Ring-enhancing lesions (RELs) of the brain are frequently encountered but often pose diagnostic challenges. In tropical countries like India, neurocysticercosis (NCC) and tuberculomas are among the most common causes of intracranial RELs. Accurately distinguishing between the two is critical for appropriate treatment. To our knowledge, no prior study has combined synthetic MRI-derived parameters with DCE-MRI metrics to address this specific diagnostic dilemma. Out objective is to assess the diagnostic utility of relaxometry metrics from synthetic MRI, magnetization transfer ratio (MTR), and the volume transfer constant (K-trans) from dynamic contrast-enhanced (DCE) MRI in differentiating NCC from tuberculomas. This prospective study included 53 patients with ring-enhancing brain lesions (24 NCC, 29 tuberculomas). All underwent conventional MRI, synthetic MRI, MT imaging, and DCE-MRI. Quantitative parameters (R1, R2, proton density, MTR, and K‑trans) were extracted from the lesion core, wall, and surrounding edema and analyzed using non-parametric statistical tests. Tuberculomas demonstrated significantly higher pre-contrast R1 and R2 values in the core than NCC. A core R2 cutoff of ≤ 15.90 s⁻1 yielded 100

Background: Tuberculous meningitis (TBM) in children causes high mortality and frequent disability. Intensified anti-tuberculosis treatment (ATT) and adjunctive aspirin may improve outcomes. Methods: SURE (ISRCTN 40829906) was a factorial, partially blinded, randomised-controlled trial in African (Zimbabwe, Zambia, Uganda) and Asian (India, Vietnam) children (29 days to <18 years) with confirmed or suspected TBM. Participants were randomised to receive intensified-ATT [isoniazid(20mg/kg), rifampicin(30mg/kg), pyrazinamide(40mg/kg), levofloxacin(20mg/kg) daily for 24-weeks] or standard-ATT [isoniazid(10mg/kg), rifampicin(15mg/kg), pyrazinamide(35mg/kg), ethambutol(20mg/kg) daily for 8 weeks, then isoniazid(10mg/kg) and rifampicin(15mg/kg) for 40 weeks] and simultaneously to receive aspirin(20mg/kg) or placebo daily for 8 weeks; all received corticosteroids for 8 weeks. Primary outcomes for ATT and aspirin/placebo randomisations were mortality and modified Rankin Scale (mRS) respectively at 48 weeks, analysed by modified-intention-to-treat. We specified a 10% non-inferiority margin for ATT and 16% minimal clinically significant difference for aspirin. Findings: Between March 2021 and July 2024, 369 children were randomised; five children were lost-to-follow-up before week-48, and 17 had no week-48 mRS. 174(47%) were female; median(IQR) age was 4.8(1.3-10) years, 15(4%) were HIV-infected, and 203(55%) had moderate/severe (MRC grade 2/3) disease. 29/177(16%) randomised to intensified-ATT died versus 21/181(12%) standard-ATT (adjusted risk difference 5.1%; 95% confidence interval -1.7% to +12.0%; p=0.14), not meeting the 10% non-inferiority margin. Severe disability/death (mRS 5/6) occurred in 38/176(22%) children randomised to aspirin versus 25/170(15%) placebo (adjusted odds ratio 1.80; 95%CI 0.95-3.41; p=0.07). Grade 3/4 adverse events were more frequent in intensified-ATT than standard-ATT (86/186(46%) versus 65/183(36%); p=0.03). Drug-liver injury (grade 2 or above) were also more frequent (64/186(34%) versus 32/183(17%); p<0.001). Grade 3/4 adverse events were also more frequent with aspirin than placebo 86/185(46%) versus 65/184(35%); p=0.03); bleeding events were rare and similar between arms. Interpretation: Neither 24-week intensified-ATT nor aspirin improved outcomes in children with TBM. New therapeutic strategies are urgently needed to increase survival and reduce disability from TBM.

BackgroundBiotinidase deficiency (BTD) is a rare, autosomal-recessive neurometabolic disorder due to biallelic pathogenic variants in the BTD gene. Diffuse leukoencephalopathy with diffusion restriction on neuroimaging is a rare but reversible radiologic pattern associated with BTD.ObjectivesTo describe the clinico-radiologic profile of 3 children with genetically confirmed profound BTD presenting with diffuse leukoencephalopathy and diffusion restriction, and to compare findings with similar cases reported in the literature.MethodsConsecutive children attending the pediatric neurology clinic were evaluated for early-onset seizures, developmental delay, respiratory symptoms, and encephalopathy. Clinical, biochemical, genetic, neurophysiological, and magnetic resonance imaging findings were analysed. Whole exome sequencing confirmed BTD gene variants. A systematic PubMed search and literature review were conducted using specified MeSH terms to identify similar cases.ResultsThree male children from 2 families were evaluated. All cases had early-onset seizures, developmental delay, and profound biotinidase deficiency. Stridor was noted in 2 cases. Genetic analysis identified 2 pathogenic BTD variants: homozygous, frameshift deletion (c.38_44delinsTCC; p.Cys13PhefsTer36), and another homozygous, nonsense variant (c.946C>T; p.Gln316Ter). Neuroimaging revealed diffuse leukoencephalopathy with intense diffusion restriction in all, which reversed completely with biotin supplementation. Seizures and encephalopathy resolved while optic neuropathy progressed despite treatment. Literature review identified 13 additional cases with diffusion restriction, and all of them had an early presentation.ConclusionsProfound BTD may present with diffuse leukoencephalopathy and diffusion restriction, mimicking neuroinflammatory or degenerative conditions. This reversible metabolic disorder should be considered in the differential diagnosis of pediatric white matter disorders. Early diagnosis and biotin supplementation are crucial for neurologic recovery although optic and auditory neuropathy may progress despite treatment.

BACKGROUND:The purpose of this research is to study the neurological consequences of infantile vitamin B12 deficiency on the developing brain. METHODS:A prospective cohort study was done in consecutive children with Infantile B12 deficiency. Clinical evaluation, developmental assessment, blood investigations, and a magnetic resonance imaging (MRI) of the brain were performed at baseline and after therapy with injectable vitamin B12. RESULTS:Among 141 children (median age-13 months), developmental delay was observed in 131 (93%), and 79 (56%) had regression. Eighty (57%) babies had head circumference of < -2 Z score. At baseline, the MRI of the brain was abnormal in 137 (97.2%), showing thinning of corpus callosum (n = 133, 94.3%), cerebral cortical atrophy (n = 128, 90.8%), cerebellar atrophy (n = 126, 89.4%), atrophy of midbrain (n = 81, 57.4%) and pons (n = 78, 55.3%). A follow-up MRI done in 98 (69.5%) showed 66 (67%) had one or more residual abnormalities. The baseline full-scale developmental quotient was 22 (interquartile range: 13-30), while the follow-up full-scale developmental quotient score was 47.5 (interquartile range: 42.5-55). Seventy-nine (67.5%) had a follow-up developmental quotient of less than 50, implying moderate to severe developmental retardation. CONCLUSIONS:Despite therapy, children affected by the infantile B12 deficiency syndrome have significant lasting effects on the brain, evident as poor head growth, developmental deficits, and residual brain imaging changes.

Background:Central nervous system (CNS) invasive mould infection (IMI) is a rare but life-threatening condition. Limited large-scale studies hinder the understanding of its clinical characteristics and optimal management strategies. Methods:This was a cohort study. We reviewed confirmed patients of CNS IMI (January 2004-March 2025) by microbiological (direct microscopy and/or culture) and/or histopathological evidence at our tertiary care hospital. Clinical, demographic and mycological characteristics were analysed and compared. Findings:Among 1321 brain abscess/biopsy samples, 127 patients (9.6%) were of fungal origin (adults, 100; paediatrics, 27). The median age was 30 (IQR: 27) years, with male predominance (71.7%). Adults were significantly infected by melanized fungi (p = 0.003). Seventy-four percent of patients had no identifiable underlying immunocompromising condition. The median duration of symptoms was 15 days (IQR: 23 days), including headache (61.4%) and seizures (50.4%). Frequency of fever was significantly higher in infection by melanized fungi (p = 0.02). Frontal lobe involvement was common in paediatric age (OR 0.379, 95% CI 0.141-1.019; p = 0.05). Aspergillus spp. (56.3%) and Cladophialophora bantiana (21.36%) were the predominant pathogens. Deniquelata barringtoniae was reported as a human pathogen. Voriconazole (61.4%) and liposomal amphotericin B (28.3%) were the primary antifungals used. Surgical intervention was performed in all patients. Partial excision (66.7% vs 38.0%, OR 0.306, 95% CI 0.125-0.751; p = 0.01) and use of liposomal amphotericin B (55.6% vs 21%, OR 0.213, 95% CI 0.087-0.522 p = 0.001) were common in paediatric patients. The overall mortality was 30.7%, complete excision was significantly more frequent among survivors than non-survivors (67.0% vs 30.8%; OR 0.218, 95% CI 0.097-0.492; p = 0.001). Lack of headache (p = 0.044) and partial excision surgery (p = 0.001) were independently associated with poor outcome. Interpretation:We describe a compendium of CNS IMI in patients from India, highlighting distinct clinical patterns and treatment outcomes across age groups and fungal types. This warrants investigation of host and pathogen-related factors in the country. Funding:Funding included Department of Science and Technology-Science and Engineering Research Board (DST-SERB), New Delhi, India and Indian Council of Medical Research (ICMR), New Delhi, India.

BACKGROUND:Cerebral infarction is a frequent and serious complication of tuberculous meningitis (TBM), contributing substantially to morbidity and mortality. Moreover, studies on infarct patterns and associated factors/predictors remain limited in TBM. ACT-TBM trial (Aspirin or Clopidogrel Therapy in the Treatment of Tuberculous Meningitis) evaluated the efficacy and safety of adjunctive antiplatelet therapy (aspirin or clopidogrel) to standard antitubercular therapy in TBM for the occurrence of stroke or cerebral infarction. Here, we conducted a secondary analysis of the ACT-TBM trial to characterize the patterns, associated factors, and predictors of cerebral infarction in TBM. METHODS:We utilized data of 237 patients from the ACT-TBM randomized controlled trial conducted at 2 tertiary centers in India (2019-2023). Serial magnetic resonance imaging and magnetic resonance angiography were performed at baseline, 1 month, and 3 months in the primary trial. Cerebral infarctions were categorized by size, vascular territory, and number. Multivariable logistic regression models were performed using variables with P<0.1 on univariable analysis and clinical relevance. Model estimates are reported as adjusted odds ratios (aORs) with 95% CIs. RESULTS:Of the 237 patients enrolled, 226 were included after excluding 11 with missing imaging or incomplete follow-up data. Among these, 84 (37%) had cerebral infarction. Median age of the entire cohort was 26 years (interquartile range, 20-36), and 134 (59.29%) were females. Multiple infarcts were observed in 66 (78.6%) patients. Most frequent location of infarction was in the basal ganglia (n=61, 72.6%), subcortical white matter (n=44, 52.4%), and cortex (n=32, 38.1%). Arterial occlusion occurred in 49 (61.25%) patients with cerebral infarction versus 35 (25.55%) without (P<0.001). In multivariable adjusted models, Grade 3 TBM (aOR, 3.94 [95% CI, 1.19-13.08]; P=0.025), and arterial occlusion (aOR, 4.43 [95% CI, 2.19-8.96]; P<0.001) were associated with infarction. Among those with infarction, 27 (32.14%) patients (13.17% of the available cohort) developed new infarctions on follow-up. Modified antitubercular therapy (antitubercular therapy; aOR, 3.10 [95% CI, 1.18-8.09]; P=0.021) and arterial occlusion (aOR, 4.23 [95% CI, 1.40-12.75]; P=0.01) significantly predicted new infarctions. Presence of exudates was associated with arterial occlusion (aOR, 2.86 [95% CI, 1.08-7.56]; P=0.034). CONCLUSIONS:Cerebral infarction is common in TBM and associated with disease severity and arterial occlusion. Modified antitubercular therapy predicted new infarcts, while basal exudates were associated with vascular occlusion, highlighting the need for vigilant monitoring and optimized therapeutic strategies.

Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection. While children are commonly affected by MIS-C, reports have described MIS in neonates (MIS-N) following maternal coronavirus disease 2019 (COVID-19) infection. We describe a case of early infantile developmental and epileptic encephalopathy (EIDEE) secondary to MIS-N in a day 18 old neonate secondary to maternal COVID-19. A term-born male neonate with a history of maternal COVID-19 at 35 weeks of gestation presented on day 18 of life with seizures, encephalopathy, pneumonitis, transaminitis, and elevated inflammatory markers. Magnetic resonance imaging (MRI) brain showed extensive cortical laminar necrosis. He was managed for MIS-N with antiseizure medications, antibiotics, and intravenous immunoglobulin. COVID-19 reverse transcriptase-polymerase chain reaction was negative, and anti-COVID immunoglobulin G antibody was positive. Near continuous multifocal myoclonic seizures were associated with a suppression burst pattern in the EEG. Follow-up MRI showed cystic encephalomalacia and loss of periventricular white matter. The EIDEE remained drug refractory with poor neurological outcome in follow-up. Cytotoxin-mediated neuronal injury in MIS-N can lead to a catastrophic complication of EIDEE, resulting in drug-refractory epilepsy, microcephaly, and adverse neurological outcome.

Neuroglial heterotopia is a congenital developmental anomaly characterised by mature glial tissue located outside the cranial cavity or spinal canal, without intracranial communication. A 12-month-old girl presented with an enlarging left cervical mass and worsening respiratory symptoms. MRI demonstrated a trans-spatial, multiseptated cystic lesion in the left parotid and submandibular spaces, extending medially into the parapharyngeal space with upper airway compression. No intracranial communication was identified. The postoperative specimen revealed mature glial tissue interspersed within fibroconnective stroma, confirming neuroglial heterotopia. Contribution: This case highlights the importance of considering neuroglial heterotopia in the differential diagnosis for congenital or progressive cystic neck masses in infants. Although MRI plays a central role in defining the lesion extent, a definitive diagnosis requires histopathological confirmation.

Introduction and objective Pediatric traumatic brain injury (TBI) is the leading cause of trauma-related mortality and disability in children, with patterns of injury and outcomes differing significantly from adults. We analysed epidemiological factors, management, and outcomes of pediatric TBI at a tertiary trauma centre in North India. Materials and methods This prospective observational study (June 2022 to May 2023) included children ≤12 years presenting with head injury. Demographic data, injury mechanism, clinical and radiological findings, management, and outcomes were recorded. Statistical analysis was performed using SPSS v22, with p < 0.05 considered significant. Results A total of 244 children with head injury were included (mean age 5.04 years; M:F = 1.39:1). Falls were the predominant mechanism (75.8%), followed by road traffic accidents (19.7%). Most children (83.7%) reached the hospital within 24 h of injury (mean time 17.06 ± 27.66 h). Vomiting (61.9%) and loss of consciousness (LOC) (46.3%) were most common presenting symptoms. Injuries were mild in 71.7% and severe in 15.6%. Isolated head injury was seen in 87.3%; associated injuries occurred in 12.7%, most commonly extremity fractures (8.6%). NCCT findings included scalp hematoma (64.8%), linear skull fracture (40.6%), hemorrhagic contusion (29.1%), and normal scans in 12.7%. Non-operative management was employed in 87.7%; 22.1% required mechanical ventilation and 17.6% required intensive care. Overall mortality was 6.14%. At discharge, 84.8% had good recovery and 9.4% disability, which improved to 7.8% at 3 months. Mean hospital stay was 5.56 days. On multivariable logistic regression, severe TBI and prolonged loss of consciousness (>5 min) were independently associated with poor outcome at discharge. Conclusion Pediatric TBI in this cohort was associated with a high rate of favorable outcomes, particularly among children with mild injuries. Injury severity and early neurological impairment remain the strongest predictors of outcome. Given the predominance of fall-related injuries occurring in domestic settings, targeted injury-prevention strategies and improved child safety measures have the potential to substantially reduce the burden of pediatric TBI.

Background and Objective Enteroviral infections range from self-limiting illnesses to severe neurological disorders. A thorough review of published literature reveals few studies highlighting the neuroimaging findings of such cases; however, none have been published from the Indian subcontinent. The present study analyzes the varied imaging and clinical spectrum of microbiologically proven cases of encephalomyelitis due to enterovirus in a tertiary care institute in northern India. Methods and Materials This prospective study was conducted at a tertiary care institute in north India, and included 23 cases that presented with variable neurological symptoms of central nervous system infection and were found to have enterovirus, confirmed using reverse transcriptase-polymerase chain reaction. All these patients had undergone a brain magnetic resonance imaging (MRI). MRI spine was done depending on the symptoms of the patients. Imaging analysis was done by two experienced neuroradiologists. Results Fever was the most common presenting symptom, followed by altered sensorium and seizures. In neuroimaging, we found ganglio-capsular (13 cases, 56%), brain stem (7, 30%), cerebral hemisphere (6, 26%), and spinal cord (3, 13.04%) involvement. Conclusion Basal ganglia and brainstem involvement was a common pattern seen in our cases, unlike the previously reported pattern of predominant posterior fossa structure involvement. As the pattern and site of both the spinal cord and the brain differ from previously published literature, further analysis would be needed to confirm the cause of such findings.

Purpose Synthetic MRI has potential to significantly reduce MR scan time by reconstructing multiple contrast images from a single acquisition. The aim of this study was to compare the image quality of both pre- and post-contrast synthetic MRI in subjects with ring-enhancing brain lesions with conventional images. Methods 50 patients with radiologically confirmed ring-enhancing brain lesions underwent TSE_MDME sequence before and after gadolinium administration along with conventional MRI sequences. Image quality was compared between synthetic and conventional sequences on a 4-point scale across 5 parameters, that is, grey white matter differentiation, demarcation of caudate nucleus, lentiform nucleus, demarcation of sulci, and SNR. Also, the artefacts, lesion conspicuity, and ability to diagnose on synthetic images were studied. Results Image quality of synthetic MRI was relatively similar across all sequences except for FLAIR. The image quality comparison between synthetic and conventional images showed an agreement in 70.7% of the cases (Weighted Kappa = 0.043, p = <0.001). Artefacts were maximum in synthetic FLAIR sequence (52%). 50% cases showed a discordant enhancement pattern in post contrast synthetic images. Despite a higher occurrence of artefacts in synthetic post contrast images, diagnostic ability was comparable across pre- and post-contrast synthetic and conventional images. Conclusion Synthetic MRI provides comparable diagnostic quality of images with acceptable rate of artefacts in both pre and post contrast sequences. However, needs a careful interpretation especially when diagnosis is heavily relied on the enhancement pattern of lesions.

BACKGROUND:This study was undertaken to validate the 2023 myelin oligodendrocyte glycoprotein (MOG) antibody (Ab)-associated disease (MOGAD) diagnostic criteria among children with acquired demyelinating syndromes. METHODS:In this multicentric retrospective study, all children aged <18 years, diagnosed or followed up by pediatric neurologists for acquired demyelination between January 1, 2017, and December 31, 2022, were included if they had undergone at least one MOG-Ab testing. The 2023 MOGAD diagnostic criteria were applied retrospectively. The pediatric neurologist's clinical diagnosis of MOGAD served as the gold standard to assess the criteria's performance using sensitivity, specificity, PPV, and NPV. RESULTS:A total of 388 children were subjected to the 2023 MOGAD criteria. A clinical diagnosis of MOGAD was made in 190 children (true-positives), having a median (IQR) age of 7 (4.7-10) years and a median (IQR) follow-up of 48 (41-56) months; 196 children were true-negatives, not fulfilling 2023 criteria or diagnosed as MOGAD. Two children were false-positives, fulfilling criteria but diagnosed as multiple sclerosis. The 2023 MOGAD diagnostic criteria demonstrated a sensitivity of 100% (95% CI = 98.02%, 100%), specificity of 98.99% (95% CI = 96.39%, 99.82%), PPV of 98.96% (95% CI = 96.28%, 99.81%), NPV of 100% (95% CI = 98.08%, 100%), and diagnostic accuracy of 99.48% (95% CI = 98.15%, 99.94%). MOGAD criteria performed similar to MOG-Ab alone, as all MOGAD diagnoses were confined to seropositive patients. CONCLUSION:The study demonstrates excellent performance of the 2023 MOGAD diagnostic criteria among children with acquired demyelination; however, the criteria did not enhance the diagnostic accuracy of antibody testing alone.

Congenital muscular dystrophies are inherited disorders defined by early-onset muscle weakness, motor delay, and dystrophic muscle pathology. This study aimed to report the clinical and genetic landscape of children with congenital muscular dystrophies from North India. Cognitive and motor outcomes and quality of life were evaluated during follow-up. In a cross-sectional study, 42 children aged <18 years with clinical and genetic diagnosis of congenital muscular dystrophy were enrolled. The most common congenital muscular dystrophy subtype was COL6-related dystrophy (RD) (32%), followed by LAMA2-RD (26%), LMNA-RD (19%), α-dystroglycanopathy (α-DG; 9%), and CHKB-RD (5%). Motor and cognitive outcomes were was assessed in 33 (78%) children during follow-up, 45% (n = 19) were able to ambulate independently. Median value of the Motor Function Measure (MFM) score was 60 (interquartile range [IQR] 33-74), Brooke was 2 (IQR 1-4), and Vigno score was 6 (IQR 3-9). The median Medical Research Council sum score was 40 (IQR 29-47) and Vineland Social Maturity Scale (VSMS) score was 83.5 (IQR 64-86). The motor outcome and quality of life were worst affected in children with α-DG and LAMA2-RD. Hence, in a cohort of children with congenital muscular dystrophy from North India, COL6-RD and LAMA2-RD were the most common congenital muscular dystrophy subtypes. Motor impairment in children with congenital muscular dystrophy is profound, the majority being nonambulant and the children with α-DG most severely affected.

BACKGROUND AND OBJECTIVE:Infantile Vitamin B12 deficiency commonly called Infantile tremor syndrome (ITS) is a neurocutaneous disorder primarily affecting exclusively breastfed infants of vegetarian mothers. Few reports of structural neuroimaging in this condition highlight cerebral and corpus callosal atrophy, while microstructural brain changes remain underexplored. This study investigates brain microstructural changes in Infantile Vitamin B12 deficiency using diffusion tensor imaging (DTI) and their correlation with neurodevelopmental outcomes following B12 supplementation. METHODS:Thirty children with Infantile vitamin B12 deficiency underwent clinical, neurodevelopmental, and DTI assessments at baseline and post-B12 treatment (3 months or later). MRI scans were analysed for fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD) using both region-of-interest (ROI) and voxel-based approaches. Correlations between DTI metrics and developmental scores were evaluated. RESULTS:Vitamin B12 supplementation significantly improved serum B12, hemoglobin, neurodevelopmental scores and normalized homocysteine levels. DTI revealed increased FA and reduced MD, RD, and AD, indicating remyelination and axonal recovery. Corpus callosum, corona radiata, and internal capsule showed maximal improvement, aligning with recovery remyelination. Grey matter areas, including the thalamus and pre-central gyrus, also demonstrated recovery. Developmental scores positively correlated with DTI metrics, particularly in regions associated with language and motor function. CONCLUSION:Infantile vitamin B12 deficiency is characterized by global brain microstructural abnormalities that improve significantly with B12 therapy. DTI metrics correlate with neurodevelopmental recovery, underscoring the role of B12 in brain myelination.

Background We aimed to analyze the prevalence, clinico-radiological and genetic features, and outcomes in children with Alexander disease (AD) with special emphasis on atypical presentations. Methods This cross-sectional study evaluated children with AD seen over the past 10 years. Neuroimaging was evaluated by a trained neuroradiologist. In-silico tools were used to predict the pathogenicity of the novel variants detected by whole-exome sequencing. Results N = 12 children (males 58.3 %) with genetically-confirmed AD were evaluated. Disease subtypes were infantile (n = 7, 58.3 %), juvenile (n = 3, 25 %), and neonatal (n = 2, 16.7 %) AD. The clinic-based prevalence of AD was 0.34 cases per 1000 pediatric neurology patients per year, or an average of 1.2 cases per year. Clinical features were developmental delay (n = 9, 75 %), macrocephaly (n = 9, 75 %), spasticity (n = 6, 50 %), and epilepsy (n = 8, 66.7 %); two children with juvenile-onset disease had atypical visual and bulbar manifestations. Pathogenic variations were most common in exons 1 (n = 5, 42 %), and exon 4 (n = 4, 33.3 %). These were missense type (n = 11, 91.6 %) or deletion (n = 1, 8.3 %). Three novel variants were detected: c.251T>G (p.Ile84Ser) in exon 1, c.810_818 deletion (p.Asn271_Glu273del) in exon 5, and c.292G>C (p.Ala98Pro) in exon 1 in the GFAP gene (NM_002055). Majority of children developed spastic paresis (n = 9, 83 %) and mortality rate was 33.3 % (n = 4/12). Conclusion AD is a rare leukodystrophy with high mortality and progressive spastic paraparesis. Neonatal and juvenile types may present atypically and delay correct diagnosis. Deletions may account for a minor proportion of pathogenic variants. Our study expands the clinico-radiological spectrum of AD in children.