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Aim: This retrospective study aims to analyse the epidemiology, clinical and neuroimaging features, treatment modalities, and outcomes of paediatric idiopathic intracranial hypertension (IIH) in a tertiary care centre in Australia. Methods: Using the International Classification of Diseases Diagnostic Criteria for IIH, we identified and analysed a cohort of children diagnosed with IIH over a 5‐year period (2017–2022). Data on patient demographics, symptomatology, examination findings, investigative results, treatments and outcomes were collected from medical records and electronic health records. Results: A total of 45 cases were analysed. The pre‐pubertal group saw a male predominance and the post‐pubertal a female one. Increased body mass index was an associated comorbidity in majority of patients. Headaches (89%) and visual symptoms (56%) were the most common symptoms, with tinnitus also seen in 20% of patients. Papilledema was detected in 91% of the cases examined. The commonest neuroimaging features were optic nerve sheath distention (78%) and empty sella (49%). Acetazolamide was the primary treatment, with most patients responding well. Only a minority required surgical intervention. Long‐term resolution of headaches was achieved in 89% of patients. Conclusions: The incidence of paediatric IIH in the West Australian population appears relatively high. It presents with subtle symptoms, emphasising the need for increased awareness among health‐care providers. Younger children may represent a distinct subgroup with unique clinical features. Timely diagnosis and aggressive medical management lead to favourable outcomes. However, weight loss interventions showed limited effectiveness. This study underscores the importance of early recognition and management of paediatric IIH to optimise patient outcomes. [ABSTRACT FROM AUTHOR]

Summary Histiocytoses are rare multi‐system disorders marked by abnormal histiocyte cell proliferation, affecting children with diverse clinical presentations. Classified into five groups in 2016, including Langerhans‐related (L), cutaneous (C), malignant (M), Rosai–Dorfman disease (R) and haemophagocytic lymphohistiocytosis (H), newer entities such as ALK‐positive histiocytosis have also emerged, heralding the era of molecular (sub)classification. Common entities include Langerhans cell histiocytosis (LCH), Erdheim–Chester disease (ECD), Rosai–Dorfman disease (RDD) and haemophagocytic lymphohistiocytosis (HLH). This pictorial essay aids radiologists in recognising and differentiating paediatric histiocytoses based on unique neuroimaging features. [ABSTRACT FROM AUTHOR]

Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults. [ABSTRACT FROM AUTHOR]

Background: Stroke survivors may suffer from a range of hearing impairments that may restrict their participation in postacute rehabilitation programs. Hearing impairment may have a significant impact on listening, linguistic skills, and overall communication of the affected stroke patient. However, no studies sought to systematically characterize auditory function of stroke patients in detail, to establish the different types of hearing impairments in this cohort of patients. Such information would be clinically useful in understanding and addressing the hearing needs of stroke survivors. Purpose: The present study aimed to characterize and classify the hearing impairments, using a detailed audiological assessment test battery, in order to determine the level of clinical need and inform appropriate rehabilitation for this patient population. Research Design: A case-control study. Study Sample: Forty-two recruited stroke patients who were discharged from a stroke unit and 40 control participants matched for age. Data Collection and Analysis: All participants underwent pure-tone audiometry and immittance measurements including acoustic reflex threshold, transient-evoked otoacoustic emissions, auditory-evoked brainstem response, and a central auditory processing assessment battery, performed in a single session. Hearing impairments were classified as peripheral hearing loss (cochlear and neural type), central auditory processing disorder (CAPD), and as a combination of CAPD and peripheral hearing loss. Results: Overall mean hearing thresholds were not significantly different between the control and stroke groups. The most common type of hearing impairment in stroke patients was the combination type, "peripheral and CAPD," in the 61- to 80-yr-old subgroup (in 55%), and auditory processing deficits in 18- to 60-yr-olds (in 40%), which were both significantly higher than in controls. Conclusions: This is the first study to examine hearing function in detail in stroke patients. Given the importance of hearing for the efficiency of communication, it is essential to identify hearing impairments and differentiate peripheral and central deficits to define an appropriate intervention plan. [ABSTRACT FROM AUTHOR]

Objective: 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., Data Sources and Study Selection: 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., Data Extraction and Data Synthesis: 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) and <1.9 mm (operculum); cochlear canal (axial MPR): >1.4 mm and <2.5 mm; cochlear width (MPR): >5.4 mm., Conclusion: 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.

Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults., (© The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.)

Objective: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy ( AARS2 -L), and highlight key differentiating features., Methods: ALSP and AARS2 -L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review. The phenotypic features were determined by combining published cases with those from our database., Results: A combined total of 74 cases of ALSP and 10 cases of AARS2 -L with neuroimaging data were identified. The mean age at onset was 42 years in ALSP and 26 years in AARS2 -L. Cognitive and motor symptoms were the most common symptoms overall in both. Ovarian failure was exclusive to AARS2 -L, present in all known female cases. Both ALSP and AARS2 -L showed a confluent, asymmetric, predominantly frontoparietal, periventricular pattern of white matter disease with subcortical U-fiber sparing; pyramidal tract and corpus callosum involvement; and diffusion changes in the white matter which we have termed "deep white matter diffusion dots." Central atrophy and corpus callosal thinning were prominent in ALSP and disproportionately mild in AARS2 -L when present. ALSP also occasionally showed ventricular abnormalities and calcifications in the frontal periventricular white matter, features not seen in AARS2 -L. AARS2 -L demonstrates white matter rarefaction which suppresses on fluid-attenuated inversion recovery MRI sequences, a feature not seen in ALSP., Conclusions: ALSP and AARS2 -L share similar clinical, imaging, and pathologic characteristics with key differentiating features that we have highlighted.