ABSTRACT
Despite recent advances in next-generation sequencing, the underlying etiology of adult-onset leukoencephalopathy has been difficult to elucidate. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a representative hereditary adult-onset leukoencephalopathy associated with vasculopathy. Leukoencephalopathy in spastic paraplegia type 4 (SPG4) is known to be rare, but it might be underestimated because most spastic paraplegia with leukoencephalopathy is rarely considered. We report a case of co-occurring SPG4 and CADASIL. A 61-year-old male presented with sudden visual impairment after a headache. He showed a spastic gait and had a family history with similar symptoms. An SPG4 gene mutation and a pathogenic variant in the NOTCH3 gene were found. This case shows that the diverse and complex clinical manifestations of patients with extensive leukoencephalopathy are related to more than one gene mutation. We also suggest the necessity for relevant genetic tests in the diagnosis of adult-onset leukoencephalopathy.
ABSTRACT
Lewy bodies (LBs) and Lewy neurites (LNs) are pathological hallmarks of Parkinson’s disease (PD) or dementia with LBs (DLB). Incidental Lewy body disease (iLBD) is defined when LBs and LNs are found in the brain of normal elderly individuals. A 65-year-old man presented with autopsy-proven Lewy body pathology (LBP). He had never complained of cognitive impairments or parkinsonian motor symptoms, and he had always maintained independence in activities of daily living. Hypopigmentations in the locus coeruleus and substantia nigra were discovered during the autopsy. The patient showed severe-to-extremely severe LBs in the neocortex and limbic areas, except in the nucleus basalis of Meynert, amygdala, and brainstem, according to microscopic findings. Hence, using several of the previously known staging systems, it was difficult to classify the patient’s LBP type. Furthermore, these findings were unique because they had never been observed before in iLBD.
ABSTRACT
Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) overlap clinically with parkinsonism or extrapyramidal signs and pathologically with tauopathy. Asymmetric parkinsonism and cortical dysfunctions are classical features of CBD. However, symmetric parkinsonism, frequent falls, and supranuclear gaze palsy are key features of PSP. Despite biochemically classified as 4R tauopathies, tufted astrocytes of PSP and astrocytic plaque of CBD show pathologically important differences. Herein, we report a 68-year-old man with pathologically confirmed CBD. He was clinically suspected to have PSP because of progressive gait disturbances, frequent falls, and vertical saccade limitation. Neurological examination performed at age 71 revealed symmetrical bradykinesia, axial rigidity, and postural instability with worsening of early existing symptoms. Magnetic resonance imaging of the brain taken at age 70 detected midbrain and left frontotemporal atrophy and right middle cerebral artery infarction. Left frontotemporoparietal hypometabolism and asymmetrically decreased fluoro-propyl-carbomethoxy-iodophenyl-tropane uptake in the basal ganglia were observed. The autopsy was performed at the time of his death (at age 72), which revealed severe pallor of the substantia nigra and mildly hypopigmented locus ceruleus.AT8 immunohistochemistry and Gallyas staining revealed tau-positive neuronal and glial inclusions, astrocytic plaques, ballooned neurons, and numerous threads in both gray and white matter. No abnormal inclusions were revealed by beta-amyloid, α-synuclein and TDP-43 immunohistochemistry. In our case, cerebral infarction, periventricular and deep white matter ischemic changes, and midbrain atrophy were likely to produce PSP–CBD overlapping symptoms. However, our patient was finally confirmed to have CBD based on pathological findings such as astrocytic plaques.
ABSTRACT
Soil-transmitted helminths and Schistosoma haematobium affect more than 3 billion people globally and mainly occur in sub-Saharan Africa. The present study assessed the overall infection status of a 1716-student cohort of school-children in Zanzibar and applied mass drug administration (MDA) to the cohort from 2007 to 2009. Schools in Pemba, Zanzibar, had a much higher prevalence of soil-transmitted helminth infections than those in Unguja, and the Chaani, Ghana, and Machui schools of Unguja exhibited high S. haematobium infection rates. The MDA program only partially controlled parasite infections, owing to high rates of re-infection. The infection rate of S. haematobium across all 10 schools, for example, was only reduced by 1.8%, and even this change not significant, even though the S. haematobiuminfection rates of the Chaani and Mzambarauni schools were significantly reduced from 64.4 and 23.4%, respectively, at the first screening, to 7.3 and 2.3% at the last screening. The overall infection rate of Ascaris lumbricoides was reduced from 36.0% at the first screening to 22.6% at the last screening. However, the infection rates for both Trichuris trichiuraand hookworm were generally unaffected by MDA. In the future, parasite control programs should involve strategically designed MDA schedules and holistic intervention (e.g., sanitation improvement, hygiene behavior changes, and control of intermediated hosts).
ABSTRACT
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a subtype of dominantly inherited leukoencephalopathies caused by novel CSF1R gene mutation predominantly affecting the cerebral white matter. High signal lesions on diffusion weighted image (DWI) are characteristic. Herein, we describe a patent with ALSP with a novel mutation. The patient had persistent DWI lesions, worsening white matter changes associated with rapidly progressive clinical symptoms.
Subject(s)
Humans , Axons , Diffusion , Leukoencephalopathies , Neuroglia , White MatterABSTRACT
Objective: The aim of the present study was to evaluate cortical hypometabolism of the F-18- fluorodeoxyglucose positron emission tomography (FDG-PET) based on a diagnostic cutoff point of the mini-mental state examination (MMSE) in de novo PD.Methods: We recruited 24 PD patients and 15 healthy controls to analyze FDG-PET. We divided the patients into two groups by the diagnostic cutoff point of MMSE for diagnosing dementia, with scores of>25 vs. 25. Compared to healthy controls, patients with a MMSE> 25 and 25 and < 25 was found in the right inferior parietal lobule. Conclusions: In the comparison by cutoff point of MMSE (25/24), hypometabolism in the right inferior parietal lobule suggests that the posterior cortical deficit is the main region ofde novo PD with cognitive impairment. Hypometabolism of right inferior parietal lobule is related to the damage of cerebral networkin de novo PD.
Subject(s)
Parkinson DiseaseABSTRACT
Here we report a case of doxycycline-resistant tsutsugamushi meningoencephalitis. A 63-year-old man with altered mental status was diagnosed with a tsutsugamushi infection by a local clinic and administered standard doxycycline treatment for 5 days without improvement. Azithromycin treatment for 3 days dramatically improved his clinical status.
ABSTRACT
Background & Objectives: Frontal executive dysfunction, which is hypothesized to reflect dorsolateral prefrontal function, predominates in Parkinson’s disease (PD). Visuospatial dysfunction and episodic memory deficit, which are associated with the posterior cortical area, are critical symptoms of mild cognitive impairment in PD (PD-MCI). The first aim of this study is to investigate whether dominant cognitive deficits are caused by posterior cortical dysfunction in drug naïve, de novo PD-MCI patients. The second aim is to analyze the relationship between parkinsonian motor symptoms and the cognitive domain in these patients. Methods: Newly diagnosed PD patients who had not received treatment were divided into two subgroups as follows: PD-MCI (n=39) and PD patients with normal cognition (PD-NC) (n=39). Various neuropsychological tests were performed in all of the patients. The parkinsonian motor subscores were divided into tremor, rigidity, axial impairment, bulbar dysfunction and bradykinesia by the UPDRS motor scores. Results: Verbal episodic memory (immediate recall; p = 0.0001, delayed recall; p = 0.0001, recognition; p = 0.003), visual episodic memory (immediate recall; p = 0.0001, delayed recall; p = 0.002) and visuospatial function (p = 0.046) were lower in the PD-MCI group than in the PD-NC group. In the analysis of the correlation of the motor components to the cognitive tests, impairment in visual episodic memory correlated with axial symptoms (immediate recall; r = -0.441, p = 0.021, delayed recall; r = -0.393, p = 0.042). The contrast program test correlated with bradykinesia (r = -0.479, p = 0.013) Conclusion: Episodic memory and visuospatial dysfunction, which reflect impairment of the posterior cortical area, are critical cognitive deficits, and memory impairment is correlated with the axial symptoms that are associated with non-dopaminergic pathways in newly diagnosed PD-MCI patients.
ABSTRACT
Hemiplegia cruciata (HC) manifests as paralysis of the ipsilateral arm and contralateral leg. Herein, we report a 64-year-old man with weakness of the right leg and of the left arm after multiple sclerosis (MS). His brain and spine magnetic resonance imaging show a lower medulla lesion, which is extended to posterior part of C1 spine through cervicomedullary junction. HC usually results from stroke or trauma, but it is rare as presenting symptom of MS.
Subject(s)
Humans , Middle Aged , Arm , Brain , Hemiplegia , Leg , Magnetic Resonance Imaging , Multiple Sclerosis , Paralysis , Pyramidal Tracts , Rubiaceae , Spine , StrokeABSTRACT
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a syndrome with complex genetics and diverse manifestations. Diffuse alveolar hemorrhage is caused by alveolar microcirculation injury associated with lung illness or systemic disorders. To date, the relationship between diffuse alveolar hemorrhage and MELAS has not been reported. We report a MELAS patient who presented complications with diffuse alveolar hemorrhage.
ABSTRACT
Atopic myelitis (AM) is a relatively mild form of myelitis associated with allergic diathesis, and present with predominant sensory manifestations. Lhermitte's sign has been considered as a relatively non-specific clinical sign suggesting demyelinating lesion in cervical cord. Here we report a patient with recurrent AM who presented with isolated Lhermitte's sign, both in first and second attacks. This report suggests that either the diagnosis or recurrence of AM can be frequently underdiagnosed because of its predominant sensory manifestations.
Subject(s)
Humans , Diagnosis , Disease Susceptibility , Myelitis , RecurrenceABSTRACT
No abstract available.
Subject(s)
Dermatomyositis , Lung Diseases, Interstitial , PneumoniaABSTRACT
BACKGROUND: To evaluate the effects of severe hypoglycemia without hypokalemia on the electrocardiogram in patients with type 2 diabetes in real-life conditions. METHODS: Electrocardiograms of adult type 2 diabetic patients during the episodes of severe hypoglycemia and the recovered stage were obtained and analysed between October 1, 2011 and May 31, 2012. Patients who maintained the normal serum sodium and potassium levels during the episodes of severe hypoglycemia were only selected as the subjects of this study. Severe hypoglycemia was defined, in this study, as the condition requiring active medical assistance such as administering carbohydrate when serum glucose level was less than 60 mg/dL. RESULTS: Nine type 2 diabetes patients (seven men, two women) were included in the study. The mean subject age was 73.2+/-7.7 years. The mean hemoglobin A1c level was 6.07%+/-1.19%. The median duration of diabetes was 10 years (range, 3.5 to 30 years). Corrected QT (QTc) intervals were significantly increased during the episodes of severe hypoglycemia compared to the recovered stage (447.6+/-18.2 ms vs. 417.2+/-30.6 ms; P<0.05). However, the morphology and the amplitude of the T waves were not changed and ST-segment elevation and/or depression were not found during the episodes of severe hypoglycemia. CONCLUSION: In this study, QTc interval prolongation during the episodes of severe hypoglycemia was observed without hypokalemia. Therefore, the distinct alterations in cardiac repolarization during the episodes of severe hypoglycemia may not be associated with hypokalemia.
Subject(s)
Adult , Humans , Male , Depression , Diabetes Mellitus, Type 2 , Electrocardiography , Glucose , Hemoglobins , Hypoglycemia , Hypokalemia , Medical Assistance , Potassium , SodiumABSTRACT
In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), clinical presentation with movement disorders such as dystonia and progressive supranuclear palsy-phenotype are rarely reported. None of the CADASIL cases, to our knowledge, has been reported with chorea. Herein, we describe a Korean woman with CADASIL who had presented with chorea. 18F-fl uorodeoxyglucose positron emission tomography (FDG-PET) showed hypometabolism in the right basal ganglia. We found decreased FDG uptake of the right basal ganglia by SPM analysis.
ABSTRACT
No abstract available.
Subject(s)
Carotid Artery, Common , Carotid Artery, External , Carotid Artery, Internal , Collateral CirculationABSTRACT
BACKGROUND AND PURPOSE: Primary involvement of the peripheral nerves in myotonic dystrophy type I (MyD1) is controversial. We investigated whether the involvement of peripheral nerves is a primary event of MyD1 or secondary to another complication such as diabetes mellitus (DM). METHODS: The subjects comprised 12 patients with MyD1, 12 with DM and no peripheral nerve involvement, and 25 healthy volunteers. We measured multiple excitability indices in the median motor axons. The strength-duration time constant was calculated from the duration-charge curve, the threshold electrotonus and current-threshold relationships were calculated from the sequential subthreshold current, and the recovery cycle was derived from double suprathreshold stimulation. RESULTS: The depolarizing and hyperpolarizing threshold electrotonus were significantly reduced and exhibited increased refractoriness in the MyD1 group compared with the DM and control groups. The SDTC, superexcitability, and subexcitability were not significantly altered in the MyD1 group. CONCLUSIONS: The MyD1 group exhibited a depolarized axonal membrane potential. The significant differences in peripheral nerve excitability between the MyD1 group and the DM and normal control groups suggest that peripheral neuropathy is a primary event in MyD1 rather than a secondary complication of DM.
Subject(s)
Humans , Axons , Diabetes Mellitus , Membrane Potentials , Myotonic Dystrophy , Peripheral Nerves , Peripheral Nervous System Diseases , Sarcosine , ThiocarbamatesABSTRACT
Pulmonary arteriovenous malformation (PAVM) is a rare vascular anomaly. The vascular anomaly usually occurs congenitally, and enlarges progressively with aging. Although PAVM has many pulmonary manifestations, its most common symptom is known to be dyspnea on exertion. Non pulmonary complications, such as ischemic stroke, have rarely been reported. In this paper, we report a case of a patient with both cerebellar infarction and an isolated PAVM. The PAVM was diagnosed with transesophageal echocardiography, transcranial Doppler and pulmonary angiography, and treated with embolization.
Subject(s)
Humans , Aging , Angiography , Arteriovenous Malformations , Dyspnea , Echocardiography, Transesophageal , Infarction , StrokeABSTRACT
Petechial cortical hemorrhages are common in Herpes simplex virus (HSV) encephalitis, however, cerebral hematoma is extremely rare. We report a case of a 47-year-old immunocompetent woman diagnosed with herpes encephalitis but complicated by cerebral hematoma despite of early diagnosis and treatment.