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OBJECTIVE The objective of this study was to assess the prevalence and spectrum of spinal dysraphism in a cohort of children with cloacal exstrophy (CEX) using MRI. METHODS Children with CEX presenting between 1999 and 2019 with baseline spinal MRI were included. The images were reviewed in consensus to assess the type of dysraphism. The dysraphisms were initially reviewed and described based on their descriptive anatomy, and then classified according to anomalies of gastrulation, primary neurulation, or secondary neurulation. RESULTS Thirty-four children were included. Thirty-three of these children had closed spinal dysraphism, and 1 had a normal spine. Of the 33 cases of closed spinal dysraphism, the conus and/or filum terminale were involved in all cases. The most common malformations were spinal lipoma (n = 20) and terminal myelocystocele (n = 11). The lipomas were heterogeneous: 4 dorsal, 9 transitional, 4 chaotic, and 3 terminal. A large subgroup (10/20, 50%) within the lipomas had an unusual morphology of noncontiguous double lipomas, the proximal fat related to the conus and the distal fat within the filum. These were difficult to characterize using existing classifications. In 2 cases, only a thickened filum was noted. The majority of these malformations were compatible with a disorder of secondary neurulation. CONCLUSIONS Complex spinal dysraphisms are consistently associated with CEX. The unusual dysraphism patterns found in this group of patients highlight the limitations of current embryological classifications. Given the propensity for neurological deterioration in this group of patients, spinal MRI should be routinely performed. The type and distribution of malformations seen have implications for the wider understanding of the pathogenesis and classification of lumbosacral lipomas.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybutyric acid and the identification of biallelic pathogenic variants in aldehyde dehydrogenase 5 family, member A 1 (ALDH5A1) gene. Here, we describe a 15-month-old girl with SSADH deficiency presenting with developmental delay, language deficits, and acute-onset right hemiparesis, following recovery from a diarrheal illness. Brain magnetic resonance imaging revealed hyperintense signal changes involving the left globus pallidus in T2-weighted images with restriction of diffusion in the diffusion-weighted images. Increased excretion of 4-hydroxybutyric acid, threo-4,5-dihydroxyhexanoic acid lactone and erythro-4,5-dihydroxyhexanoic acid lactone was detected by urine organic acid analysis and a diagnosis of SSADH deficiency was confirmed by the identification of homozygous pathogenic variant in ALDH5A1. Stroke mimic is a novel presentation in our patient with SSADH deficiency. She was initiated on treatment with vigabatrin and has shown developmental gains with the recovery of right hemiparesis. Follow-up neuroimaging shows near complete resolution of signal changes in the left globus pallidus, while there was subtle hyperintensity in the right globus pallidus. The phenotypic spectrum of SSADH deficiency is widely expanding, and this disorder should be considered in the differential diagnosis of children with metabolic stroke.

Objective We studied the accuracy of the radiologic diagnosis of lateral ventricular masses in children ( Methods In this retrospective study, data were collected from children with lateral ventricular masses managed in our unit between 2001 and 2016. There were 43 patients (26 boys and 17 girls; mean age, 12.1 years; range, 8 months to 20 years). Magnetic resonance imaging was available for 36 patients, whereas in 7 patients only a contrast-enhanced computed tomography scan was available. The images were read independently by 3 radiologists, who were blinded to the pathology. Two differential diagnoses were offered for each patient. The agreement between the 3 radiologists was calculated using the Fleiss κ statistic. Results The common pathologic diagnoses were subependymal giant cell astrocytoma (SEGA) (20.9%), low-grade astrocytoma (16.3%), high-grade astrocytoma (9.3%), choroid plexus papilloma (9.3%), and meningioma (9.3%). The sensitivity, specificity, and accuracy of the radiologic diagnoses were 62%, 96.7%, and 94.2%, respectively. Low-grade tumors such as low-grade gliomas, SEGAs, choroid plexus papillomas, and meningiomas were diagnosed with a high level of accuracy. High-grade gliomas, choroid plexus carcinomas, and other malignant neoplasms were difficult to diagnose on imaging. Cavernous angiomas were also difficult to diagnose. There was only fair agreement between the 3 radiologists (Fleiss κ = 0.24). Conclusions The pathologic spectrum of lateral ventricular tumors in children is wide, and identifying the pathology on imaging is difficult for malignant tumors. Benign tumors such as SEGAs, low-grade astrocytomas, and choroid plexus papillomas are relatively easier to diagnose. There is significant interobserver variability in the radiologic diagnosis of these tumors.

Summary Background The CNS manifestations of COVID-19 in children have primarily been described in case reports, which limit the ability to appreciate the full spectrum of the disease in paediatric patients. We aimed to identify enough cases that could be evaluated in aggregate to better understand the neuroimaging manifestations of COVID-19 in the paediatric population. Methods An international call for cases of children with encephalopathy related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and abnormal neuroimaging findings was made. Clinical history and associated plasma and cerebrospinal fluid data were requested. These data were reviewed by a central neuroradiology panel, a child neurologist, and a paediatric infectious diseases expert. The children were categorised on the basis of their time of probable exposure to SARS-CoV-2. In addition, cases were excluded when a direct link to SARS-CoV-2 infection could not be established or an established alternate diagnostic cause could be hypothesised. The accepted referral centre imaging data, from ten countries, were remotely reviewed by a central panel of five paediatric neuroradiologists and a consensus opinion obtained on the imaging findings. Findings 38 children with neurological disease related to SARS-CoV-2 infection were identified from France (n=13), the UK (n=8), the USA (n=5), Brazil (n=4), Argentina (n=4), India (n=2), Peru (n=1), and Saudi Arabia (n=1). Recurring patterns of disease were identified, with neuroimaging abnormalities ranging from mild to severe. The most common imaging patterns were postinfectious immune-mediated acute disseminated encephalomyelitis-like changes of the brain (16 patients), myelitis (eight patients), and neural enhancement (13 patients). Cranial nerve enhancement could occur in the absence of corresponding neurological symptoms. Splenial lesions (seven patients) and myositis (four patients) were predominantly observed in children with multisystem inflammatory syndrome. Cerebrovascular complications in children were less common than in adults. Significant pre-existing conditions were absent and most children had favourable outcomes. However, fatal atypical CNS co-infections developed in four previously healthy children infected with SARS-CoV-2. Interpretation Acute-phase and delayed-phase SARS-CoV-2-related CNS abnormalities are seen in children. Recurring patterns of disease and atypical neuroimaging manifestations can be found and should be recognised being as potentially due to SARS-CoV-2 infection as an underlying aetiological factor. Studies of paediatric specific cohorts are needed to better understand the effects of SARS-CoV-2 infection on the CNS at presentation and on long-term follow-up in children. Funding American Society of Pediatric Neuroradiology, University of Manchester (Manchester, UK). Video Abstract Neuroimaging manifestations in children with SARS-CoV-2 infection

Spontaneous intracranial hypotension (SIH) is an under-diagnosed cause of headache in children and adolescents. SIH results from cerebrospinal fluid (CSF) leak due to breach in the dura mater and the etiology for dural breach is often diverse. We report an adolescent boy who presented with chronic episodic headache that later progressed to daily headache. There was a typical history of worsening of headache on upright position and relief of headache on lying down. He was treated with migraine prophylaxis in another hospital but there was no response. Marfanoid features and brisk deep tendon reflexes were observed on clinical examination. Brain magnetic resonance imaging (MRI) revealed sagging of the brain stem, pachymeningeal enhancement, and tonsillar herniation. MRI of spine myelogram confirmed multiple levels of CSF leak. He was initially managed with supportive measures and fluoroscopic-guided fibrin glue injection. Although child remained symptom-free for the next 6 months, he again developed headache. MRI and computed tomography spine myelogram revealed a meningeal diverticulum in the lumbar spine. He was managed with an autologous epidural blood patch and he has been well since then. In this report, we highlight the clinical and radiological pointers to the presence of SIH in children with recurrent headache.

BackgroundCerebellar mutism syndrome (CMS) is a common complication following resection of posterior fossa tumors, most commonly after surgery for medulloblastoma. Medulloblastoma subgroups have historically been treated as a single entity when assessing CMS risk; however, recent studies highlighting their clinical heterogeneity suggest the need for subgroup-specific analysis. Here, we examine a large international multicenter cohort of molecularly characterized medulloblastoma patients to assess predictors of CMS.MethodsWe assembled a cohort of 370 molecularly characterized medulloblastoma subjects with available neuroimaging from 5 sites globally, including Great Ormond Street Hospital, Christian Medical College and Hospital, the Hospital for Sick Children, King Hussein Cancer Center, and Lucile Packard Children’s Hospital. Age at diagnosis, sex, tumor volume, and CMS development were assessed in addition to molecular subgroup.ResultsOverall, 23.8% of patients developed CMS. CMS patients were younger (mean difference −2.05 years ± 0.50, P = 0.0218) and had larger tumors (mean difference 10.25 cm3 ± 4.60, P = 0.0010) that were more often midline (odds ratio [OR] = 5.72, P < 0.0001). In a multivariable analysis adjusting for age, sex, midline location, and tumor volume, Wingless (adjusted OR = 4.91, P = 0.0063), Group 3 (adjusted OR = 5.56, P = 0.0022), and Group 4 (adjusted OR = 8.57 P = 9.1 × 10−5) tumors were found to be independently associated with higher risk of CMS compared with sonic hedgehog tumors.ConclusionsMedulloblastoma subgroup is a very strong predictor of CMS development, independent of tumor volume and midline location. These findings have significant implications for management of both the tumor and CMS.

Background: Opsoclonus myoclonus syndrome (OMS) is a neuroinflammatory disorder. Indian literature on its clinical profile and outcome is sparse. Objectives: The objective of this study is to describe the clinical profile and analyze outcomes and prognostic predictors in a cohort of children with OMS. Materials and Methods: This was a retrospective study of children with OMS between 2007 and 2017. Results: Twenty-two children were included in the study. The mean age at onset of symptom was 20.9 months (standard deviation [SD]: 7.5). The mean duration of delay in diagnosis was 8.4 months (SD 1.26) with acute cerebellitis being the most common misdiagnosis. Eleven children (50%) were diagnosed with tumor during evaluation and follow-up and 11 children (50%) belonged to idiopathic/postinfectious group. Magnetic resonance imaging brain was normal in all children except for one revealing cerebellar atrophy on follow-up. One child in the paraneoplastic group (neuroblastoma) had a positive PNMA2/Ta onconeural antibody. Children in the tumor group had an earlier age of onset (mean 15.5 vs. 26.3 months), shorter time to onset of opsoclonus from initial symptom (2.54 vs. 7.27 weeks), and higher severity score at presentation (13.7 vs. 11.3) compared to the nontumor group. Children in the nontumor group attained their first remission with treatment earlier (10.9 weeks, SD: 4.5) than the children with tumor (18.72 weeks, SD: 5.8). There was no significant difference in the outcome between the groups. Children with multiple relapses (>3) and late surgical intervention for tumor (>6 months after symptom onset) had a poor outcome. Discussion: A high index of suspicion coupled with early diagnosis and periodic tumor surveillance (even in the initially negative cases) along with aggressive combined multimechanistic immunotherapies is the key in improving outcomes. Conclusion: A high index of suspicion in appropriate clinical circumstances and early aggressive immunomodulation might lead to a better outcome.

Context: Krabbe disease shows considerable heterogeneity in clinical features and disease progression. Imaging phenotypes are equally heterogeneous but show distinct age-based patterns. It is important for radiologists to be familiar with the imaging spectrum to substantially contribute toward early diagnosis, prognostication, and therapeutic decisions. Aims: The study aims to describe different magnetic resonance imaging (MRI) patterns observed in a cohort of children with Krabbe disease and to assess correlation with age-based clinical phenotypes. Materials and Methods: This is a retrospective descriptive study done at the Departments of Radiodiagnosis and Neurological Sciences of our institution, a tertiary care hospital in Southern India. Imaging features of children diagnosed with Krabbe disease over a 10-year period (2009–2018) were collected and analyzed. Results: A total of 38 MRI brain studies from 27 patients were analyzed. Four distinct MRI patterns were recognizable among the different clinical subtypes. All patients from the early and late infantile group showed deep cerebral and cerebellar white matter and dentate hilum involvement. Optic nerve thickening was, however, more common in the former group. Adult-onset subtype showed isolated involvement of corticospinal tract, posterior periventricular white matter, and callosal splenium with the absence of other supra- and infra-tentorial findings. Juvenile subgroup showed heterogeneous mixed pattern with 78% showing adult subtype pattern and 22% showing patchy involvement of deep cerebral white matter with dentate hilum signal changes. Conclusion: Krabbe disease shows distinct imaging features which correspond to different clinical age-based subtypes. This article reemphasizes these distinct imaging phenotypes, highlights a novel imaging appearance in juvenile Krabbe, and also alludes to the rare variant of saposin deficiency. Awareness of these patterns is essential in suggesting the appropriate diagnosis and guiding conclusive diagnostic workup. Large multicenter longitudinal studies are needed to further define the role of imaging in predicting the clinical course and thus to guide therapeutic options.

Neurodegeneration with brain iron accumulation (NBIA) refers to an inherited heterogeneous group of disorders pathologically characterized by focal brain iron deposition. Clinical phenotype, imaging findings and genotype are variable among the different types of this disorder. In this case report, we describe the imaging finding of an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN), a subentity of NBIA. Magnetic resonance imaging of brain revealed hypointensity of globi pallidi with medial medullary lamina appearing as a hyperintense streak in T2 weighted images. Mild cerebellar atrophy in T2 weighted images and blooming of substantia nigra and globi pallidi in susceptibility weighted images were also observed. Imaging findings in patients with MPAN mimics the eye of tiger appearance in patients with pantothenate kinase associated neurodegeneration. Classical phenotype and eye of tiger sign mimic in imaging of patients with NBIA should raise the suspect for MPAN. Genetic studies helps in the confirmation of diagnosis of this neurodegenerative disorder.

Imaging plays an important role in diagnosis, management, prognostication and follow up of pediatric demyelinating and inflammatory diseases of brain and forms an integral part of the diagnostic criteria. This article reviews the spectrum of aquaporinopathies with an in-depth discussion on present criteria and differentiation from other demyelinating diseases with clinical vignettes for illustration; the latter part of article deals with the spectrum of CNS vasculitis.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein. This is the first genetically proven case from India. BPAN is an underrecognized disorder and must be considered as a differential diagnosis in children with atypical Rett features and should be enlisted among the causes for autistic regression and intracranial calcification. Pediatricians must be aware of this rare entity for establishing early diagnosis, prognostication, and genetic counseling. Treatment is usually supportive. More research is needed to explore drugs in the management of BPAN that can facilitate the autophagy and promotes cytoprotection.

Lymphomatoid granulomatosis is a rare systemic angiocentric/angiodestructive, B cell lymphoproliferative disorder. Central nervous system involvement occurs as part of systemic disease. Isolated central nervous system disease is rare with only few case reports. A 53-year-old male presented with progressive cognitive decline, extrapyramidal features, and altered sensorium with seizures over the last 4 years. His magnetic resonance imaging (MRI) of brain showed multiple small enhancing nodules in subependymal/ependymal regions and along the vessels. Brain biopsy showed atypical lymphohistiocytic infiltrate suggestive of lymphomatoid granulomatosis. There was no evidence of systemic disease; thus, isolated central nervous system lymphomatoid granulomatosis was diagnosed.

A 14-year-old girl presented with features of raised intracranial pressure. MRI brain revealed a large, well defined, T2 hyperintense, cystic lesion in the right frontoparietal region with an imperceptible wall and a small anterior daughter cyst (Fig. 1). There was no significant perilesional oedema or abnormal enhancement. No similar thoracic or abdominal involvement was noted. MR spectroscopy (TE 144 ms) showed a large peak at 2.4 ppm (pyruvate/succinate). Smaller peaks of alanine (doublet 1.48 ppm), lactate (inverted, 1.3 ppm), and myoinositol (3.5 ppm) were also seen. NAA peak was reduced, choline peak was mildly elevated (Fig. 2). Conventional and spectroscopic findings were consistent with hydatid cyst. She underwent right parietal craniotomy with total cyst excision. Intraoperatively the cyst showed a fragile wall and daughter cysts. Histopathology confirmed the pre and intraoperative diagnosis of hydatid cyst with secondary granulomatous inflammation. Hydatid disease is a zoonotic disease caused by the larval stage of echinococcus, more commonly by E. granulosus and rarely by E. multilocularis [1]. The central nervous system is affected in 1–2 % of cases, more commonly in children [1]. They usually present with a single cyst in the middle cerebral artery territory. Multiple daughter cysts can be seen within the large cyst. MR spectroscopy helps in the noninvasive diagnosis of the hydatid cyst. The 2.4 ppm peak has been described as a very specific marker for intracranial cestodal infection. Although Jaykumar et al. attributed this 2.4 ppm peak to pyruvate, other authors believe it is a succinate peak [2, 3]. Peaks at 2.4 ppm have been found as a noninvasive marker of cestodal cysts [2]. Alanine and acetate peaks have also been reported [2]. Creatine is usually absent, unlike cysticercal cysts [4].

A seven-year-old girl with Down syndrome was incidentally found to have abnormal chest radiograph finding. She had no history of fever, dyspnea, hemoptysis, or features of upper airway obstruction. There was no significant family history or contact with tuberculosis. Oxygen saturation in room air was 97%. Normal vesicular breath sounds were heard bilaterally on examination of the chest. Her chest radiograph [Figure 1] and computed tomography [Figure 2 and 3] of the chest are given. Figure 1 Chest radiograph of a seven-year-old girl, anteroposterior view. Figure 2 Axial computed tomography images of the chest at the level of (a) upper lobes and (b) lower lobes. Figure 3 (a) Coronal and (b) sagittal computed tomography images of chest.

Background: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy. This series also includes a female with X-13 translocation manifesting neurological symptoms. Methods: The clinical profile, laboratory and radiological data, and follow-up of four children with MD were collected from the hospital database and are being presented. Results: All the four children in our series had developmental delay, recurrent respiratory tract infections, hair and skeletal changes, axial hypotonia, tortuous vessels on imaging, low serum copper, ceruloplasmin, and elevated lactate. Fetal hypokinesia and fetal growth retardation were present in two cases. Failure to thrive was present in three children and only one child had epilepsy. Subcutaneous copper histidine was administered to all children. The average time lapse in the initiation of treatment was 20.3 months, and average duration of follow-up was 14.3 months. Conclusion: We conclude that copper histidine therapy is beneficial in reversing the skin and hair changes, improving appendicular tone, socio-cognitive milestones, and improving weight gain, and immunity. Early diagnosis and management of MD are essential to have a better clinical outcome. More research is needed to explore and devise new strategies in the management of patients with MD.

Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H) syndrome is a rare hypomyelination disorder with around 40 cases reported worldwide. Children with hypomyelination, hypodontia, hypogonadotropic hypogonadism syndrome present with varying degrees of developmental delay with a spastic ataxic syndrome with delayed eruption of teeth along with disruption in the eruption sequence, hypogonadotropic hypogonadism, and a fluctuating clinical course with intercurrent infections and varying periods of stability. The disorder is caused by mutations in POL3A and POL3B genes and is collectively termed as pol III–related leukodystrophies. Here we describe 2 children with hypomyelination, hypodontia, hypogonadotropic, hypogonadism syndrome and the association of multiple vertebral fusion anomalies in one of them, which has not been previously described in the literature. We conclude that the spectrum of the disorder is not limited to brain parenchyma alone and involves all the structures arising from neural ectoderm, and this needs further research.

Acute necrotising encephalopathy of childhood (ANEC) is a fulminant disorder with rapid progressive encephalopathy, seizures and poor outcome. It has been reported in association with various viral infections. We describe the clinicoradiological findings and short-term follow-up in a child with H1N1 influenza-associated ANEC. Laminar, target or tricolour pattern of involvement of the thalami was seen on apparent diffusion coefficient images. Our patient had significant morbidity at discharge despite early diagnosis and management with oseltamivir and immunoglobulin. Repeat imaging after 3 months had shown significant resolution of thalamic swelling, but there was persistence of cytotoxic oedema involving bilateral thalami. She was pulsed with intravenous steroids and maintained on a tapering schedule of oral steroids. This report emphasises the need for a high index of suspicion to establish early diagnosis, promotion of widespread immunisation strategies to prevent influenza outbreak, and more research to establish standard treatment protocols for this under-recognised entity.

Japanese encephalitis (JE) is a mosquito borne encephalitis caused by Flavivirus. Neurocysticercosis (NCC) is a parasitic disease of the central nervous system caused by Taenia solium. In this report, we describe the clinical profile, imaging findings, and outcome of two children with JE and coexisting NCC. Eleven and thirteen-year-old boys from the same town of Jharkhand state were brought with history of fever, seizures, altered sensorium, and extrapyramidal symptoms. Dystonia, hypomimia, bradykinesia, and dyskinesia were observed. Meige syndrome observed in one of the children is a novel finding. Magnetic resonance imaging of the brain revealed findings suggestive of JE with cysticercal granulomas. There are few reports of coexistence of JE and NCC in children. Both children were treated with ribavirin, and follow-up imaging had shown significant resolution of signal changes. Both the children had shown marked clinical improvement. Ribavirin was found to beneficial in reducing the morbidity in our patients.

Compression of celiac artery by median arcuate ligament (MAL) may cause abdominal symptoms. This study looked at the prevalence of this finding in asymptomatic persons. Abdominal angiograms of 155 healthy asymptomatic voluntary kidney donors aged 18–65 years, done as part of the standard pretransplant work up, were reviewed retrospectively. Celiac axis compression, defined as greater than 50% luminal narrowing of the celiac artery by the MAL was found in eight (5.1%) of 155 angiograms. The high frequency of this finding re-emphasizes the need for caution in attributing abdominal symptoms to such compression based on imaging findings alone.