Bilateral Striatal Necrosis Research Articles

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

The MRPS36 gene encodes a recently identified component of the 2-oxoglutarate dehydrogenase complex (OGDHC), a key enzyme of the Krebs cycle catalyzing the oxidative decarboxylation of 2-oxoglutarate to succinyl-CoA. Defective OGDHC activity causes a clinically variable metabolic disorder characterized by global developmental delay, severe neurological impairment, liver failure, and early-onset lactic acidosis. We investigated the molecular cause underlying Leigh syndrome with bilateral striatal necrosis in two siblings through exome sequencing. Functional studies included measurement of the OGDHC enzymatic activity and MRPS36 mRNA levels in fibroblasts, assessment of protein stability in transfected cells, and structural analysis. A literature review was performed to define the etiological and phenotypic spectrum of OGDHC deficiency. In the two affected brothers, exome sequencing identified a homozygous nonsense variant (c.283G>T, p.Glu95*) of MRPS36. The variant did not affect transcript processing and stability, nor protein levels, but resulted in a shorter protein lacking nine residues that contribute to the structural and functional organization of the OGDHC complex. OGDHC enzymatic activity was significantly reduced. The review of previously reported cases of OGDHC deficiency supports the association of this enzymatic defect with Leigh phenotypic spectrum and early-onset movement disorder. Slightly elevated plasma levels of glutamate and glutamine were observed in our and literature patients with OGDHC defect. Our findings point to MRPS36 as a new disease gene implicated in Leigh syndrome. The slight elevation of plasma levels of glutamate and glutamine observed in patients with OGDHC deficiency represents a candidate metabolic signature of this neurometabolic disorder. © 2024 International Parkinson and Movement Disorder Society.

Severe and rare neurological manifestations following COVID-19 infection in children: A Malaysian tertiary centre experience

IntroductionSince the emergence of COVID-19, we have experienced potent variants and sub-variants of the virus with non-specific neurological manifestations. We observed a surge of the Omicron variant of COVID-19 patients with neurological manifestations where less cases of multisystem inflammatory syndrome in children (MIS-C) were reported. This article describes our experience of children with severe and rare neurological manifestations following COVID-19 infection. MethodsThis is a retrospective observational case series of patients under 18 years old who fulfilled the WHO COVID-19 case definition and were referred to our paediatric neurology unit at Hospital Tunku Azizah Kuala Lumpur. Their demographic data, neurological symptoms, laboratory and supporting investigations, neuroimaging, treatment and outcomes were collected and analysed. ResultsThere were eleven patients with neurological manifestations who fulfilled the WHO COVID-19 case definition. Nine patients presented with seizures and/or encephalopathy, one patient with eye opsoclonus and another patient with persistent limbs myokymia. Based on the history, clinical, electrophysiological and radiological findings, two of them had febrile infection-related epilepsy syndrome, two had acute disseminated encephalomyelitis, two had acute necrotising encephalopathy of childhood, one each had hemiconvulsion-hemiplegia-epilepsy syndrome, acute encephalopathy with bilateral striatal necrosis, hemi-acute encephalopathy with biphasic seizures and reduced diffusion, infection-associated opsoclonus and myokymia. ConclusionsThis case series highlighted a wide spectrum of neurological manifestations of COVID-19 infection. Early recognition and prompt investigations are important to provide appropriate interventions. It is essential that these investigations should take place in a timely fashion and COVID-19 quarantine period should not hinder the confirmation of various presenting clinical syndromes.

SLC25A19 Mutation-Related Bilateral Striatal Necrosis and Limbic System Involvement: A Case Report and Review of the Literature

SLC25A19 Mutation-Related Bilateral Striatal Necrosis and Limbic System Involvement: A Case Report and Review of the Literature

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.

The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent inflammatory phenotypes. With emerging therapeutic options, recognition of these disorders is increasingly important, and neuroimaging plays a vital role. In this article, we discuss the wide spectrum of neuroradiologic features associated with monogenic interferonopathies by reviewing the literature and illustrate these with cases from our institutions. These cases include intracerebral calcifications, white matter T2 hyperintensities, deep WM cysts, cerebral atrophy, large cerebral artery disease, bilateral striatal necrosis, and masslike lesions. A better understanding of the breadth of the neuroimaging phenotypes in conjunction with clinical and laboratory findings will enable earlier diagnosis and direct therapeutic strategies.

A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood.

Background: Bilateral striatal necrosis (BSN) is characterized by symmetrical degeneration, predominantly of the caudate and putamen nucleus, in the basal ganglia. It is associated with numerous acquired and hereditary neuro-developmental and motor dysfunction-related pathological conditions. BSN results in high morbidity and mortality among infants and children, and its diagnosis is clinically challenging due to several overlapping disease phenotypes. Therefore, a precise genetic diagnosis is urgently needed for accurate genetic counseling and improved prognostic outcomes as well.Objective: To identify novel missense mutations in the NDUFAF5 gene as a cause of childhood BSN in members of a Chinese family and summarize the clinical characteristics of patients with the NDUFAF5 gene mutations.Methods: This study included a large family living in a remote northwestern area of China. Three siblings developed a neurological disorder characterized by generalized dystonia within the first decade of their lives. Cerebral computed tomography (CT) and magnetic resonance imaging (MRI) showed bilateral lesions of the putamen. Biochemical and genetic approaches were used to identify the cause of BSN.Results: Sequence analysis showed no pathogenic variation in PANK2, SLC25A19, SLC19A3, and NUP62 genes and in the entire mitochondrial genome as well. Whole-exome sequencing revealed compound heterozygous mutations consisting of NDUFAF5:c.425A > C(p.E142A) and c.836T > G (p.M279R). The father, a healthy sister, and a healthy brother of the affected siblings carried the c.836T > G mutation, and the mother carried the c.425A > C mutation. These variants were absent in 100 ethnically matched non-BSN controls. In silico analysis demonstrated that the E142A and M279R mutations in NDUFAF5 protein significantly perturbed the normal conformation of the protein due to alterations in the hydrogen bonding patterns around the evolutionarily conserved catalytic domains, leading to its loss of function in the early stage of mitochondrial complex I assembly.Conclusions: We identified a novel compound heterozygous mutation (c.425A > C and c.836T > G) in the NDUFAF5 gene as the potential cause of autosomal recessive childhood BSN, which extended the pathogenic variation spectrum of the NDUFAF5 gene. This study provides substantial evidence for further improvement of genetic counseling and better clinical management of BSN affected individuals.

Bilateral striatal necrosis associated with enterovirus infection.

Bilateral striatal necrosis associated with enterovirus infection.

NUP62 is required for the maintenance of the spindle assembly checkpoint and chromosomal stability.

The nuclear pore protein NUP62 localizes to spindle poles in mitosis and plays a role in maintaining centrosome homeostasis. In this study, we found that NUP62-depleted cells exhibited a defective spindle assembly checkpoint (SAC) and that depletion of NUP62 caused a slight decrease in MAD2 protein levels after nocodazole treatment. However, depletion of NUP62 did not cause a failure in kinetochore localization of the SAC proteins BUBR1, MAD1, and MAD2 in prometaphase. NUP62 depletion slightly prolonged mitotic timing but did not affect cell doubling time. In addition, NUP62 depletion caused a SAC defect and induced aneuploidy in human neural stem cells. Furthermore, overexpression of NUP62Q391P, a mutant protein causing autosomal recessive infantile bilateral striatal necrosis, resulted in a defect in the SAC, indicating that the amino acid residue Q391 in NUP62 is crucial for its effect on the SAC. Overall, we conclude that NUP62 maintains the SAC downstream of kinetochores and thereby ensures maintenance of chromosomal stability.

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.

Progressive immune-mediated neurodegeneration is a central feature of Aicardi-Goutières syndrome (AGS), a monogenic disorder characterized by chronic activation of antiviral type I interferon (IFN).1 Typically, AGS presents as subacute infancy-onset encephalopathy with microcephaly, leukodystrophy, and basal ganglia calcification, resulting in global developmental delay. AGS is either caused by loss-of-function mutations in TREX1 , RNASEH2B , RNASEH2C , RNASEH2A , SAMHD1 , or ADAR , encoding genes involved in the metabolism of nucleic acids, or by gain-of-function mutations in IFIH1 encoding the cytosolic RNA sensor melanoma differentiation-associated protein 5 (MDA5).1 The phenotypic spectrum of IFIH1 -associated mutations includes intracerebral vasculopathy, bilateral striatal necrosis, and isolated spastic paraparesis. The authors are thankful to the family for participation in this study. The authors thank Diana Federl and Kerstin Engel for excellent technical assistance.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

AimTo perform a deep phenotype characterisation in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous NDUFAF6 mutations. MethodA multi-gene panel of childhood-onset basal ganglia neurodegeneration inherited conditions was analysed followed by functional studies in fibroblasts. ResultsThree siblings developed gait dystonia in infancy followed by rapid progression to generalised dystonia and psychomotor regression. Brain magnetic resonance showed symmetric and bilateral cytotoxic lesions in the putamen and proliferation of the lenticular-striate arteries, latter spreading to the caudate and progressing to cavitation and volume loss. We identified a frameshift novel change (c.554_558delTTCTT; p.Tyr187AsnfsTer65) and a pathogenic missense change (c.371T>C; p.Ile124Thr) in the NDUFAF6 gene, which segregated with an autosomal recessive inheritance within the family. Patient mutations were associated with the absence of the NDUFAF6 protein and reduced activity and assembly of mature complex I in fibroblasts. By functional complementation assay, the mutant phenotype was rescued by the canonical version of the NDUFAF6. A literature review of 14 NDUFAF6 patients showed a consistent phenotype of an early childhood insidious onset neurological regression with prominent dystonia associated with basal ganglia degeneration and long survival. InterpretationNDUFAF6-related Leigh syndrome is a relevant cause of childhood onset dystonia and isolated bilateral striatal necrosis. By genetic complementation, we could demonstrate the pathogenicity of novel genetic variants in NDUFAF6.

Selective Vulnerability of Basal Ganglia: Insights into the Mechanisms of Bilateral Striatal Necrosis.

Selective neuronal death in neurodegenerative disorders represents the final step of a cascade of events, including neuroinflammation, regional-specific reactive gliosis, changes of brain-blood barrier structure and functions, metabolic failure and mitochondrial energy impairment. Bilateral striatal necrosis is usually reported in inherited mitochondrial disorders, suggesting a pathogenetic role of the energy impairment by mitochondrial dysfunction. We investigated mechanisms of the selective striatal degeneration, comparing clinical findings of a patient with an acquired bilateral striatal necrosis and experimental data of a selective basal ganglia degenerative model in rats. In a 70-year-old patient affected by severe parkinsonian syndrome triggered by persistent metabolic acidosis, brain MRI revealed bilateral cystic-lacunar necrosis of basal ganglia. Immunohistochemistry of rat brain sections after single intraperitoneal administration (60 mg/kg) of the mitochondrial toxin 3-nitropropionic acid (3-NP) revealed (i) selective bilateral striatal necrotic/cavitary lesions, (ii) degeneration of striatal medium spiny neurons, (iii) evidence of synaptic and transcriptional dysfunction, and (iv) reactive gliosis (activated microglia and astrocytes) in the striatum. Our data provide an intriguing hypothesis for the selective neuronal degeneration in the striatum, claiming that selective mitochondrial energy impairment associated to loco-regional neuroinflammation and reactive gliosis might contribute to synaptic dysfunction and excitotoxicity that ultimately lead to neuronal degeneration.

Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy

Mitochondrial encephalomyopathies (ME) are complex, incurable diseases characterized by severe bioenergetic distress that can affect the function of all major organ systems but is especially taxing to neuromuscular tissues. Animal models of MEs are rare, but the Drosophila ATP61 mutant is a stable, well-characterized genetic line that accurately models progressive human mitochondrial diseases such as Maternally-Inherited Leigh Syndrome (MILS), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), and Familial Bilateral Striatal Necrosis (FBSN). While it is established that this model exhibits important hallmarks of ME, including excess cellular and mitochondrial reactive oxygen species, shortened lifespan, muscle degeneration, and stress-induced seizures, it is unknown whether it exhibits defects in sleep or circadian function. This is a clinically relevant question, as many neurological and neurodegenerative diseases are characterized by such disturbances, which can exacerbate other symptoms and worsen quality of life. Since Drosophila is highly amenable to sleep and circadian studies, we asked whether we could detect disease phenotypes in the circadian behaviors of ATP61. Indeed, we found that day-time and night-time activity and sleep are altered through disease progression, and that circadian patterns are disrupted at both the behavioral and neuronal levels. These results establish ATP61 as an important model of sleep and circadian disruption in ME that can be studied mechanistically at the molecular, cellular, and behavioral level to uncover underlying pathophysiology and test novel therapies.

F57. EEG findings in pediatric parainfectious acute bilateral striatal necrosis

Acute bilateral striatal necrosis (ABSN) is a clinicoradiological syndrome with different causes: genetic (mostly, inborn errors of metabolism) and acquired. Among these, parainfectious forms are especially relevant, since they may be confused with genetic forms, but carry a better prognosis and may benefit from immunomodulation. ABSN presents with any combination of movement disorders, altered state of awareness and seizures. The latter warrant an EEG, likely to be performed before imaging can confirm the syndromic diagnosis. To describe the electroclinical findings of pediatric patients with confirmed parainfectious ABSN attending our hospital between 01/2015 and 12/2015. Retrospective review of clinical records of patients fulfilling the following: Age at onset ⩽16 years. Onset of movement disorders, altered level of awareness or seizures within 3 weeks of a febrile episode. Acute bilateral neostriatal lesions (enlargement and T2/Flair hyperintensity on MR or hypodensity on CT of caudate and/or putamen bilaterally). Evidence of recent/ongoing infection in biological samples (Direct: Positive culture/PCR; Indirect: Seroconversion/Raising antibody titres). Progressive course after 6 weeks Evidence of a metabolic disorder (Positive genetic testing for pathogenic mutations or confirmed altered enzyme activity/altered biochemical markers in biological samples). Alternative cause. We found 2 cases: 1. 11 year old boy presenting with focal seizures and parkinsonism, 48 h after a febrile episode. MR showed symmetric striatal inflammation and patchy cortical edema, predominantly frontal. CSF analysis showed mononuclear pleocytosis and increased protein. A tracheal aspirate disclosed M. pneumoniae infection. Metabolic screening was negative. Control of seizures was difficult, requiring combined treatment with LEV, LCM, VPA, Antibiotics, IVIG and glucocorticoids. Serial EEGs showed diffuse background slowing and focal asymmetric fronto-temporal slowing (right worse). He was discharged asymptomatic after 13 days, on LEV and LCM, which were stopped over the following 5 months. MR and EEG were normal 3 months after onset. 2: 2 year old girl presenting with parkinsonism, dystonia and bulbar symptoms 7 days after a febrile episode. MR showed symmetric striatal inflammation. CSF analysis was normal, but HHV6 replication was shown in plasma and CSF. EEG was normal. Metabolic screening showed raised urinary 3-OH-glutaric acid, not confirmed on repeated tests. She was treated with foscarnet, IVIG and glucocorticoids and was discharged after 43 days, with mild symptoms. She was asymptomatic at 8 months follow-up. Control MR showed atrophy and cavitation of posterior putamina. EEG allows objective assessment and monitoring of brain function in parainfectious ABSN, when it presents with seizures and/or altered level of awareness. Focal abnormalities may correlate with damage beyond the striatum and into the cortex.

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis

Prompted by findings suggesting immune instability in infantile bilateral striatal necrosis (IBSN), we evaluated levels of proinflammatory (tumor necrosis factor α, interleukin [IL]-1β, IL-6, interferon [IFN]γ) and anti-inflammatory (IL-10 and IL-1ra) cytokines produced by peripheral blood mononuclear cells (PBMC) from 6 children with IBSN and 11 age-matched controls. Compared to controls, non-stimulated PBMC from the IBSN group produced a significantly lower level of IL-1ra (by 38%; p < 0.001) and significantly lower levels of TNFα, IL-1β, and IFNγ (by 36% [p < 0.001], 25% [p = 0.06], and 32% [p < 0.02]) under PBMC stimulation. The severe cachexia manifesting shortly after IBSN onset may impair the immunological state, placing patients at risk of death from hyperpyrexia and sepsis.

Leber's hereditary optic neuropathy: the neurologist point of view

SummaryLeber's hereditary optic neuropathy (LHON) is a neurodegenerative disorder that selectively affects the retinal ganglion cells (RGCs), consequently leading to optic atrophy and loss of central vision. The primary cause is a metabolic dysfunction of mitochondria due to mitochondrial DNA mutations affecting the respiratory complex I. Despite the metabolic defect is systemic and measurable in post‐mitotic tissues, the disease is usually limited to the RGCs and leads to profoundly impaired vision. However, adjunctive neurological features may be present in a subset of LHON patients defining the so‐called “plus” variant phenotype. The most frequent neurological features may be a multiple‐sclerosis‐like disease, basal ganglia involvement with dystonia or spastic dystonia and bilateral striatal necrosis, myoclonus, parkinsonism, peripheral neuropathy, migraine and sensorineural hypoacusia. Neurological exam, brain MRI, MR‐spectroscopy and other ancillary exams may be needed to well characterize the “plus” phenotype of LHON patients. The genetic bases of these LHON “plus” cases are currently unclear, but private mtDNA mutations and nuclear genetic variants may be relevant.

Targeted next generation sequencing in patients with infantile bilateral striatal necrosis

Background: Infantile bilateral striatal necrosis (IBSN) is a heterogeneous histo- pathologically condition defined by the involvement of the neostriata that can be observed in a very large number of neurological conditions clinically dominated by the presence of movement disorders. Methods: In a prospective study over the course of 1 year, we applied targeted next generation sequencing (NGS) of 78 genes linked to IBSN, using Sure Design Tool from Agilent Technologies. In addition, we studied biomarkers of known causes of IBSN, including blood interferon signature and free-thiamine and pterins in CSF. Results: We included 21 patients (16 male, age 1 month to 8 years; media ± SD 2.1 ± 1.6). Onset of symptoms was acute in almost all patients. Interferon signature was altered in two patients with Aicardi-Goutierès syndrome. Low free thiamine and elevated pterins in CSF were detected in 2 and 3 patients, respectively. T2-hyperintensities in other regions besides the neostriata were observed in 3/21 patients. We established firm molecular diagnosis in about 38% (8/21) of patients, with mutations been identified in the following genes: RNASEH2B, IFIH1, PDH1A, ADAR, SLC25A19 and NDUFAF6 (3 patients), including two novel mutations in SLC25A19 (c.580T>C) and ADAR (c.2187_2198delTGGCCTTTTGGAinsGT). We presented here the second reported pedigree of mutation in SLC25A19. The mutation is different as that found in the only other described family with SLC25A19 deficiency. Discussion: Targeted NGS leads to rapid and cost-effective detection of causative mutations in IBSN. We have reached a diagnostic rate similar to that described in the literature. Our study expands the very few descriptions of patients with SLC25A19 mutation.

Bilateral striatal necrosis caused by a founder mitochondrial 14459G > A mutation in two independent Japanese families

Bilateral striatal necrosis (BSN) has many causes and is characterized by unique clinical and neuroradiological features. Herein, we report a clinical and genetic analysis of three BSN cases from two independent Japanese families harboring a mitochondrial DNA (mtDNA) 14459G>A mutation located in a coding region of the NADH dehydrogenase subunit 6 gene. In the first family, two male siblings from non-consanguineous parents exhibited similar phenotypes, with infantile-onset generalized dystonia. A third sporadic case involved a male patient with a comparatively milder phenotype characterized by juvenile-onset mild truncal ataxia and parkinsonism. Cerebral magnetic resonance imaging of these cases revealed abnormal signal intensities along the bilateral putaminal area and enlarged lateral ventricle anterior horns caused by caudate nuclear atrophy, particularly in the sibling pair. The sibling-pair cases shared a homoplasmic 14459G>A mutation, and the sporadic case showed heteroplasmy of the same mutation. Additionally, all three cases harbored the 14605A>G single nucleotide polymorphism, which was previously reported as a rare synonymous variation (4.3%) in a Japanese population. Plasmid sequencing revealed a genetic linkage of these two DNA substitutions, suggesting that the three patients shared a genetic founder. Although our mtDNA analysis was only accessible using leukocytes, clinical severity might be associated with homoplasmy or heteroplasmy. In summary, it is important to evaluate potential mtDNA defects in BSN cases, regardless of familial occurrence.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models. Dosage of respiratory chain activity on fibroblasts, but not in muscle, underlined a deficit in complex I. Re-analysis of heterozygous probably pathogenic variants, inherited from one healthy parent, identified the p.Ala178Pro in NDUFAF6, a complex I assembly factor. RNA analysis showed an almost mono-allelic expression of the mutated allele in blood and fibroblasts and puromycin treatment on cultured fibroblasts did not lead to the rescue of the maternal allele expression, not supporting the involvement of nonsense-mediated RNA decay mechanism. Complementation assay underlined a recovery of complex I activity after transduction of the wild-type gene. Since the second mutation was not detected and promoter methylation analysis resulted normal, we hypothesized a non-exonic event in the maternal allele affecting a regulatory element that, in conjunction with the paternal mutation, leads to the autosomal recessive disorder and the different allele expression in various tissues. This paper confirms NDUFAF6 as a genuine morbid gene and proposes the coupling of exome sequencing with mRNA analysis as a method useful for enhancing the exome sequencing detection rate when the simple application of classical inheritance models fails.

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Neostriatal abnormalities can be observed in a very large number of neurological conditions clinically dominated by the presence of movement disorders. The neuroradiological picture in some cases has been described as "bilateral striatal necrosis" (BSN). BSN represents a condition histo-pathologically defined by the involvement of the neostriata and characterized by initial swelling of putamina and caudates followed by degeneration and cellular necrosis. After the first description in 1975, numerous acquired and hereditary conditions have been associated with the presence of BSN. At the same time, a large number of disorders involving neostriata have been described as BSN, in some cases irrespective of the presence of signs of cavitation on MRI. As a consequence, the etiological spectrum and the nosographic boundaries of the syndrome have progressively become less clear. In this study, we review the clinical and radiological features of the conditions associated with MRI evidence of bilateral striatal lesions. Based on MRI findings, we have distinguished two groups of disorders: BSN and other neostriatal lesions (SL). This distinction is extremely helpful in narrowing the differential diagnosis to a small group of known conditions. The clinical picture and complementary exams will finally lead to the diagnosis. We provide an update on the etiological spectrum of BSN and propose a diagnostic flowchart for clinicians.

Favorable outcome in a child with bilateral striatal necrosis following measles

Acute bilateral striatal necrosis is considered to be a rare heterogeneous entity, in view of the variability of its clinical presentation. We report a 4-year-old girl presented with typical clinical features of measles associated with acute bilateral striatal necrosis. The clinical symptoms were an abrupt onset of seizures, hemiplegia, expressive aphasia and extrapyramidal signs on the seventh day of illness. Serum was positive for measles IgG and IgM. Cranial magnetic resonance imaging showed hyperintensities on T2 weighted images affecting the putamen and caudate nuclei bilaterally. Neurologic recovery occurred within six weeks following therapy with corticosteroids. Repeated magnetic resonance imaging in follow up showed significant resolution of the lesions.