the bilateral supplementary motor area (SMA), right lateral premotor cortex (PM) and primary motor cortex (M1), and in the right striatum and thalamus. These functionally defined clusters were applied to probabilistic tractography based on diffusion-weighted MRI to examine patterns of connectivity. Striatal and thalamic sub-regions with high probabilities of connection to the motor cortices partially overlapped, with connection to the two premotor areas outspreading rostrally relative to M1. We suggest that, on a macroscopic anatomical level, there is overlap as well as segregation among connections of the motor cortices with the striatum and thalamus. This supports the notion that neuronal information of the motor cortices is funneled, and parallel processing is not an exclusive principle in the basal ganglia.

[Changes in vessel wall magnetic resonance contrast-enhancement in a patient with multiple cerebral infarction due to meningovascular neurosyphilis].

A 46-year-old man with a history of generalized skin rash following physical contact with possible syphilis infection developed right upper and lower extremity ataxia and right lower extremity paresis. Brain magnetic resonance (MR) imaging revealed multiple areas of acute cerebral infarction mainly within the territories of the right superior cerebellar artery (SCA) and left anterior cerebral artery. The patient was diagnosed with meningovascular neurosyphilis based on positive results on syphilis testing of the serum and cerebrospinal fluid. MR angiography revealed decreased signal intensity in the proximal segment of the right SCA, and gadolinium-enhanced three-dimensional T1-weighted MR images showed an enhancement of the vessel wall in this segment of the artery. Signal intensity in the right SCA showed partial improvement following the completion of intravenous penicillin treatment, and contrast enhancement of the vessel wall disappeared simultaneously with clinical improvement. Alterations in cerebral vessel walls on contrast-enhanced MR imaging in cases of meningovascular neurosyphilis may reflect vascular inflammatory activity.

Comparison of the radioisotope cisternography findings of spontaneous intracranial hypotension and iatrogenic cerebrospinal fluid leakage focusing on chronological changes.

BACKGROUND: Radioisotope cisternography (RICG) is useful for detecting cerebrospinal fluid (CSF) leakage in spontaneous intracranial hypotension (SIH) patients. However, RICG can cause iatrogenic CSF leakage (ICSFL) due to a lumbar puncture. OBJECTIVES: To compare the RICG findings of SIH and ICSFL. METHODS: The presence of direct findings suggesting CSF leakage and indirect findings including early visualization of the bladder and absence of radioactivity over the brain convexities were evaluated in seven SIH and six ICSFL patients. Radioisotope clearance was assessed semi-quantitatively. RESULTS: In contrast to the variety of anatomical levels at which direct findings were detected in the SIH patients, the ICSFL patients only displayed direct findings at the lumbosacral level. None of the ICSFL patients displayed direct findings at 1 hour after the tracer injection. Although early visualization of the bladder was depicted in all patients, no activity was visualized over the brain convexities in the SIH patients. In the semi-quantitative analysis, the tracer retention index at 24 hours was lower in the SIH patients than the ICSFL patients. CONCLUSIONS: The early appearance of direct findings above the lumbosacral level, the absence of radioactivity over the brain convexities and a low tracer retention index are suggestive of SIH.

[Transient changes in food preference in a patient with cerebellar infarction].

A 44-year-old woman was admitted to our hospital due to dizziness and ataxia of the trunk and right upper limb. Brain MRI revealed an acute infarct lesion in the right posterior inferior cerebellar artery territory. In addition to the cognitive deterioration observed in the subacute phase, a change was noted in her food preference-from light-tasting, low-caloric Japanese cuisine, sugarless coffee, and hot drinks to strong-tasting, high-caloric Western cuisine, sugar-rich coffee, and iced drinks. Single-photon emission computed tomography showed hypoperfusion in the bilateral frontal lobes and right cerebellum. These cognitive and food preference-related changes were gradually restored over six months after the onset. The reduced cerebral blood flow in the bilateral frontal lobes also restored along with the clinical improvement, with the maximal changes in the bilateral subcallosal areas. This case suggests that changes in food preference can occur as a symptom of cerebellar infarction, possibly by the mechanism similar to cerebellar cognitive affective syndrome.

[Anti-voltage-gated potassium channel (VGKC) complex/leucine-rich glioma-inactivated protein 1 (LGI1) antibody-associated limbic encephalitis mimicking dementia with Lewy bodies in a patient with subacute REM sleep behavior disorder].

A 73-year-old woman was admitted to our hospital owing to abnormal diurnal behavior, sudden brief episodes of impaired awareness, and loud nocturnal sleep talking. Her symptoms had developed gradually over several months and had been treated as dementia with Lewy bodies (DLB) at another clinic. Video-polysomnography revealed brief sleep talking and gross movements associated with REM sleep without atonia. 18F-FDG PET revealed increased glucose metabolism in both medial temporal lobes. These findings led to a diagnosis of limbic encephalitis (LE) comorbid with REM sleep behavior disorder (RBD). After two courses of intravenous methylprednisolone pulse therapy, her symptoms gradually improved. Her illness was later confirmed as anti-voltage-gated potassium channel (VGKC) complex/leucine-rich glioma-inactivated protein 1 (LGI1) antibody-associated LE using serum analyses. Clinical features of anti-VGKC complex/LGI1 antibody-associated LE can mimic those of DLB, particularly when comorbid with RBD.

Severe Measles Encephalitis and Acute Disseminated Encephalomyelitis in an Immunocompetent Japanese Young Male.

Measles encephalitis rarely affects young adults and has no established treatment strategy. This brief report described the rare case of an immunocompetent 30-year-old man with severe measles pneumonia and encephalitis, following the autoimmune disease acute disseminated encephalomyelitis, during a large measles outbreak in 2018 in Japan. With multidisciplinary treatments, including corticosteroids, intravenous immunoglobulins, vitamin A, and therapeutic plasma exchange, the patient was successfully treated. This case provides a new strategy for treating measles encephalitis and its complications during measles outbreak.

Utility of T2-weighted high-resolution vessel wall imaging for the diagnosis of isolated posterior inferior cerebellar artery dissection at acute and early subacute stages.

Recent advances in magnetic resonance high-resolution vessel wall imaging (HRVWI), which can detect intramural hematomas (IMH), improve the noninvasive diagnostic accuracy of isolated posterior inferior cerebellar artery dissection (iPICA-D). However, despite the risk of overlooking minute IMH, the utility of T2-weighted HRVWI has not been thoroughly evaluated. This study aimed to compare the utility of T2-weighted HRVWI with that of T1-weighted HRVWI, basiparallel anatomical scanning (BPAS), and magnetic resonance angiography (MRA) for the diagnosis of iPICA-D mainly in the acute and early subacute stages in 6 iPICA-D patients (three acute, two early subacute and one late subacute stages on initial examinations). Dissection-related abnormalities included IMH on T1-weighted HRVWI, aneurysmal dilations on T2-weighted HRVWI and discrepancy between BPAS and MRA. On initial examinations, T2-weighted HRVWI revealed iPICA-D-related abnormalities more conspicuously than did T1-weighted HRVWI and combination of BPAS and MRA. Except in a single case with a discrepancy between the outer contour on BPAS and inner contour on MRA, no specific abnormalities were detected besides T2-weighted HRVWI at acute or early subacute stages. In addition to T1-weighted HRVWI, BPAS and MRA, T2-weighted HRVWI should be performed to diagnose acute and early subacute iPICA-D.

[Confusional migraine in a young adult female: Is it a subtype of migraine with aura?]

A 22-year-old female was admitted to our hospital due to acute onset of severe headache, confusion, and deterioration of consciousness. Results of initial examinations did not suggest cerebrovascular diseases, encephalitis, or nonconvulsive status epilepticus. Over the next several weeks, her level of consciousness fluctuated in parallel with the severity of headache. The electroencephalogram, recorded during a symptomatic episode, showed lack of posterior dominant rhythm, and the single-photon emission CT (SPECT) also revealed a decrease in cerebral blood flow predominantly in the occipital lobes. Administration of sodium valproate and topiramate, recommended as treatment for migraine, dramatically ameliorated her headache and consciousness. Although this was an adult-onset case, her symptoms and clinical course were similar with the diagnosis of ICHD-3-unlisted confusional migraine rather than other listed subtypes of migraine with aura. Further accumulation of similar adult-onset cases is necessary to clarify the nature of this illness.

[Multiple mononeuropathy associated with systemic sclerosis with vasculitis confirmed by nerve biopsy: a case report].

A 68-year-old woman with a medical history of interstitial pneumonia associated with systemic sclerosis (SSc) presented with numbness of the lower limbs and left drop foot. She was diagnosed with multiple mononeuropathy based on the laterality of her symptoms, muscle weakness, thermal hypoalgesia, and nerve conduction study findings. Left sural nerve biopsy showed vasculitis, and steroid therapy was effective. This case highlights the importance of histopathological assessment to select an appropriate treatment strategy.

Nigrostriatal Dopaminergic Dysfunction and Altered Functional Connectivity in REM Sleep Behavior Disorder With Mild Motor Impairment.

Rapid eye movement sleep behavior disorder is parasomnia characterized by symptoms of dream enactment and loss of muscle atonia during rapid eye movement sleep. Mild motor impairment is present in some patients with rapid eye movement sleep behavior disorder and presumed to be a risk factor for conversion to synucleinopathies. The purpose of this study is to identify patients with mild motor impairment by evaluating finger tapping and to investigate its pathophysiology. Twenty-three patients with rapid eye movement sleep behavior disorder and 20 healthy control subjects were recruited in the present study. We accurately evaluated finger tapping including amplitude, peak open, and close speed with a magnetic sensing device and identified patients with mild motor impairment. Moreover, we performed 123I-2ß-carbomethoxy-3ß-(4-iodophenyl) nortropane SPECT and resting state functional MRI. 123I-2ß-carbomethoxy-3ß-(4-iodophenyl) nortropane uptake for each bilateral caudate, anterior putamen, and posterior putamen was calculated and the resting state functional connectivity of sensorimotor network was analyzed. Using finger tapping parameters, we identified eight patients with mild motor impairment. In patients with mild motor impairment, all finger tapping parameters were significantly impaired when compared to patients with normal motor function, while they exhibited no significant differences in Unified Parkinson's Disease Rating Scale part III score. 123I-2ß-carbomethoxy-3ß-(4-iodophenyl) nortropane uptake in the right posterior putamen, bilateral anterior putamen, and caudate was significantly lower when compared to healthy controls or patients with rapid eye movement sleep behavior disorder with normal motor function. These patients also exhibited decreased cortico-striatal functional connectivity and increased cortico-cerebellar functional connectivity when compared to healthy controls or patients with normal motor function. Our results show that mild motor impairment in rapid eye movement sleep behavior disorder evaluated by finger tapping task presented mild nigrostriatal dopaminergic dysfunction as well as alterations in resting state sensorimotor network. Although longitudinal follow up is necessary, such patients may have higher risk of short-term conversion to synucleinopathies.

Decrease in myocardial 123I-MIBG radioactivity in REM sleep behavior disorder: two patients with different clinical progression.

Although decrease in myocardial iodine-123 metaiodobenzylguanidine ((123)I-MIBG) radioactivity has been reported in patients with rapid eye movement (REM) sleep behavior disorder (RBD), its pathophysiology has not been thoroughly disclosed. We report two RBD patients with differing clinical progression, in whom myocardial (123)I-MIBG scintigraphy was performed. One 69-year-old patient had more than a 20-year history of idiopathic RBD and showed a decrease in myocardial (123)I-MIBG radioactivity. The other 69-year-old patient started to manifest nocturnal behaviors at age 62, then mild parkinsonism at age 68, and showed a similar decrease in myocardial (123)I-MIBG radioactivity both before and after the onset of parkinsonism. These cases suggest that RBD could develop in diverse patterns of clinical progression even if signs of underlying Lewy body pathology are uniformly indicated.

[Intrasellar xanthogranuloma with abscess formation in a patient with Rathke's cleft cyst].

An 80-year-old woman diagnosed with granulomatosis with polyangiitis (GPA) complained of a sustained, non-pulsatile headache. Her brain MRI diffusion-weighted images revealed a high-signal-intensity, space-occupying lesion in the sellar region that was rim-enhanced on gadolinium-enhanced T1-weighted images. Pituitary involvement of GPA was initially suspected based on her condition; however, an abscess formation within an existing Rathke's cleft cyst was also considered according to a previous MRI finding that had been conducted for an unrelated purpose. A trans-sphenoidal resection of the lesion revealed an abscess with foam cells. These findings were consistent with a diagnosis of a xanthogranuloma with abscess formation in the Rathke's cleft cyst, and her headache was completely resolved without any immune therapy that is required for GPA. Thus, differential diagnosis of space-occupying lesions in the seller region should include xanthogranuloma with abscess formation, especially if a Rathke's cleft cyst is detected as an antecedent finding.

[A case of neurolymphomatosis diagnosed with FDG-PET].

A 38-year-old man with non-Hodgkin's lymphoma presented with hypesthesia and muscle weakness in the left upper limb. A lack of F-waves in left median and ulnar nerve conduction studies suggested a lesion at the proximal segments of the peripheral nerves, such as the left brachial plexus or nerve roots. Cervical magnetic resonance imaging revealed no lesions compressing nerve roots or peripheral nerves. Small and obscure uptake on the left side of the cervical nerve roots on 67Ga-scintigraphy was indistinguishable from artifact. Positron emission tomography-computed tomography (PET/CT) revealed a region of high glucose uptake in a left cervical intervertebral foramen, leading to a diagnosis of neurolymphomatosis. Neurological symptoms improved following additional chemotherapy, and the high glucose-uptake lesion disappeared. FDG-PET/CT is useful for rapid and non-invasive evaluation of neurolymphomatosis.

Low signal intensity lesions on brain susceptibility-weighted MRI in a patient with intravascular large B-cell lymphoma.

A 71-year-old man was admitted to our hospital because of abnormal behavior and generalized convulsion. Brain MRI revealed no abnormalities upon admission. Levels of serum lactate dehydrogenase and soluble interleukin-2 receptors were significantly elevated, whereas the initial bone marrow puncture and random skin biopsy findings were non-malignant. On the tenth day of admission, brain MRI revealed dot and strip-shaped low signal intensity lesions on susceptibility-weighted images (SWI) disseminated mainly within the cerebral cortex. Administration of high dose methyl-prednisolone improved neither his condition nor these MRI findings. Ground-glass opacities within the bilateral lungs later emerged on the chest CT. The results of a transbronchial lung biopsy and second bone marrow puncture were consistent with a diagnosis of intravascular large B-cell lymphoma (IVLBCL). Despite the lack of histopathological confirmation, the low signal intensities on brain SWI in this case were also considered IVLBCL lesions, reflective of micro-hemorrhagic changes.

Guillain-Barré syndrome after allogeneic bone marrow transplantation: Case report and literature review.

A 50-year-old man with acute myelogenous leukemia underwent allogeneic bone-marrow transplantation (BMT). He presented with severe diarrhoea 86 days post BMT and was diagnosed with graft-versus-host disease (GVHD) based on skin and rectal biopsies. He complained of numbness and weakness in the distal extremities at 114 days after BMT. His symptoms rapidly deteriorated and he required mechanical ventilation for respiratory failure. His clinical course and the findings of a nerve conduction study fulfilled the criteria for diagnosis of Guillain-Barré syndrome (GBS). Sural nerve biopsy revealed active demyelination and infiltration of macrophages and CD8+ T-cells. After three cycles of intravenous immunoglobulin therapy, his symptoms gradually improved, and he could eventually walk unassisted. Although GBS has been known to develop after allogeneic BMT, the pathogenesis remains unclear, and specific treatment regimens have not been well established. Here, we report a case of GBS, caused by an immune-mediated mechanism related to GVHD, which was successfully treated using intravenous immunoglobulin therapy.