Patchy White Matter Research Articles

Neurotoxoplasmosis: a 5-year story in the Dominican Republic (P14-10.004)

<h3>Objective:</h3> To describe people living with HIV and neurotoxoplasmosis clinical presentation and common outcomes in the Dominican Republic. <h3>Background:</h3> Despite breakthroughs in HIV testing and ART access, advanced HIV is still a Latin American health concern. The Dominican Republic saw only a 4% reduction in HIV incidence rate during the last 5 years. Suboptimal disease control and opportunistic infections like neurotoxoplasmosis may occur from a lack of specialized healthcare facilities, limited resources, and information availability in remote areas. <h3>Design/Methods:</h3> Retrospective case series study of individuals with HIV and neurotoxoplasmosis diagnosis from 2017 to 2022. Characteristics included demographics, clinical presentation, laboratory, and imaging. Quantitative data was analyzed using dispersion and central tendency, whereas qualitative data was analyzed using frequencies and percentages. <h3>Results:</h3> 37 patients with HIV and neurotoxoplasmosis (mean[SD] age, 37.8[9.55] years; 70.2%[26] men) had a median CD4 count of 24 k/uL (IQR 53) and a mean viral load of 329.3 (SD 258). 64%(24) were noncompliant, not treated, or had uncertain HAART status. 29.7% (11) had anemia, 11.1%(4) myasthenia gravis, and 8.1%(3) hypertension. Oropharyngeal candidiasis 29.7%(11) and Tuberculosis 10.8%(4) were common coinfections. Headache (72.9%[27]), hemiparesis (54.1%[20]), and seizures (51.4%[19]) were the most common neurological symptoms. CT scans showed hypodense lesions (72.4%[21]), mass effect (48.6%[18]), patchy white matter hypodensities (32.4%[12]), and vasogenic edema (27.02%[10]). Within a year, 10.8%(4) had died. <h3>Conclusions:</h3> Although recent advances in HIV management, developing nations still face difficulties in accessing adequate care. HIV patients require continuous monitoring to avoid preventable conditions, such as neurotoxoplasmosis. Given the sociocultural context, what can we do to increase follow-up and HAART adherence? <b>Disclosure:</b> Dr. Cedeño has nothing to disclose. Dr. Agramonte has nothing to disclose. Mr. Rivas has nothing to disclose. Dr. Chacón has nothing to disclose. Dr. Medrano Heredia has nothing to disclose. Miss Montilla has nothing to disclose. Dr. Abreu Guaba has nothing to disclose. Mr. Acra-Tolari has nothing to disclose. Mrs. Rojas Fermin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Mrs. Rojas Fermin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Msd. Mrs. Rojas Fermin has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Mejia has nothing to disclose.

Loss of the heterogeneous expression of flippase ATP11B leads to cerebral small vessel disease in a normotensive rat model

Cerebral small vessel disease (SVD) is the leading cause of vascular dementia, causes a quarter of strokes, and worsens stroke outcomes. The disease is characterised by patchy cerebral small vessel and white matter pathology, but the underlying mechanisms are poorly understood. This microvascular and tissue damage has been classically considered secondary to extrinsic factors, such as hypertension, but this fails to explain the patchy nature of the disease, the link to endothelial cell (EC) dysfunction even when hypertension is absent, and the increasing evidence of high heritability to SVD-related brain damage. We have previously shown the link between deletion of the phospholipase flippase Atp11b and EC dysfunction in an inbred hypertensive rat model with SVD-like pathology and a single nucleotide polymorphism (SNP) in ATP11B associated with human sporadic SVD. Here, we generated a novel normotensive transgenic rat model, where Atp11b is deleted, and show pathological, imaging and behavioural changes typical of those in human SVD, but that occur without hypertension. Atp11bKO rat brain and retinal small vessels show ECs with molecular and morphological changes of dysfunction, with myelin disruption in a patchy pattern around some but not all brain small vessels, similar to the human brain. We show that ATP11B/ATP11B is heterogeneously expressed in ECs in normal rat and human brain even in the same transverse section of the same blood vessel, suggesting variable effects of the loss of ATP11B on each vessel and an explanation for the patchy nature of the disease. This work highlights a link between inherent EC dysfunction and vulnerability to SVD white matter damage with a marked heterogeneity of ECs in vivo which modulates this response, occurring even in the absence of hypertension. These findings refocus our strategies for therapeutics away from antihypertensive (and vascular risk factor) control alone and towards ECs in the effort to provide alternative targets to prevent a major cause of stroke and dementia.

EP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

The RAB11B gene (OMIM: 604198) encodes for a GTP-binding protein within the Rab11 GTPase subfamily which is associated with the regulation of exocytic and endocytic pathways. It also plays an essential role in ciliogenesis and vesicular trafficking. Pathogenic variants in RAB11B were first described in five patients in 2017. Subsequently, an additional patient was diagnosed through the Korean Undiagnosed Diseases Program (KUDP) in 2019. Clinical features shared by these patients were predominantly a neurological phenotype, including global developmental delay, epilepsy, hypotonia and gait disturbances. Ophthalmological, musculoskeletal, dermatological, and urological findings were also reported in some patients. MRI brain abnormalities were present in many of these patients and include decrease in white matter volume, patchy white matter signals, cerebellar hypoplasia, ventriculomegaly, thin corpus callosum and atypical partial rhombencephalosynapsis. Here we describe a 6-year-old male with previously unreported clinical findings of congenital heart defect in this disorder. A 5-year-old term male presented with prenatal complications of fetal congenital heart disease, maternal hypertension and maternal gestational diabetes. Fetal echocardiogram identified a tetralogy of Fallot (TOF) and post-natal echocardiogram confirmed the TOF with pulmonary valve atresia and 2 aorto-pulmonary collateral vessels from the descending aorta. Clinical examination at birth revealed bilateral congenital vertical talus but no other dysmorphic features. Fluorescent in-situ hybridization test for 22q11.2 deletion was negative. Chromosomal microarray analysis revealed a 133kb deletion of uncertain significance on chromosome 5q14.3. A head and renal ultrasound was normal at birth. He was diagnosed with congenital nystagmus and microcoria at 6 months of age with low amplitude on visual evoked potential testing. MRI brain revealed an extremely hypoplastic corpus callosum and brainstem, bilateral optic nerve hypoplasia, marked depletion of white matter and delayed myelination. He requires a G-tube for feeding. He has significant global developmental delays and is non-verbal. A clinical trio exome sequencing revealed a de novo, heterozygous, missense variant of unknown significance in the RAB11B gene (c.64 G>A; p.al22Met). This variant has since been re-classified as a pathogenic variant based on the published case series of 6 other individuals with similar phenotype. Given the fact that RAB11B is highly expressed in brain, cardiac and testicular tissue with various roles in ciliogenesis and vesicular trafficking, this patient’s cardiac defect is likely secondary to the pathogenic variant the RAB11B gene. We present this case of a de novo, heterozygous RAB11B variant presenting with a congenital heart defect in addition to a neurodevelopmental phenotype, thus expanding the phenotypic spectrum of this rare disorder.

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy. In view of the diagnostic challenges, we studied the clinical, neuroradiological, and biochemical features of 15 patients (11 females and 4 males) with SLC35A2-CDG from various centers. We describe nine novel pathogenic variations in SLC35A2. All affected individuals presented with a global developmental delay, and hypotonia, while 70% were nonambulatory. Epilepsy was present in 80% of the patients, and in EEG hypsarrhythmia and findings consistent with epileptic encephalopathy were frequently seen. The most common brain MRI abnormality was cerebral atrophy with delayed myelination and multifocal inhomogeneous abnormal patchy white matter hyperintensities, which seemed to be nonprogressive. Thin corpus callosum was also common, and all the patients had a corpus callosum shorter than normal for their age. Variable dysmorphic features and growth deficiency were noted. Biochemically, normal mucin type O-glycosylation and lipid glycosylation were found, while transferrin mass spectrometry was found to be more specific in the identification of SLC35A2-CDG, as compared to routine screening tests. Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2-CDG, our data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2.

Bestrophin-3 Expression in a Subpopulation of Astrocytes in the Neonatal Brain After Hypoxic-Ischemic Injury

Bestrophin-3, a potential candidate for a calcium-activated chloride channel, recently was suggested to have cell-protective functions. We studied the expression and alternative splicing of bestrophin-3 in neonatal mouse brain and after hypoxic-ischemic (HI) injury and in human neonatal brain samples. HI brain injury was induced in 9-day old mice by unilateral permanent common carotid artery occlusion in combination with exposure to 10% oxygen for 50 min. Endoplasmic reticulum stress was induced by thapsigargin treatment in primary culture of mouse brain astrocytes. We also investigated expression of bestrophin-3 protein in a sample of human neonatal brain tissue. Bestrophin-3 protein expression was detected with immunohistochemical methods and western blot; mRNA expression and splicing were analyzed by RT-PCR. HI induced a brain tissue infarct and a pronounced increase in the endoplasmic reticulum-associated marker CHOP. Three days after HI a population of astrocytes co-expressed bestrophin-3 and nestin in a penumbra-like area of the injured hemisphere. However, total levels of Bestrophin-3 protein in mouse cortex were reduced after injury. Mouse astrocytes in primary culture also expressed bestrophin-3 protein, the amount of which was reduced by endoplasmic reticulum stress. Bestrophin-3 protein was detected in astrocytes in the hippocampal region of the human neonatal brain which had patchy white matter gliosis and neuronal loss in the Sommer’s sector of the Ammon’s horn (CA1). Analysis of bestrophin-3 mRNA in mouse brain with and without injury showed the presence of two truncated spliced variants, but no full-length mRNA. Total amount of bestrophin-3 mRNA increased after HI, but showed only minor injury-related change. However, the splice variants of bestrophin-3 mRNA were differentially regulated after HI depending on the presence of tissue injury. Our results show that bestrophin-3 is expressed in neonatal mouse brain after injury and in the human neonatal brain with pathology. In mouse brain bestrophin-3 protein is upregulated in a specific astrocyte population after injury and is co-expressed with nestin. Splice variants of bestrophin-3 mRNA respond differently to HI, which might indicate their different roles in tissue injury.

Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is arare hereditary disease presenting with distinct imaging features in middle-aged adults. This article describes the typical imaging features focusing on the longitudinal course of RVCL-S lesions. In this study six subjects (five male, five related) with RVCL-S were retrospectively included from two university hospitals. The median age of symptom onset was 40 ± 6years. Magnetic resonance imaging (MRI) covering baseline and amedian follow-up period of 33months was reviewed in astructured way focusing on morphology, contrast enhancement and diffusion restriction of brain lesions. All patients showed patchy, T2 hyperintense white matter lesions (mean number 7.7 ± 1.8) with aperiventricular predominance at the frontal lobes (59%). In all subjects, rim-enhancing white matter lesions with temporary diffusion restriction were present for a mean of 5.0 ± 3.9months. Median duration of blood brain barrier disruption was 20months. Periventricular patchy white matter lesions in the frontal lobes as well as rim-enhancing lesions with prolonged diffusion restriction and long-lasting contrast enhancement are characteristic imaging findings in RCVL-S and can be helpful in the differential diagnosis.

Brain MRI Features of CSF Human Immunodeficiency Virus Escape.

HIV infection of the central nervous system (CNS) is a nearly universal feature of untreated systemic HIV infection. While combination antiretroviral therapy (ART) that suppresses systemic infection usually suppresses CNS (CNS) HIV infection, exceptions have been reported with discordance between CSF and blood HIV RNA concentrations such that CSF demonstrates higher HIV concentrations than blood, referred to as CSF HIV escape. Rarely, CSF HIV escape presents with neurological symptoms, called neurosymptomatic escape. In this report, we describe the MRI findings in 6 patients with neurosymptomatic escape who were identified at our institution. MR imaging suggests an encephalitis possibly evolving from a distinct HIV subpopulation within the CNS. A major difference between primary HIV infection and the current case series is that untreated HIV encephalitis usually occurs in the setting of late disease and a low CD4 whereas CSF Escape develops in setting of a higher CD4, as well as more robust immune and inflammatory responses. Our findings show a burden and distribution of white matter signal abnormalities atypical for patients adherent to ART and that differs from that seen in untreated HIV encephalitis and leukoencephalopathy. Moreover, these patients may also demonstrate perivascular enhancement, a finding not previously reported in the CSF HIV escape literature. Recognition of these imaging characteristics-patchy subcortical white matter intensities and a perivascular pattern of enhancement-may be helpful in recognition and, along with other clinical information and CSF findings, in diagnosis of neurosymptomatic escape.

Inflammatory cerebral amyloid angiopathy

Inflammatory cerebral amyloid angiopathy (CAA) typically affects older patients who present with acute or subacute cognitive decline, headache, behavioral change, seizures, and focal neurological deficits. Brain magnetic resonance imaging (MRI) reveals patchy or confluent asymmetric white matter hyperintensities on T2-weighted or fluid-attenuated inversion recovery images, which indicates vasogenic edema, and previous lobar hemorrhages and/or multiple lobar microbleeds on T2^*-weighted gradient-recalled echo or susceptibility-weighted imaging. Neuropathological findings include frank vasculitis and/or perivascular inflammation with mononuclear or multinucleated giant cells that are associated with amyloid-beta (Aβ)-laden vessels. Importantly, these findings suggest that these patients may respond well to immunosuppressive treatment with high-dose corticosteroids and/or cyclophosphamide. The pathogenesis of this syndrome is still unknown, although anti-Aβ autoantibodies in the cerebrospinal fluid may mediate inflammatory processes against cerebrovascular Aβ. Moreover, MRI findings in patients with inflammatory CAA are very similar to those in patients with Alzheimer's disease who were treated with a monoclonal anti-Aβ antibody, and these findings are called amyloid-related imaging abnormalities (ARIA). Anti-Aβ autoantibodies in the cerebrospinal fluid might be a biomarker of future disease-modifying therapies for patients with Alzheimer's disease and CAA.

Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.

Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin. We retrospectively reviewed the clinical, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2-8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution. Brain MR imaging showed bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic. Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.

G471 Somatic mosaicism in X-linked PDHA1 gene – a cause of developmental delay and epilepsy

BackgroundPyruvate dehydrogenase complex (PDHc) deficiency is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1α subunit gene (PDHA1). PDHc plays a critical role...

AUTOIMMUNE GABAB ANTIBODY ENCEPHALITIS ASSOCIATED WITH NON–MALIGNANT LUNG LESION

GABAb receptor autoimmune encephalitis is a potentially treatable disorder characterised by seizures, memory deficits, increased anxiety and mood dysregulation. In some patients it is associated with small–cell lung cancer and...

A Case of Central Nervous System Lymphoma Manifesting as Multiple Patchy White Matter Lesions with a Past History of Tonsil Lymphoma

Lymphoma of the central nervous system (CNS) parenchyma is known to present as a well-demarcated mass with strong and homogenous gadolinium enhancement in the periventricular and/or superficial region. We report a case of central nervous system lymphoma (CNSL) manifesting as multiple white matter lesions with non-tumorous patchy or ring-like enhancement and partial spontaneous resolution on magnetic resonance imaging (MRI). Such findings are unusual and could lead to misdiagnosis without pathological evaluation.

Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease with rarer neurological presentation. When this occurs, diagnosis may be delayed. This report aims to call attention to clinical, laboratory, and radiological features that should prompt the correct diagnosis. A 13-year-old girl presented with progressive increase in intracranial pressure and ataxia. MRI showed a diffuse tumor-like swelling of the cerebellum with tonsillar herniation and patchy white matter post-contrast enhancement. Regression of swelling with steroids ruled out glioma and medulloblastoma, and brain lymphoma was considered. Diagnosis of HLH was reached 2 months after onset when uncontrolled fever and severe elevation of liver enzymes occurred. Two bone marrow biopsies were needed to demonstrate hemophagocytosis. Familial HLH was confirmed by perforin gene mutations. Bone marrow transplantation was performed. The early diagnosis of HLH may be life saving. Awareness of the disease is necessary to investigate its characteristic findings, thus avoiding a delay in diagnosis.

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy

Purpose: Neuro-ophthalmologic and neuroimaging features of partial chromosome 18p deletion syndromes have not yet been fully described.Methods: Careful neuro-ophthalmologic and neuroimaging evaluation of a young woman with a partial 18p deletion, including 3 Tesla MRI and diffusion tensor imaging, cytogenetic analysis on GTG-banded chromosomes, and 244K array CGH analysis.Results: This 17-year-old girl had modest mental retardation, facial dysmorphism, other characteristics typical of 18p deletion syndrome, and anomalous optic disks. MRI showed enlarged third and lateral ventricles, a thin corpus callosum and patchy white matter signal hyperintensities without enhancement, while diffusion tensor imaging (DTI) revealed significant abnormalities of the corpus callosum with relative sparing of the corticospinal tracts. She had a de novo 14.6 Mb deletion on chromosome 18p [del(18)(p11.2>pter)], a region including 143 genes, only 10 of which were likely candidates for phenotypic expression.Conclusions: This young woman had clinical features similar to those described previously with the 18p deletion syndrome, including moderate mental retardation and dysmorphism without focal neurologic signs. She was myopic, like other 18p deletion patients, supporting the concept that 18p contains a candidate locus for myopia. She also had anomalous optic disks, a feature that may be more common in this syndrome than previously recognized. MRI revealed enlarged ventricles and white matter abnormalities that may be explained in part by haploinsufficiency of ADCYAP1 and LPIN2 in the deleted region of chromosome 18.

Age-related White Matter Hyperintensities Attenuated by Compression from a Chronic Subdural Hematoma: Possible Contribution of Brain Interstitial Fluid to the Formation of Leukoaraiosis

The origin of patchy white matter hyperintensities commonly seen in the elderly on magnetic resonance (MR) images with long repetition time (TR) is still controversial. We describe MR findings in older patients in whom white matter hyperintensities were attenuated by compression of the cerebral hemisphere from a chronic subdural hematoma. These sequential MR findings substantiate the hypothesis that leukoaraiosis may arise when drainage of the bulk flow of brain interstitial fluid is disturbed.

Two cases of LENAS: diagnosis by MRI and biopsy

Sirs: LENAS (leukoencephalopathy with axonal spheroids) is a rare progressive disorder affecting the cerebral and cerebellar white matter. It belongs, as Naso-Hakola disease and dermatoleukodystrophy with spheroids to the group of neuroaxonal dystrophies. Patients present with cognitive, behavioral and gait dysfunction. Histopathologically the disease is characterized by neuroaxonal spheroids, axonal degeneration and neuronal loss. Up to date all published cases have been diagnosed post mortem by necropsy. Here we report two cases diagnosed intra vitam by MRI and confirmed by biopsy. A 42-year-old male presented with progressive behavioral and neurological dysfunction over 12 months. He suffered from psychomotoric slowdown, disorganization, lack of motivation and social withdrawal. Cognitive deficits included slow speech with reduced vocabulary, loss of memory, impaired concentration and reduced orientation with respect to time and space. Comprehension and perception were normal. There was no family history of dementia. A neuropsychological examination revealed reduced brain function with global deficits. No other focal neurological deficits were detected. Routine laboratory tests were negative. The lumbar puncture was without pathologic findings. A muscle biopsy excluded a mitochondrial encephalopathy. The EEG showed bitemporal slowdown and mild general changes. Histopathology and chemistry excluded PML, CADASIL and MELAS. The second patient presented with virtually identical symptoms developing within 6 months without pathological findings in clinical and laboratory examinations. Her mother having suffered from an unknown type of dementia died at the age of 52. MRI demonstrated in both patients widening of the frontal horns, periventricular high signal lesions in T2 w images and patchy white matter lesions frontal and parietal. There was thinning and high signal of the rostral callosal body in T2 w images. The frontopolar subarachnoid spaces were enlarged. Because of the rapid deterioration of the clinical status both patients underwent brain biopsy. It disclosed in both cases multiple homogenous spongious structures (axonal spheroids) and marked thinning of myelin layers, but no complete demyelinization (Fig. 1C). There was no apparent loss of myelinated fibers. Scattered macrophages with non-metachromatic lipid granules were seen. The second patient was followed up after another six months with progressive findings in the MRI. DiffuLETTER TO THE EDITORS

Linfoistiocitosi eritrofagocitica

Erithrophagocytic lymphohistiocytosis is a rare disease characterized by exaggerated histiocytic proliferation and activation12 and multisystem involvement including visceral organs, lymph nodes, bone marrow and central nervous system4. Magnetic Resonance (MR) examination was performed in 10 patients with previously diagnosed Erithrophagocytic lymphohistiocytosis. This study was aimed at assessing MR accuracy in the identification and characterization of central nervous system lesions. MR findings show a good correlation with areas of parenchymal and meningeal lymphohistiocytic infiltration5, demonstrating diffuse white matter abnormalities in the early stages and necrotic areas with parenchymal volume loss as terminal findings4. In addition, MR allows the follow-up after chemotherapy and bone marrow transplantation2,3. Although rare, EL should be differentiated from other pediatric patchy white matter abnormalities5.

Leukoencephalopathy with patchy lesions, temporal cystic degeneration, and normal head size

A 5 yr old girl is reported with patchy white matter lesions, cystic degeneration of the temporal tips, normal cortex, and normal cerebellum, documented by FLAIR, and diffusion-weighted MRI. This condition differed from the entity megalencephalic leukoencephalopathy with cysts by lack of diffuse involvement of the white matter and cortical thinning, by presence of a normal head size, and existence of a non-progressive, severe clinical condition. Occurrence of cystic degeneration in the temporal tips distinguished the condition from other leukoencephalopathies. This leukoencephalopathy appears to be a new distinct entity.

Neuropsychiatric Significance of Subcortical Hyperintensity

Neuropsychiatric Significance of Subcortical Hyperintensity