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Mucormycosis infection of the maxillofacial region and brain has been associated with coronavirus disease 2019 (COVID-19) infection. Mucormycosis was relatively a rare infection before COVID-19, and imaging findings are not very well described.A retrospective imaging study of 101 patients diagnosed with COVID-19-associated mucormycosis by histopathology and/or culture was performed. All patients underwent computed tomography and/or magnetic resonance imaging based on the clinical condition of the patient and on consensus decision by the team of treating physicians. A simple 3-stage classification system based on imaging findings was adopted.One hundred one cases were included in the final analysis (mean age = 55.1 years; male/female ratio = 67:34). The affected patients had diabetes in 94% of the instances (n = 95), 80.1% (n = 81) received steroids), whereas 59.4% (n = 60) patients received supplemental oxygen. The majority underwent surgical intervention, whereas in 6 cases, patients were treated with antibiotic regimens. Sixty subjects improved following therapy, whereas 18 eventually succumbed to the illness. We noted a significant positive correlation between the imaging stage and outcomes. No association was seen between other clinical parameters and final clinical outcomes. Salient imaging findings include lack of normal sinonasal mucosal enhancement, perisinus inflammation, ischemic optic neuropathy, perineural spread, pachymeningeal enhancement, and presence of strokes.We describe the imaging findings in the largest cohort of patients with rhino-orbito-cerebral mucormycosis in the context of the current COVID-19 pandemic. A simplified staging system described here is helpful for standardized reporting and carries prognostic information.

Our current understanding of focal epilepsy is evolving as increasing evidence suggests that tissue abnormalities may extend beyond the focus. In adults, widespread structural changes remote from the putative epileptic focus have been demonstrated with MRI, predominantly using morphological markers. However, the underlying pathophysiology of these changes is unclear, and it is not known whether these result from ongoing disease processes or treatment-related side-effects, or whether they emerge earlier. Few studies have focused on children, who typically have shorter disease duration. Fewer still have utilised quantitative MRI, which may provide a more sensitive and interpretable measure of tissue microstructural changes.In this study, we aimed to determine if there were common spatial modes of changes in cortical architecture in children with drug-resistant focal epilepsy, and secondarily if changes were related to disease severity. To assess cortical microstructure, quantitative T1 and T2 relaxometry (qT1 and qT2) was measured in 89 children - 43 with drug-resistant focal epilepsy [age-range=4-18 years] and 46 healthy controls [age-range=2-18 years]. We assessed depth-dependent qT1 and qT2 values across the cortex, as well as their gradient of change across cortical depths. As a post-hoc analysis, we determined whether global changes seen in group analyses were driven by focal pathologies in individual patients. Finally, we trained a classifier using qT1 and qT2 gradient maps from patients with radiologically-defined abnormalities (MRI-positive) and healthy controls, and tested if this could classify patients without reported radiological abnormalities (MRI-negative).We detected depth-dependent qT1 and qT2 increases in widespread cortical areas, likely representing loss of structure such as altered cortical stratification, gliosis, myelin and iron alterations, oedema-associated increases in free-water, or a combination of these. Changes did not correlate with disease severity measures, suggesting they may appear during cerebral development and represent antecedent neurobiological alterations. Using a classifier trained with MRI-positive patients and controls, sensitivity was 62% at 100% specificity on held-out MRI-negative patients and controls.Our findings suggest the presence of a potential imaging endophenotype of focal epilepsy, detectable irrespective of radiologically-identified abnormalities, and possibly evident at a pre-symptomatic disease stage.

There is a lack of imaging markers revealing the functional characteristics of different brain regions in paediatric dystonia. In this observational study, we assessed the utility of [18F]2-fluoro-2-deoxy-D-glucose (FDG)-PET in understanding dystonia pathophysiology by revealing specific resting awake brain glucose metabolism patterns in different childhood dystonia subgroups. PET scans from 267 children with dystonia being evaluated for possible deep brain stimulation surgery between September 2007 and February 2018 at Evelina London Children’s Hospital (ELCH), UK, were examined. Scans without gross anatomical abnormality (e.g. large cysts, significant ventriculomegaly; n = 240) were analysed with Statistical Parametric Mapping (SPM12). Glucose metabolism patterns were examined in the 144/240 (60%) cases with the 10 commonest childhood-onset dystonias, focusing on nine anatomical regions. A group of 39 adult controls was used for comparisons. The genetic dystonias were associated with the following genes: TOR1A, THAP1, SGCE, KMT2B, HPRT1 (Lesch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria type 1). The acquired cerebral palsy (CP) cases were divided into those related to prematurity (CP-Preterm), neonatal jaundice/kernicterus (CP-Kernicterus) and hypoxic-ischaemic encephalopathy (CP-Term). Each dystonia subgroup had distinct patterns of altered FDG-PET uptake. Focal glucose hypometabolism of the pallidi, putamina or both, was the commonest finding, except in PANK2, where basal ganglia metabolism appeared normal. HPRT1 uniquely showed glucose hypometabolism across all nine cerebral regions. Temporal lobe glucose hypometabolism was found in KMT2B, HPRT1 and CP-Kernicterus. Frontal lobe hypometabolism was found in SGCE, HPRT1 and PANK2. Thalamic and brainstem hypometabolism were seen only in HPRT1, CP-Preterm and CP-term dystonia cases. The combination of frontal and parietal lobe hypermetabolism was uniquely found in CP-term cases. PANK2 cases showed a distinct combination of parietal hypermetabolism with cerebellar hypometabolism but intact putaminal-pallidal glucose metabolism. HPRT1, PANK2, CP-kernicterus and CP-preterm cases had cerebellar and insula glucose hypometabolism as well as parietal glucose hypermetabolism. The study findings offer insights into the pathophysiology of dystonia and support the network theory for dystonia pathogenesis. ‘Signature’ patterns for each dystonia subgroup could be a useful biomarker to guide differential diagnosis and inform personalized management strategies.

BackgroundAchondroplasia is associated with foramen magnum stenosis (FMS) and significant risk of morbidity and sudden death in infants. A sensitive and reliable method of detecting infants who require decompressive surgery is required. This study aims to describe the incidence and severity of FMS in an unselected, sequential series of infants using a novel MRI score and retrospectively correlate severity with clinical examination and cardiorespiratory sleep (CRS) studies.MethodsThe Achondroplasia Foramen Magnum Score (AFMS) was developed and scores were retrospectively correlated with clinical and CRS data over a 3-year period.ResultsOf 36 infants (M:F, 18:18), 2 (5.6%) did not have FMS (AFMS0); 13 (36.1%) had FMS with preservation of the cerebrospinal fluid (CSF) spaces (AFMS1); 3 (8.3%) had FMS with loss of the CSF space but no spinal cord distortion (AFMS2); 13 (36.1%) had FMS with flattening of the cervical cord without signal change (AFMS3); and 5 (13.9%) had FMS resulting in cervical cord signal change (AFMS4). Mean Total Apnea and Hypopnea Index (TAHI) for AFMS0–4 was 3.4, 6.41, 2.97, 10.5 and 25.8, respectively. Severe TAHI had a specificity of 89% but only a 59% sensitivity for AFMS3–4. Neurological examination was normal in 34/36 (94%) patients. Overall, 9/36 (25%) infants required neurosurgery with minimal surgical complications.ConclusionsClinical examination and CRS have a low sensitivity for predicting the effects of foramen stenosis on the spinal cord. Routine screening with MRI using AFMS can aid in detecting early spinal cord changes and has the potential to reduce infant morbidity and mortality.

OBJECTIVE. The purpose of this article is to review the characteristic CT and MRI findings associated with monogenetic causes of ischemic and hemorrhagic stroke in children and young adults. CONCLUSION. Ischemic and hemorrhagic stroke in children and young adults remains a common cause of acquired disability but is underrecognized. Brain parenchymal and vascular imaging is commonly performed as part of the comprehensive evaluation of young patients presenting with stroke. Familiarity with these patterns of disease enables early recognition of an underlying inherited condition.

The “epilepsy-dyskinesia” spectrum is increasingly recognized in neurogenetic and neurometabolic conditions. It can be challenging to diagnose because of clinical and genetic heterogeneity, atypical or nonspecific presentations, and the rarity of each diagnostic entity. This is further complicated by the lack of sensitive or specific biomarkers for most nonenzymatic neurometabolic conditions. Nevertheless, clinical awareness and timely diagnosis are paramount to facilitate appropriate prognostication, counseling, and management.This report describes a case of a teenage girl who had presented at 14 months with a protracted illness manifesting as gastrointestinal upset and associated motor and cognitive regression.A choreoathetoid movement disorder, truncal ataxia, and microcephaly evolved after the acute phase. Neurometabolic and inflammatory investigations, EEG, brain MRI, muscle biopsy (including respiratory chain enzyme studies), and targeted genetic testing were unremarkable. A second distinct regression phase ensued at 14 years consisting of encephalopathy, multifocal motor seizures, absent deep tendon reflexes and worsening movements, gut dysmotility, and dysphagia. Video EEGs showed an evolving developmental and epileptic encephalopathy with multifocal seizures and nonepileptic movements. MRI of the brain revealed evolving and fluctuating patchy bihemispheric cortical changes, cerebellar atrophy with signal change, mild generalized brain volume loss, and abnormal lactate on MR spectroscopy. The article discusses the differential diagnostic approach and management options for patients presenting with neurologic regression, encephalopathy, seizures, and hyperkinetic movements. It also emphasizes the utility of next-generation sequencing in providing a rapid, efficient, cost-effective way of determining the underlying etiology of complex neurologic presentations.

The use of standardized imaging protocols is paramount in order to facilitate comparable, reproducible images and, consequently, to optimize patient care. Standardized MR protocols are lacking when studying head and neck pathologies in the pediatric population. We propose an international, multicenter consensus paper focused on providing the best combination of acquisition time/technical requirements and image quality. Distinct protocols for different regions of the head and neck and, in some cases, for specific pathologies or clinical indications are recommended. This white paper is endorsed by several international scientific societies and it is the result of discussion, in consensus, among experts in pediatric head and neck imaging.

Imaging plays a crucial role in evaluating paediatric patients with non-traumatic head and neck lesions in an emergency setting because clinical manifestations of these entities can overlap. For this reason, radiologists must be familiar with the clinical and imaging findings of prevalent paediatric head and neck emergencies. In this review, we present techniques and imaging clues for common complications of pathological processes in the paediatric head and neck, with a focus on the clinical scenario as a starting point for the radiologic approach.

Background/goal: Hypertrophic pachymeningitis is a rare chronic inflammatory disorder characterized by marked fibrous thickening of the cerebral and/or spinal dura mater. This condition has largely been reported in adults, but there are very few reports in children. Methods: We describe a 14-year-old boy with idiopathic hypertrophic pachymeningitis, who presented with deteriorating vision on a background of severe headache. We evaluated pediatric cases of hypertrophic pachymeningitis and compared treatments and their relation to outcomes. Results: There are only eleven pediatric cases of hypertrophic pachymeningitis reported in the literature. In the patients treated with steroids either at presentation or subsequent relapses, a good response was reported. In the cases with delayed initiation of steroid treatment, this was often related to an incomplete recovery. In our patient, this delay may have contributed to his poor visual outcome. Conclusions: Early initiation of steroid treatment in children with idiopathic hypertrophic pachymeningitis may improve outcomes.

Acute myelopathy presenting in childhood can be clinically classified based on the location of injury (with resulting spinal syndrome) or the cause (broadly traumatic or non-traumatic). Types of nontraumatic myelopathy include ischaemic, infectious, inflammatory, nutritional, and metabolic causes, some of which may be part of a systemic illness such as systemic lupus erythematosus or a demyelinating disease such as multiple sclerosis. Nonaccidental injury is an important consideration in cases of traumatic myelopathy, which may often be associated with other injuries. Assessment should include neuroimaging of the brain and spinal cord, with further investigations targeted based on the most likely differential diagnoses; for example, a child with suspected demyelinating disease may require specialist cerebrospinal fluid and serological testing. Management also will differ based on the cause of the myelopathy, with several of these treatments more efficacious with earlier initiation, necessitating prompt recognition, diagnosis, and treatment of children presenting with symptoms of a myelopathy. Important components of holistic care may include physiotherapy and occupational therapy, with multidisciplinary team involvement as required (for example psychological support or specialist bowel and bladder teams).

The skull base is a critical structure in the craniofacial region, supporting the brain and vital facial structures in addition to serving as a passageway for important structures entering and exiting the cranial cavity. This paper will review and highlight some of the embryology, developmental anatomy, including ossification, and related abnormalities of the anterior, central and posterior skull base using illustrative cases and tables. Pathologies such as dermoids/epidermoids, cephaloceles, nasal gliomas, glioneuronal heterotopias, various notochordal remnants, persistent craniopharyngeal canal, teratomas, platybasia, basilar invagination, clival anomalies and Chiari malformations will be discussed. Developmental pearls and pitfalls will also be highlighted.

Background and objectives Ictal epileptic headache is a rare form of painful seizure, habitually consisting of migrainous or tension-type headache. We describe a case of a patient with short-lasting, severe retroorbital pain attacks caused by frontal lobe epilepsy. Case report A 25-year-old male patient presented with recurrent attacks of paroxysmal, short-lasting, excruciating left periorbital and facial pain mainly occurring from sleep. After intracranial EEG exploration and resection of a right prefrontal focal cortical dysplasia, long-term seizure and headache remission was obtained. Discussion Our case extends the clinical and neuroanatomical spectrum of ictal epileptic headache and suggests that long-term remission can be obtained by resective epilepsy surgery. It also reinforces the role of the prefrontal cortex in the pain matrix and pain generation. Conclusion Despite its rarity, ictal epileptic headache should be suspected in selected patients, particularly those with other ictal symptoms and signs, history of epileptic seizures, or neuroimaging abnormalities.

Background Neurocysticercosis is a helminthic infestation of the brain by the encysted larval form of the human tape worm Taenia Solium. It is a common cause of focal epilepsy in countries with inadequate sanitation following oro-faecal transmission and ingestion of food contaminated with TaeniaSolium eggs. The larvae can lodge in different parts of the human body including the brain parenchyma resulting invariable neurological clinical manifestations depending on the affected site. Onset of symptoms depends on the host immune response and on parasite defence mechanism. Over 90% patients present with focal seizures. Localised oedema surrounding the lesion can result in headaches from raised intracranial pressure, obstructive hydrocephalus. Other forms include spinal cysticercosis and ophthalmic cysticercosis. The diagnosis is usually made on clinical grounds, confirmed by imaging and immunodiagnostic tests. Case Report We report a previously well 13 year old girl who presented with a single episode of generalised tonic clonic seizure. She gave a 4 month history of altered sensation in her right upper limb and 1 month history of focal sensorimotor seizures. Examination showed subtle weakness of the right side of her face and upper arm. MRI brain scan showed a well defined left parietal lesion in the grey white matter junction with surrounding oedema and was referred to neurosurgery with suspicion of tumour. On review the images were suggestive of atypical infection - Cysticercosis or Tuberculoma. She was given Dexamethasone and Levetiracetam with good effect. At surgery she had a well encapsulated cystic lesion that was excised. Histopathology showed chronic cerebral lesion with parasitic cyst. Microscopy confirmed presence of a tapeworm larva. Following surgery she was started on Albendazole. Further history revealed regular camping trips at farms and woodland areas. She also swam in ponds and rivers. She did not report tic bites. Her diet included pork. She had been abroad. Conclusions Unifocal Neurocysticercosis in non-endemic countries is in the list space occupying lesions mistaken for a brain tumour. It presents with focal epilepsy and its diagnosis can be challenging.

Background and PurposeHead motion causes image degradation in brain MRI examinations, negatively impacting image quality, especially in pediatric populations. Here, we used a retrospective motion correction technique in children and assessed image quality improvement for 3D MRI acquisitions.Material and MethodsWe prospectively acquired brain MRI at 3T using 3D sequences, T1-weighted MPRAGE, T2-weighted Turbo Spin Echo and FLAIR, in 32 unsedated children, including 7 with epilepsy (age range 2–18 years). We implemented a novel motion correction technique: Distributed and Incoherent Sample Orders for Reconstruction Deblurring using Encoding Redundancy (DISORDER). For each subject and modality, we obtained 3 reconstructions: as acquired (Aq), after DISORDER motion correction (Di), and Di with additional outlier rejection (DiOut).We analyzed 288 images quantitatively, measuring 2 objective no-reference image quality metrics: Gradient Entropy (GE) and MPRAGE White Matter Homogeneity (WM-H). As a qualitative metric, we presented blinded and randomized images to 2 expert neuroradiologists who scored them for clinical readability.ResultsBoth image quality metrics improved after motion correction for all modalities and improvement correlated with the amount of intrascan motion. Neuroradiologists also considered the motion corrected images as of higher quality (Wilcoxon’s z = −3.164 MPRAGE, z = −2.066 TSE, z = −2.645 FLAIR, for all p < 0.05).ConclusionsRetrospective image motion correction with DISORDER increased image quality both from an objective and qualitative perspective. In 75% of sessions, at least one sequence was improved by this approach, indicating the benefit of this technique in unsedated children for both clinical and research environments.

There is an extensive and diverse set of medical conditions affecting the neonatal brain within the spectrum of neurometabolic disorders. As such, their clinical presentations can be rather nonspecific, and can often mimic acquired entities such as hypoxic-ischemic encephalopathy and sepsis. Similarly, the radiological findings in these entities can also be frequently nonspecific, but a more detailed analysis of imaging findings (especially magnetic resonance imaging) alongside the relevant clinical details can be a rewarding experience, thus enabling a timely and targeted diagnosis. Early diagnosis of an underlying neurometabolic disorder is vital, as some of these entities are potentially treatable, and laboratory and genetic testing can be precisely targeted. Further, their detection helps with counselling families for future pregnancies. We present a review of neurometabolic disorders specific to the newborns with a focus on how neuroimaging findings match their clinical presentation patterns.

Unlike adult neurofibromatosis type 2 (NF2), which presents with symptoms related to bilateral vestibular schwannomas, children with NF2 most frequently present with ocular, dermatological, and neurological symptoms. Arteriopathy, a well-established feature in neurofibromatosis type 1, is not a widely recognized feature of NF2. Here we report three children with NF2 with cerebral arteriopathy and/or arterial ischaemic stroke. Bevacizumab, a vascular endothethial growth factor inhibitor, is an established treatment for rapidly growing vestibular schwannomas; however, it carries a risk of both ischaemic and haemorrhagic stroke. Thus, the role of screening and risk to benefit ratio of bevacizumab in NF2 merit further consideration. WHAT THIS PAPER ADDS: Children with neurofibromatosis type 2 (NF2) may be at increased risk of cerebral vasculopathy and arterial ischaemic stroke. Targeted magnetic resonance angiography should be performed in children with NF2 who are being considered for bevacizumab therapy.

Type 1 Neurofibromatosis (NF1) is a common autosomal dominant condition, with a major impact on the nervous system, eye, bone, and skin, and a predisposition to malignancy. At present it is not possible to predict clinically or on imaging, whether a brain tumour will remain indolent or undergo high-grade change. There are no consensus guidelines on the follow-up of non-optic pathway glioma (non-OPG) tumours in NF1. One hundred patients from the National NF1 Service with generalised NF1 and a diagnosis of non-OPG glioma were followed up for a median time of 63 months after glioma detection. Forty-two patients underwent surgical intervention. Ninety-one percent (38) of those requiring surgery did so within 5 years of diagnosis of glioma. Serial neuroimaging was undertaken in 88 patients. In 66 (75%), the lesion on the scan was stable or had improved at follow-up. High-grade lesions were present in five patients and were strongly associated with tumours in the thalamus (p = 0.001). Five patients died during follow-up. The diagnosis of high-grade glioma had a HR of 99.7 (95% CI 11.1–898.9, p

Background We present an unusual neuroimaging finding in a young girl with genetically confirmed vanishing white matter disease and a possible response to immunotherapy. Methods and results 2.5 yr old girl, presented with acute onset unsteadiness and encephalopathy following a viral illness. MRI showed global symmetric white matter abnormality, with symmetric enhancement of cranial nerves (III and V) and of cervical and lumbar roots. She received immunotherapy for her encephalopathic illness with white matter changes. Follow up neuroimaging showed resolution of white matter edema and resolution of the change in the brainstem. Genetic testing confirmed a diagnosis of vanishing white matter disease (VWMD). Conclusion Craniospinal nerve enhancement and possible response to immunotherapy has not been described in vanishing white matter disease.

Purpose To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understanding of distinct imaging features in paediatric patients with syndromic hearing loss. Methods A detailed search of electronic databases has been conducted, including PubMed, Ovid Medline, Scopus, Cochrane Library, Google Scholar, National Institute for Health and Care Excellence (NICE), Embase, and PsycINFO. Results Syndromic causes of hearing loss are characterised by different and sometimes specific abnormalities in the temporal bone. Conclusion A complete knowledge of the image findings in the temporal bones, brain, skull and other body regions is critical for the optimal assessment and management of these patients.

Paediatric posterior fossa lesions can have much overlap in their clinical and radiological presentation. There are, however, a number of key imaging features that can help the reading radiologist to distinguish tumours from important tumour mimics which are often inflammatory or metabolic entities. This pictorial review provides a number of important cases that proved challenging on imaging and illustrates some common pitfalls when interpreting lesions in the posterior fossa in children. Not everything that is abnormal will be a tumour, but often other causes are overlooked and misinterpreted as tumours, leading to great morbidity for that child. This article highlights some lesions that were mistaken as tumours and will introduce the reader to less commonly seen pathologies which are important to consider on a differential list for this location.

Patients with X-linked deafness carry mutations in the POU3F4 gene and have pathognomonic inner ear malformations characterised by symmetrical incomplete partition type 3 (absent modiolus and lamina spiralis but preserved interscalar septum in a normal-sized cochlea) and large internal auditory meatus (IAM) with an increased risk of gusher during stapes surgery. We describe a range of fairly characteristic malformations in the hypothalamus of some patients with this rare condition, ranging from subtle asymmetric appearance and thickening of the tuber cinereum to more marked hypothalamic enlargement. We discuss the role of POU3F4 in the normal development of both the inner ear and hypothalamus and the proposed pathophysiology of incomplete partition type 3.

ObjectivePediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) is a severe immune-mediated disorder. We aim to report the neurologic features of children with PIMS-TS.MethodsWe identified children presenting to a large children's hospital with PIMS-TS from March to June 2020 and performed a retrospective medical note review, identifying clinical and investigative features alongside short-term outcome of children presenting with neurologic symptoms.ResultsSeventy-five patients with PIMS-TS were identified, 9 (12%) had neurologic involvement: altered conciseness (3), behavioral changes (3), focal neurology deficits (2), persistent headaches (2), hallucinations (2), excessive sleepiness (1), and new-onset focal seizures (1). Four patients had cranial images abnormalities. At 3-month follow-up, 1 child had died, 1 had hemiparesis, 3 had behavioral changes, and 4 completely recovered. Systemic inflammatory and prothrombotic markers were higher in patients with neurologic involvement (mean highest CRP 267 vs 202 mg/L, p = 0.05; procalcitonin 30.65 vs 13.11 μg/L, p = 0.04; fibrinogen 7.04 vs 6.17 g/L, p = 0.07; d-dimers 19.68 vs 7.35 mg/L, p = 0.005). Among patients with neurologic involvement, these markers were higher in those without full recovery at 3 months (ferritin 2284 vs 283 μg/L, p = 0.05; d-dimers 30.34 vs 6.37 mg/L, p = 0.04). Patients with and without neurologic involvement shared similar risk factors for PIMS-TS (Black, Asian and Minority Ethnic ethnicity 78% vs 70%, obese/overweight 56% vs 42%).ConclusionsBroad neurologic features were found in 12% patients with PIMS-TS. By 3-month follow-up, half of these surviving children had recovered fully without neurologic impairment. Significantly higher systemic inflammatory markers were identified in children with neurologic involvement and in those who had not recovered fully.

Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an additional patient with recessive MSTO1-related muscular dystrophy (MSTO1-RD), and clinical and radiological evidence of progressive cerebellar involvement. Whole-exome sequencing identified two novel MSTO1 missense variants, c.766C > T (p. (Arg256Trp) and c.1435C > T (p. (Pro479Ser), predicted as damaging by in silico tools. We also report a distinct pattern of selective involvement on muscle MRI in MSTO1-RD. This case confirms a consistent MSTO1-related neuromuscular phenotype and in addition suggests a progressive neurological component at least in some patients, in keeping with the mitochondrial role of the defective protein.

AIM: To analyse the maximum standardised uptake value (SUVmax) ratio between tonsils in patients with and without tonsillar carcinoma to determine useful diagnostic thresholds.MATERIALS AND METHODS: Positron-emission tomography (PET)/computed tomography (CT) examinations of patients with suspected head and neck squamous cell carcinoma (SCC) and controls from April 2013 to September 2016 were reviewed retrospectively. Tonsillar SUVmax ratios (ipsilateral/contralateral for malignant tonsils, maximum/minimum for patients without [controls]) were calculated and used to construct a receiver operating characteristic (ROC) curve.RESULTS: Twenty-five patients had tonsillar carcinoma (mean SUVmax ratio of 2, range 0.89-5.4) and 86 patients acted as controls (mean SUVmax ratio of 1.1, range 1-1.5). Using the ROC, the most accurate SUVmax ratio for identifying malignancy was >1.2 (77% sensitivity, 86% specificity). A potentially more clinically useful SUVmax ratio is ≥1.6 with 62% sensitivity and 100% specificity.CONCLUSION: An SUVmax ratio between tonsils of ≥1.6 is highly suspicious for SCC and could be used to direct site of biopsy. Some malignant tonsils had normal FDG uptake; therefore, PET/CT should not be used to exclude tonsillar cancer. Minor asymmetrical uptake is frequently seen in non-malignant tonsils and does not necessarily require further investigation. Due to the single centre nature of this study and the recognised variation in SUV measurements between PET scans, other centres may need to develop their own cut-offs.

Although currently available data suffice to support the use of protease inhibitor monotherapy in selected patients, there is concern about the antiviral activity of this regimen in the long term and in viral sanctuaries, such as the central nervous system. We report a case of encephalitis related to viral escape while receiving darunavir/ritonavir monotherapy in a carefully selected patient for participation in a clinical trial.

Posterior ischaemic optic neuropathy is a rare cause of visual loss believed to be due to infarction in the territory of the pial branches of the ophthalmic artery. The disorder most commonly occurs in the context of prolonged surgery or giant cell arteritis, and the absence of clinical signs in the eye means that the diagnosis is one of exclusion. Here, we present two cases studies of patients who developed posterior ischaemic optic neuropathy confirmed by the observation of secondary changes on diffusion-weighted imaging sequences. In the first case visual loss followed robotic pelvic surgery, and in the second case it was associated with multiorgan dysfunction secondary to severe pancreatitis. Our cases demonstrate that in the right clinical context, diffusion-weighted imaging can provide a positive diagnosis of acute posterior ischaemic optic nerve injury in the acute phase.

We describe two women presenting with severe postpartum headache associated with hypertension but with no other signs or investigation results to suggest pre-eclampsia. In one case, the headache was associated with atypical subarachnoid haemorrhage. The variable nature of the headache and the degree of associated hypertension raised the clinical suspicion of reversible cerebral vasoconstriction syndrome, confirmed on MR angiography. Both patients took nimodipine until the cerebral vasoconstriction had resolved radiologically.

We conducted an extensive review of the literature relevant to inner ear measurements in normal and malformative conditions to select reproducible methods and normative ranges that may be used in clinical practice.A review of the published literature was performed in the English language using PubMed with appropriate keywords. We selected only those articles containing normative values of inner ear structures.The following measurements were identified as reproducible and sensitive for the diagnosis of inner malformations: cochlear height in coronal plane; maximal diameter of bony island of lateral semicircular canal; width of vestibular aqueduct: 1) at midpoint; 2) at operculum in axial plane; cochlear canal and cochlear width in multiplanar reconstructions (MPR)/axial; cochlear length. The following cutoffs for normal inner ears are proposed based on the comparative analysis of the literature: cochlea height:4.3 mm; lateral semicircular canal bony island:3 mm; vestibular aqueduct:0.9 (midpoint) and1.9 mm (operculum); cochlear canal (axial MPR):1.4 mm and2.5 mm; cochlear width (MPR):5.4 mm.Measurements of inner ear structures can help in the interpretation of computed tomography images. They increase the sensitivity in detecting inner ear malformations, especially cochlear hypoplasia now considered more common than previously thought.

Herpes simplex virus encephalitis (HSVE) is a devastating condition that relapses, often with a chorea in children, despite adequate antiviral treatment. At relapse, evidence of viral replication is frequently absent, suggesting that the relapse may be immune-mediated. Seven children who had a neurological relapse following their initial encephalitis, identified from 20 cases of pediatric HSVE, were studied. Serum and/or cerebrospinal fluid (CSF) were tested for N-methyl-D-aspartate receptor (NMDAR) and other antibodies previously reported in central nervous system autoimmunity. Five of the 7 relapsing children had choreoathetosis; 2 of these were NMDAR antibody-positive, 2 were negative (1 with HSV-positive CSF), and 1 was not available for testing. An additional patient, who relapsed with cognitive regression but with no movement disorder, was also NMDAR antibody-positive. In 2 of the NMDAR antibody-positive patients who were treated at relapse and in 1 who was treated only after 10 years of having a relapsing encephalopathy, a beneficial response was observed. Neurological relapses after HSVE may frequently be immune-mediated, particularly in children with chorea. NMDAR antibodies are common, and immunotherapy may be beneficial.

Voltage gated potassium channel (VGKC) complex antibodies are associated with encephalopathies both in adult and children. The incidence of antibodies in the central nervous system demyelinating disorders is increasingly reported although their direct pathogenic role remains to be evaluated, with the exception of Aquaporin 4 antibodies. Here we describe a case of a 28 month old boy presenting with acute disseminated encephalomyelitis, with positive VGKC-complex antibodies and low sodium levels. He was treated with steroids and made a clinical and radiological recovery with normalisation of antibody levels. © 2012 Elsevier B.V. All rights reserved.

In childhood, central nervous system (CNS) presentations associated with antibodies to voltage-gated potassium channel (VGKC) complex include limbic encephalitis, status epilepticus, epileptic encephalopathy, and autistic regression. We report the cases of two individuals (a 6-year-old male and an 11-year-old female) who presented with an acute-onset explosive seizure disorder with positive VGKC complex antibodies and bilateral basal ganglia changes on magnetic resonance imaging (MRI). Both patients made a complete clinical recovery, without immunotherapy, with resolution of the MRI changes and normalization of the antibody levels. Extended antibody testing, including testing for leucine-rich glioma-inactivated 1 (LGI1), contactin-associated protein 2, and contactin-2 was negative. This could suggest that the clinico-radiological phenotype in our patients may in fact be associated with a novel autoreactive target(s) within the VGKC complex, as may be the case in other children with VGKC complex-mediated CNS disorders. © The Authors. Developmental Medicine and Child Neurology © 2012 Mac Keith Press.

Objectives:(1) To study the prevalence and characteristics of large endolymphatic sac internal compartments on thin-section T2- and T2*-weighted magnetic resonance imaging, and to relate these to other large endolymphatic sac magnetic resonance imaging features, and (2) to correlate the compartment imaging features, endolymphatic sac size and labyrinthine anomalies with the patients' clinical and audiological data.Method:Magnetic resonance imaging studies for 38 patients with large endolymphatic sac anomalies were retrospectively reviewed in a tertiary referral centre. Endolymphatic sac compartment presence, morphology and imaging signal were assessed. Endolymphatic sac size and labyrinthine anomalies were also recorded. Endolymphatic sac compartments and other imaging features were correlated with clinical and audiological data.Results:Compartments were present in 57 per cent of the imaged endolymphatic sacs, but their presence alone did not correlate with other imaging features or clinical data. The endolymphatic sac : internal auditory meatus signal ratio was associated with a history of sudden or fluctuating hearing loss. Hearing loss correlated with opercular and extraosseous endolymphatic sac size measurements. A larger midpoint intraosseous endolymphatic sac size was associated with clear fluid loss at cochlear implantation.Conclusion:The magnetic resonance imaging characteristics of large endolymphatic sac compartments have been defined. The endolymphatic sac size and distal compartment signal should be recorded, as these provide prognostic information and assist the planning of appropriate interventions.