Search

Vanishing White Matter Disease (VWMD) is a rare autosomal recessive leukoencephalopathy . The classical presentation is characterized by a severe cerebellar ataxia, spasticity, neurological deterioration with a chronic progressive course and episodes of acute neurological deterioration after stress conditions.We report a 52-year-old man with VWMD and atypical features who manifested two major events of transient aphasia eleven years apart with complete recovery in 48 hours. No cognitive decline was present. Brain MRI revealed typical aspects of VWMD including diffuse leukoencephalopathy with relative sparing of U-fibers. We identified the presence of c.592G>A (p.Glu198Lys) and c.1360 C>T (p.Pro454Ser) mutations in EIF2B5.

In Central nervous system (CNS), neurocysticercosis (NCC) is the most common parasitic infection that affects the CNS. Cysticidal drugs are used for its treatment, and they can precipitate an inflammatory response, which results in worsening of symptoms. We report 2 cases of extensive neurocysticercosis that show diffuse white matter edema that involves both cerebral hemispheres. Of the 2 patients, one showed disseminated cysticercosis that involved the tongue, scalp muscles, and skeletal muscles of the extremities.

Diffuse leukoencephalopathy and juxtacortical and/or callosal microhemorrhages were brain imaging features in critically ill patients with coronavirus disease 2019. Coronavirus disease 2019 (COVID-19) has been reported in association with a variety of brain imaging findings such as ischemic infarct, hemorrhage, and acute hemorrhagic necrotizing encephalopathy. Herein, the authors report brain imaging features in 11 critically ill patients with COVID-19 with persistently diminished mental status who underwent MRI between April 5 and April 25, 2020. These imaging features include (a) confluent T2 hyperintensity and mild restricted diffusion in bilateral supratentorial deep and subcortical white matter (in 10 of 11 patients) and (b) multiple punctate microhemorrhages in juxtacortical and callosal white matter (in seven of 11 patients). The authors also discuss potential pathogeneses. © RSNA, 2020 Online supplemental material is available for this article.

A 60-year-old patient presented with respiratory distress, after recently being tested COVID-19 positive and was mechanically ventilated for 15 days. After cessation of sedation, he remained in deep comatose state, without any reaction on pain stimuli (Glasgow Coma Score 3). MRI of the brain showed diffuse leukoencephalopathy and multiple (>50) microbleeds. Diffuse COVID-19-associated leukoencephalopathy with microhaemorrhages is associated with a poor prognosis. However, 3 months later, our patient showed a remarkable recovery and was able to walk independently. This case report shows COVID-related leukoencephalopathy and intracerebral microbleeds, even with persistent comatose state, may have a favourable clinical outcome and prolonged treatment should be considered in individual cases.

This article reviews diseases for which persistent signal abnormalities on diffusion-weighted imaging are the key to their diagnosis. Specifically, updated knowledge regarding the neuroimaging patterns of the following diseases is summarized: sporadic Creutzfeldt-Jakob disease, neuronal intranuclear inclusion disease, and hereditary diffuse leukoencephalopathy with axonal spheroids-colony-stimulating factor receptors/adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. In addition, their differential diagnoses; clinical manifestations; and pathologic, genetic, and imaging correlates are discussed.

The novel severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) causes the potentially fatal coronavirus disease 2019 (COVID‐19). The most common presentation of COVID‐19 is respiratory disease; however, prominent neurological manifestations are increasingly being reported [1]. One of these neurological manifestations reported in critically ill COVID‐19 patients is leukoencephalopathy with cerebral microbleeds.

Background The magnetic resonance imaging (MRI) findings of Hashimoto's encephalopathy (HE) are variable; images range from having a normal appearance, to showing ischemic lesions, demyelination, or vasogenic edema. Case Report A 57-year-old woman presented with a sudden onset of dysarthria and dizziness. Routine blood tests were normal and the MRI was unremarkable. After admission, she developed aphasic seizures and myoclonus, and eventually became comatose. A follow up MRI showed diffuse high signal intensities at the bilateral cerebral white matter on fluid attenuated inversion recovery imaging. The serum titers of the anti-thyroglobulin antibody and anti-thyroperoxidase antibody were increased. After 5 days of 1,000 mg/day of intravenous methylprednisolone infusion, she recovered rapidly. Conclusion We propose that repeated brain MRIs are necessary for the diagnosis of HE. Diffuse leukoencephalopathy may be a pathologic finding on MRI and, in this case study, was shown to be reversible after applying an appropriate treatment

Hereditary diffuse leukoencephalopathy with axonal spheroids demonstrates clinical and neuroimaging heterogeneity.

A 47-year-old man presented to clinic with progressive right-hand bradykinesia and shuffling gait for 8 months. He was diagnosed with parkinsonism. Brain MRI demonstrated diffusion-weighted imaging (DWI)–hyperintense signal involving bilateral corona radiate (figure 1) and T2-weighted MRI showed white matter changes (figure 2). Colony-stimulating factor 1 receptor ( CSF1R ) gene sequencing revealed the pathogenic variant c.2381T>C(p.Ile794Thr), confirming the diagnosis of hereditary diffuse leukoencephalopathy with spheroids.1 The patient was treated with levodopa and selegiline with minimal response.2

We report a sporadic case of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) confirmed by biopsy and colony-stimulating factor 1 receptor ( CSF1R) sequencing. A 28-year-old woman developed progressive spastic gait and dysarthria. Brain T2/FLAIR-weighted magnetic resonance imaging showed bilateral high signal intensity lesions in the parietal deep white matter, which subsequently extended anteriorly. Biopsied brain specimens demonstrated demyelinated white matter tissue with axonal spheroids infiltrated with foamy macrophages, and CD8+ and CD4+ T cells. She had a heterozygous mutation, c.2381T>C (p.782 Ile>Thr), in CSF1R. This is the first genetically proven case of HDLS mimicking primary progressive multiple sclerosis.

Background Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Involvement of the optic nerves in hereditary diffuse leukoencephalopathy is rare. Case presentation We report the case of a 30-year-old Chinese woman with HDLS, who carried a heterozygous c.2345 G > A (p.782Arg > His) mutation in exon 18 of CSF1R. She developed a gradual decline in motor ability, as well as cognitive and visual function, over the course of 4 months. Brain T2 fluid-attenuated inversion recovery-weighted magnetic resonance imaging revealed high signal lesions in the bilateral frontoparietal and periventricular deep white matter. Optical coherence tomography showed that the right peripapillary retinal nerve fiber layer was atrophic in the temporal quadrant while the left peripapillary retinal nerve fiber layer was thin in the temporal superior quadrant. Conclusions A diagnosis of HDLS should be considered in patients with white matter lesions and optic nerves injury upon magnetic resonance imaging that mimics progressive multiple sclerosis.

Very little is known regarding neuroimaging findings in patients with congenital rubella syndrome. We report a 1.9-year-old boy with congenital rubella syndrome who presented in the neonatal period with severe multisystem involvement and diffuse leukoencephalopathy with subcortical anterior temporal cysts, which showed spontaneous improvement during a period of 3 years.

Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encoded subunit of complex 1. Diffuse leukoencephalopathy may be a presentation of complex 1 deficiency.

A 52-year-old right-handed man reported 2 years of progressive word-finding difficulties. He noticed hesitations when retrieving words and difficulty writing and calculating while working in his carpentry business. He was taking pravastatin for hyperlipidemia. Memantine was started prior to our clinical evaluation, and had no measurable effect. He had a great aunt with late-life amnestic dementia, his father died at age 59 years from lung cancer, and his mother died at age 75 of unknown causes. He had 18 years of education and no history of learning disabilities.

Department of Neurology, Ludwig-Maximilians-Universitat, Munich, Germany Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universitat, Munich, Germany Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tubingen, Germany CeGaT GmbH, Center for Genomics and Transcriptomics, Tubingen, Germany Department of Neurosurgery, Ludwig-Maximilians-Universitat, Munich, Germany Department of nuclear medicine, Ludwig-Maximilians-Universitat, Munich, Germany Department of Neuroradiology, Ludwig-Maximilians-Universitat, Munich, Germany Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands German Research Center for Neurodegenerative Diseases (DZNE), Ludwig-Maximilians-Universitat, Munich, Germany

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant cerebral white matter degeneration leading to progressive cognitive and motor dysfunction. The peripheral nervous system is generally spared. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. Here we report a new case of HDLS, carrying a mutation in CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a neurodegenerative disease clinically characterized by slowly progressive cognitive decline and motor dysfunction. Neuropathology shows diffuse degeneration in the white matter, with prominent presence of widespread axonal spheroids. To investigate the mechanism underlying HDLS neurodegeneration, we characterized spheroids and examined their development in the degenerated white matter. Analysis revealed that the spheroids are an early neuropathological manifestation in the white matter degeneration and involve axonal component proteins and α-synuclein. The development of spheroids facilitates in initiating neurodegeneration in HDLS.

Cerebral amyloid angiopathy (CAA) is a well-established cause of brain hemorrhage in the elderly. The association of CAA with other structural brain lesions is less well known. We report a 69 year old diabetic woman with dementia of acute onset Cranial CT and MRI showed diffuse leukoencephalopathy with predominant right parieto-occipital distribution. Pathological study demonstrated severe CAA. We review the association of CAA with dementia and leukoencephalopathy.

We read with interest the report by Oboudiyat et al.1 of a patient with diffuse leukoencephalopathy with spheroids (DLS) presenting with nonfluent aphasia. We followed a left-handed patient presenting in his mid-40s with rapidly progressive stuttering, apraxia of speech, emotional lability, tremor, and unsteady gait. Neurologic examination showed impaired word fluency and sentence …

Two different types of dementia and corresponding neuropathological findings of patients with human immunodeficiency virus (HIV) infection are presented. In one case, "subcortical" dementia with slow movements and mental processes as well as problems in active recall but without focal defects corresponded to diffuse leukoencephalopathy. In another case, "cortical" dementia with impaired abstraction and memory as well as several focal defects corresponded to microglial nodules in cortical and in deep grey matter, with only a mild diffuse leukoencephalopathy. Thus, in contrast to earlier interpretations, subcortical dementia does not appear to be the only form of dementia in HIV-infected patients, and cortical dysfunction may also occur.

Several mitochondrial diseases are known to occasionally involve the cerebral white matter, but in these cases the major findings are involved in the basal ganglia and brainstem. We report a case of diffuse white matter involvement in an infant with mitochondrial disease that was diagnosed via mitochondrial DNA analysis. Mitochondrial disease should be considered in the diagnosis of diffuse leukoencephalopathy in infancy.

We report two cases of malignant hypertension with reversible diffuse leukoencephalopathy demonstrating a nocturnal blood pressure (BP) rising pattern ("riser" pattern). Case 1 was a 54-year-old man diagnosed with malignant hypertension who presented with diffuse leukoencephalopathy and nocturnal BP rise during the acute phase. These abnormal findings diminished after treatment of hypertension. Case 2 was a 50-year-old woman diagnosed with malignant hypertension in association with leukoencephalopathy, heart failure and acute renal failure. She also presented with a "riser" pattern during the acute phase. In contrast to case 1, the leukoencephalopathy and "riser" pattern in case 2 were not improved even after 1 month of treatment. Following intensive antihypertensive treatment, renal failure was improved in case 1, but renal failure was not improved after 1 month in case 2. In conclusion, a possible explanation of this phenomenon is that a causative volume overload due to renal dysfunction produced the temporal leukoencephalopathy-like brain edema and "riser" pattern in these cases.

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family. (J Child Neurol 2000;15:690-693).