BackgroundLymphomatosis cerebri (LC) is a rare subtype of primary central nervous system malignant lymphoma. The typical features of this disease exhibited on magnetic resonance imaging (MRI) without contrast enhancement are similar to those observed with diffuse leukoencephalopathy, mimicking white matter disorders such as encephalitis. Clinical features and examination findings that are suggestive of inflammatory diseases may indeed confound the diagnosis of LC.Case presentationA 66-year-old woman with continuous fever over a two-month period developed left hemiparesis despite presenting in an alert state with normal cognitive function. Sampling tests showed autoantibodies in the serum and inflammatory changes in the cerebrospinal fluid. The results from an MRI demonstrated multiple non-enhanced brain lesions in the splenium of the corpus callosum and deep white matter. Single photon emission computed tomography revealed increases in blood flow in the basal ganglia, thalamus and brainstem. No systemic malignancies were found. The patient was suspected of having a diagnosis of nonvasculitic autoimmune inflammatory meningoencephalitis and treated with intravenous methylprednisolone pulse therapy. Her fever transiently dropped to within the normal range. However, she had a sudden seizure and a second MRI exhibited infiltrative lesions gradually extending throughout the whole brain. We performed a brain biopsy, and LC was histologically diagnosed. The patient received whole-brain radiation therapy, which diminished the fever and seizures. The patient died one year after the initial onset of fever.ConclusionsThe present case yields an important consideration that brain neoplasms, especially LC, cannot be ruled out, even in cases with clinical characteristics and examinations consistent with inflammatory diseases. Careful follow-up and histological study are vital for the correct diagnosis of LC.
In this communication, we report a patient with familial amyotrophic lateral sclerosis (ALS) associated with a familial dyslipidemia. Genetic analysis revealed a novel heterozygous valosin-containing protein (VCP) mutation (c.466G>T (p.G156C)). The other gene analysis also disclosed a known homozygous LCAT mutation (c.101C>T (p.P10L)). VCP gene mutation shown should be responsible for familial ALS because of following reasons. The patient's father also was also affected by ALS. The VCP gene mutation (p.G156C) in the patient was located in the vicinity of a site frequently associated with pathogenic VCP variants. The same amino acid transformation as that of this patient has been reported to be involved in the pathogenesis of inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia. This is the first case report of rare association of ALS with VCP mutation and dyslipidemia with LCAT mutation.
Hemichorea-hemiballism (HC-HB) is classically associated with stroke lesions in the STN.1-3 A large clinical study reported that some other lesions in the basal ganglia, such as in the caudate and putamen, may also cause HC-HB, 4 which is seldom the result of a cortical infarction. We observed transient HC-HB in a patient with a cerebral infarction in the temporal-parietal lobe without any lesions in the basal ganglia including the STN after intravenous recombinant tissue plasminogen activator (rtPA) administration.A 72-year-old right-handed female, who had neither a history of diabetes mellitus nor dopaminergic medication use, was admitted to our hospital because of sudden-onset leftsided hemiparesis. Neurological examination revealed spatial disorientation, conjugate eye deviation to the right, and dysarthria. She had left-sided hemiparesis and sensory disturbance of all modalities. Deep tendon reflexes were exaggerated in the affected limbs. The plantar response was bilaterally flexor. National Institutes of Health Stroke Scale (NIHSS) was 19 points on admission. Blood sample tests were normal except for elevations of brain natriuretic peptide (717 pg/mL) and D-dimer (10.3 lg/mL). Thyroid function was normal, and hyperglycemia was ruled out. Brain MRIs showed acute cerebral infarction in the right temporal-parietal lobe perfused by the middle cerebral artery (MCA; Fig. 1A,B). Electrocardiogram showed atrial fibrillation. The patient was diagnosed as having cardioembolic infarction, and rtPA was administered within 3 hours after onset of symptoms. Nine hours later, her hemiparesis was improved significantly, which was reflected in the NIHSS score of 8 points (11-point decrease). Subsequent to motor improvement, the left hand started to show choreic movements, such as stereotypic pronation and supination, which progressed into ballistic arm movements in a day's time. Eventually, the left-lower extremity was also involved, confirming HC-HB syndrome (Video 1). Subsequent brain MRIs confirmed no lesions in the basal ganglia, including the STN, and no changes in size of the stroke lesion (Fig. 1C,D). Single-photon emission CT (SPECT) showed an increase of blood flow in the right basal ganglia and hypoperfusion in the affected cortical lesion (Fig. 1E). These involuntary movements persisted and disappeared on the ninth day. She no longer exhibited neurological deficits thereafter. Five months later, follow-up brain MRIs revealed cortical laminar necrosis with atrophic changes in the stroke lesion, but no lesions in the basal ganglia (Fig. 1F).Hyperkinetic involuntary movements accompanied by a pure cortical infarction sparing the basal ganglia are extremely rare. The aforementioned large clinical study reported that only 6 cases of 5,007 consecutive stroke patients had hemichorea (0.12%), and the lesions were located in the MCA territory. 4 In patients with an STN lesion, hyperkinetic disorder can be explained by dysfunction of the basal ganglia in the motor loop: Reduction of the striatopallidal inhibitory network b...
Background: Chronic graft-versus-host disease (GVHD) appears several months following allogenic hematopoietic stem cell transplantation (HSCT) and is clinically analogous to autoimmune disorder. Polymyositis is a common neuromuscular disorder in chronic GVHD, but myasthenia gravis (MG) is extremely rare. Hence, its pathophysiology and treatment have not been elucidated. Case presentation: A 63-year-old man with a history of chronic GVHD presented with ptosis, dropped head, and dyspnea on exertion, which had worsened over the previous several months. He showed progressive decrement of compound muscle action potential in the deltoid muscle evoked by 3-Hz repetitive nerve stimulation, a positive edrophonium test, and elevated levels of serum anti-acetylcholine receptor antibodies, which suggested a diagnosis of generalized MG. No thymoma was found. Flow cytometric analysis revealed a remarkable depletion of peripheral Tregs (CD4
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