Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.

We report three siblings homozygous for CSF1R variant c.1969 + 115_1969 + 116del to expand the phenotype of "brain abnormalities, neurodegeneration, and dysosteosclerosis" (BANDDOS) and discuss its link with "adult leukoencephalopathy with axonal spheroids and pigmented glia" (ALSP), caused by heterozygous CSF1R variants. We evaluated medical, radiological, and laboratory findings and reviewed the literature.

Clinical and Imaging Features of Patients With Encephalitic Symptoms and Myelin Oligodendrocyte Glycoprotein Antibodies.

Background: Myelin oligodendrocyte glycoprotein-antibody (MOG-ab)-associated disease (MOGAD) has highly heterogenous clinical and imaging presentations, in which encephalitis is an important phenotype. In recent years, some atypical presentations in MOG-ab-associated encephalitis (MOG-E) have been increasingly reported but have not yet been described well. The aim of the study was to describe the clinical and imaging features of patients with MOG-E in our center.

MRI signs of CNS demyelinating diseases.

The differential diagnosis of the central nervous system (CNS) demyelinating diseases can be greatly facilitated by visualization and appreciation of pathognomonic radiological signs, visualized on magnetic resonance imaging (MRI) sequences. Given the distinct therapeutic approaches for each of these diseases, a decisive and reliable diagnosis in patients presenting with demyelination-associated symptoms is of crucial value. Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are major examples of such conditions, each possessing a number of MRI signs, closely associated with the disorder.

Multifocal cavitating leukodystrophy-A distinct image in mitochondrial LYRM7 mutations.

An adult woman presented with insidious onset slowly progressive symmetric spasticity and mild upper extremity dysmetria, with sparing of bowel and bladder functions. She had a distinct magnetic resonance imaging (MRI) pattern of bilateral symmetrical T2 hyperintensity involving periventricular especially parieto-occipital and deep cerebral white matter with multifocal small cavitations which were posterior predominant, sparing subcortical U fibres. Magnetic resonance spectroscopy (MRS) showed lactate peak.

What Can Mimic Multiple Sclerosis?

This article discusses mimics of multiple sclerosis (MS). Excluded in this discussion are neuromyelitis optica and vasculitis, discussed in other articles in this journal. Covered entities include posterior reversible encephalopathy syndrome, reversible vasoconstriction syndrome, acute disseminated encephalomyelitis, Sussac's Syndrome, and chronic idiopathic demyelinating polyneuropathy.

Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.

Adult-onset leukoencephalopathy with spheroids and pigmented glia (ALSP) is an autosomal dominant leukoencephalopathy caused by mutations in colony stimulating factor 1 receptor (CSF1R). Here we report clinical and imaging outcomes following allogeneic haematopoietic stem cell transplantation (HSCT) in two patients with ALSP at the University of California, San Francisco between January 2016 and December 2017. Patient 1 proceeded to transplantation at age 53 with a haplo-identical sibling donor.

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Background: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene.

Hereditary cerebral small vessel diseases: a review.

Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic stroke and diffuse white matter disease leading to vascular dementia. Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed.

Two cases with progressive cystic leukoencephalopathy.

Leukoencephalopathies with cystic changes in the white matter on magnetic resonance imaging are aetiologically heterogeneous neurological disorders seen in children. A group of leukoencephalopathies characterised by white matter lesions progressing to multifocal cystic degeneration has been reported in various disorders, including mitochondrial enzyme deficiencies, leukodystrophies, and infectious processes. We report two patients with leukoencephalopathy showing progressive cystic changes on serial MRI, and magnetic resonance spectroscopy resembling progressive cavitating leukoencephalopathy.

Diagnostic algorithm for the differentiation of leukodystrophies in early MS.

Leukodystrophies are chronic progressive inherited white matter diseases frequently combined with an inborn error of metabolism. Some leukodystrophies clinically resemble chronic variants of multiple sclerosis (MS), while others exhibit multifocal MRI changes mimicking white matter changes known from MS imaging studies. The risk of misdiagnosing leukodystrophy as being MS is especially high in early disease stages comprising the possibility of initiating an inadequate therapy.

Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.

Pigmented orthochromatic leukodystrophy and hereditary diffuse leukoencephalopathy with spheroids are two adult onset leukodystrophies with neuroaxonal spheroids presenting with prominent neurobehavioral, cognitive and motor symptoms. These are familial or sporadic disorders characterized by cerebral white matter degeneration including myelin and axonal loss, gliosis, macrophages and axonal spheroids. We report clinical, neuroimaging and pathological correlations of four women ages 34-50 years with adult onset leukodystrophy.

Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults.

Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy.

The purpose of this paper is to facilitate the comparison of magnetic resonance (MR) spectra acquired from unknown brain lesions with published spectra in order to help identify unknown lesions in clinical settings. The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], hydrocephalus and tuberous sclerosis. Each list includes information on the echo time(s) (TE) of the published spectra, whether a control spectrum is shown, whether the corresponding image and voxel position are shown and the patient ages if known.

Familial multiple sclerosis and other inherited disorders of the white matter.

Background: An objective demonstration of lesions disseminated in time and space remains the core of the last revision of diagnostic criteria for multiple sclerosis (MS), but this update is now empowered by a weighted use of magnetic resonance imaging (MRI), which results in an earlier and more unambiguous diagnosis ("MS," "not MS," or "possible MS"). Nevertheless, the exclusion of other entities still remains an integral element of the diagnostic process.

Review Summary: Exclusion of genetic disorders can be challenging in some cases with familial recurrence of MS, particularly when the transmission is mimicking a mendelian or a maternal pattern of inheritance.

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

We present a two-generation family consisting of a father and two daughters, who had an adult-onset leukodystrophy characterized by widespread destruction of cerebral white matter with neuroaxonal spheroids. The mode of inheritance appears to be autosomal dominant. All three patients presented with a variety of motor and cognitive symptoms, including frontal lobe signs, 4-7 years before death.

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we analysed the seizures and EEG findings of nine patients with MLC.

[Nasu Hakola disease: a report of the first two cases in Bolivia].

Introduction: Nasu Hakola disease (NHD) is a progressive dementia that presents accompanied by bone cysts and, at random, epilepsy. It is an autosomal recessive hereditary disease and its genetic defect is located at the 19q13.1 chromosome.

Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction.

Mitochondrial disease is classically associated with deep gray-matter lesions. When white matter is involved, the lesions are typically subcortical and overshadowed by more significant disease in the gray matter. We report six infants in five families who developed neurodegenerative diseases characterized primarily by abnormalities in deep white-matter structures such as the periventricular region, internal capsule, and corpus callosum.

Bipolar affective disorder heralding cerebral demyelination in adreno-myelo-leukodystrophy.

A young male with adrenomyeloleukodystrophy (AMLD), diagnosed at the age of 25 years, presented with signs of bipolar affective disorder (BPD) concomitant with radiological findings of central demyelination. There was a marked deterioration of the earlier relatively benign neurological dysfunction, leading to fatal bulbar syndrome. The association of BPD with central demyelination in AMLD is in agreement with previously reported cases of this and other types of multifocal central demyelination diseases.

Clinical characteristics of children with cerebral white matter abnormalities.

The rapidly expanding use of magnetic resonance imaging (MRI) in children with neurological impairments of unknown aetiology has revealed a large number of children with abnormalities of the cerebral white matter, some with leukodystrophy-like white matter abnormalities on MRI, but non-progressive in clinical presentation and course. The aim of this study was to investigate the clinical and neuroradiological characteristics of 26 children with white matter abnormalities of unknown origin and to find diagnostic clues or indicators of progressive versus nonprogressive disease. The typical child with white matter abnormalities was characterized by onset of symptoms within the first year of life, most often presenting as general developmental delay and hypotonia.

MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy.

A six-month-old West Highland white terrier with progressive, multifocal neurological disease was diagnosed with canine globoid cell leucodystrophy (GCL). Magnetic resonance imaging (MRI) of the brain was performed, as well as electrophysiological testing (including brainstem auditory evoked response, peripheral nerve conduction velocity, repetitive stimulation, F wave analysis and electromyography). MRI findings were consistent with diffuse, symmetrical white matter disease.

Mycosis fungoides metastasizing to the brain parenchyma: case report.

Objective And Importance: Mycosis fungoides is a rare T-cell lymphoma of the skin that can, in one-half to three-quarters of patients suffering from this disease, involve the viscera in late stages of the disease. Although autopsy series performed more than 2 decades ago showed that the incidence of metastatic mycosis fungoides to the central nervous system is approximately one of seven, a total of only several dozen cases have been reported to date. As compared to meningeal involvement, intraparenchymal metastases are even rarer.

Familial Dandy-Walker malformation and leukodystrophy.

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures.

Disorders of the cerebral white matter in children. The spectrum of lesions.

The use of magnetic resonance imaging (MRI) has resulted in the detection of an increasing number of children with an apparently leukodystrophic white matter. Laboratory tests and the clinical presentation, however, often do not correspond to any known entity and the course is sometimes not progressively deteriorating. Such children with white-matter changes and no known diagnosis were the subject of this Swedish multicentre study, in which MRI findings and clinical data from 100 children considered to have white-matter abnormalities were assessed during the period 1992-1995.

Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.

A 33-year-old male patient was admitted to our hospital because of progressive gait disturbance and involuntary movement of the neck. He showed choroideremia, distal motor neuropathy, and leukoencephalopathy on T2-weighted brain magnetic resonance imaging (MRI). Choroideremia is a rare X-linked, progressive, degenerative disease of retina and choroid.