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Abstract Background Spinal arteriovenous malformations (AVM) consist of a heterogeneous group of pathological vascular entities that affect the spinal cord parenchyma either directly or indirectly. Case presentation We present an unusual case of spinal arteriovenous malformation (type 2) in an 18-month-old girl who presented with weakness of both lower limbs and urinary incontinence. She was diagnosed with a spinal AVM with large intramedullary nidus and paraspinal extension which was managed with endovascular embolization. Conclusion Spinal cord AVM in children can be debilitating. If presented early, patient can be taken up for embolization, which is a relatively safe procedure with better neurological outcome. Our case illustrates the successful role of interventional radiology in the treatment of this rare condition.

Background: Peripheral spondyloarthritis (pSpA) is usually associated with psoriasis, inflammatory bowel disease, or preceding infection (called reactive arthritis). Pure pSpA is a clinical entity wherein there are enthesitis, dactylitis, or arthritis, without any of the above-associated conditions. We aimed to describe the clinical, laboratory, radiological, and management profile of pure pSpA, among patients with pSpA presenting to the rheumatology outpatient department. Materials and Methods: In this retrospective, observational study, medical records of all the patients diagnosed as pSpA by a rheumatologist, between January 1, 2016, and December 31, 2018, were included. Among these, thirty patients qualified to be called pure pSpA, and we reported their demographic characteristics (age and sex), clinical features (onset of disease, clinical signs, and symptoms), laboratory parameters (erythrocyte sedimentation rate, hemoglobin, and C-reactive protein), radiological findings, and treatment pattern. Results: Thirty patients fulfilled the criteria for pure pSpA. The mean age (standard deviation) of the patients at onset was 32 ± 5.8 years. The mean disease duration before diagnosis was 9.7 months. Arthritis, enthesitis, and dactylitis were present in 29 (96.7%), 8 (26.7%), and 9 (30%) patients, respectively. Eighteen (60%) patients had monoarthritis, while 11/30 (36.7%) had oligoarthritis, at presentation. HLA B27 was positive in 24/30 (80%) patients. Seven patients (23.3%) had bilateral sacroiliitis on imaging and two (6.7%) had unilateral sacroiliitis. Twenty patients (66.7%) required conventional synthetic disease-modifying anti-rheumatic drugs (csDMARDs), while two (6.7%) required biological DMARDs in the form of anti-tumor necrosis factor-alpha inhibitors. Conclusion: Pure pSpA is a relatively rare clinical disease which presents with either a mono or oligoarthritis and shows good treatment response to csDMARDs.

Objectives: Paediatric neuroradiology is one of the most challenging areas in the wide gamut of disciplines that modern radiology encompasses. There is a paucity of literature on the epidemiology of paediatric neuroimaging and contextual reporting in this field. The objectives of this study were to study the epidemiology of the paediatric neurological disorders and to study the role of contextual reporting in this field. Materials and methods: This study was conducted at a tertiary care centre in Southwestern India over 1 year. It was a retrospective epidemiological study. The authors studied 112 patients referred as in- or outpatients for a brain MRI for a wide range of indications. The authors analysed the reports issued by their radiologists and reformatted them into a newly proposed contextual reporting template for the paediatric brain. Then, the authors conducted an epidemiological analysis of the compiled data. Results: The authors found that the most common indication for paediatric neuroimaging was seizures or seizure-like episodes, followed by developmental delay. The most common abnormality on imaging was sequelae to hypoxic or hypoglycaemic insult followed by brain atrophy. The authors found a wide range of other abnormalities illustrating the wide spectrum of paediatric neuroradiology. Conclusion: The authors’ study fills a gap in current literature regarding the epidemiology of conditions encountered in paediatric neuroradiology. The authors also propose a novel reporting format for contextual reporting in this field, which may help in reducing errors in reporting and reduce reporting time.

Anti-phospholipid syndrome is an autoimmune disorder characterized by episodes of arterial and/or venous thrombosis and/or pregnancy morbidity in the presence of anti-phospholipid antibodies. Catastrophic anti-phospholipid syndrome is an accelerated form of the disease with rapid involvement of multiple organ systems often posing a diagnostic challenge. There is a paucity of literature on the myriad presentations of catastrophic anti-phospholipid syndrome owing to the orphan nature of the disease. We present three cases of catastrophic anti-phospholipid syndrome in patients with systemic lupus erythematosus that presented with episodes of thrombosis involving both arterial and venous systems and multisystem organ failure. Timely diagnoses were made based on a high index of suspicion and were managed with a combination of systemic glucocorticoids, cyclophosphamide, plasmapheresis, intravenous immunoglobulin and other supportive measures. However, despite providing the standard of care, we encountered a poor outcome in two of these patients, highlighting the high mortality associated with catastrophic anti-phospholipid syndrome.

Introduction: Takayasu's arteritis (TA) is a granulomatous vasculitis of the large vessels, mainly involving the aorta and its branches. The disease has diverse manifestations across various ethnic populations. The epidemiological profile of TA has not been well established in India, with existing studies demonstrating varied clinical findings. Materials and Methods: In this retrospective, hospital record-based study, 30 TA patients, meeting 1990, American College of Rheumatology criteria for TA, were included. The study intended to characterize the demographic profile, clinical characteristics, laboratory parameters, imaging findings, and management profiles of TA, amongst patients presenting to the rheumatology outpatient department of a tertiary care hospital in India. Results: The mean age at presentation was 26.4 ± 11.4 years. The male to female ratio was 1:5. The mean duration from onset of symptoms to point of diagnosis was 8.7 ±5.7 years. Upper limb claudication was the most frequent symptom seen in 23/30 (76.7%) patients, followed by syncope in 12/30 patients (79%). The most common arteries involved were the subclavian artery, carotid artery and the renal arteries (counted together). Type 1 and Type V were the most common angiographic subtypes, each seen in ten (33.3%) patients. Methotrexate was the most frequently used conventional synthetic disease modifying anti-rheumatic drug (csDMARD) and was used in 27/30 (90%) patients. A total of five (16.7%) patients required biological DMARDs (bDMARD) in view of refractory disease, four patients received tocilizumab while one patient received infliximab. Conclusion: TA is a female predominant, large vessel vasculitis. The subclavian arteries, followed by the common carotid and the renal arteries, are the most common vessels involved. Tocilizumab is fast emerging as an effective bDMARD for disease control especially in csDMARD refractory cases.

Kimura disease (KD) is a rare chronic inflammatory disorder of unknown cause, primarily seen in young Asian males. The disease is characterized by painless subcutaneous swelling in head and neck region, accompanied by regional lymphadenopathy and frequent salivary gland enlargement. Blood and tissue eosinophilia, and elevated immunoglobulin E (IgE) levels, are common associations. Characteristic histopathological findings of biopsy specimens obtained from the subcutaneous swellings or lymph nodes include eosinophilic infiltrates, follicular hyperplasia, and proliferation of postcapillary venules. The course is usually waxing and waning, albeit benign. Early diagnosis may spare the patient from unnecessary invasive procedures. We herein, describe a case of KD in an 18 years old male, who presented with subcutaneous swelling in the both cheek (right more than left) in 2014, underwent multiple surgical interventions for the same, before being reassessed and finally diagnosed as KD in 2020, based upon peripheral blood eosinophilia, raised serum IgE levels and histopathological findings. He subsequently made a good recovery on oral steroids.

IgG4-related disease (IgG4-RD) is an emerging disease concept that was first recognized in the 21st century. It has since then been attracting substantial attention in many fields of medicine as it tends to involve either synchronously or metachronously, various organs, including the pancreas, bile duct, lacrimal gland, salivary gland, and many others. This umbrella diagnosis now successfully explains a substantial number of disorders, which were previously regarded as “idiopathic.” Reports of the manifestations of IgG4-RD in the head and neck are extremely rare. Otologic manifestations have been reported, but only a handful of cases are available in literature that have been confirmed by immunohistopathology. We, herein, present a case of IgG4-RD of the middle ear, which manifested as a growth in the left mastoid and middle ear cavity, and became symptomatic with symptoms of chronic otitis media in the left ear, and was subsequently diagnosed to have IgG4-RD.

The peripheral high-flow vascular malformation (HFVM) comprises arteriovenous malformation (AVM) and fistula (AVF), shows varied clinical presentation (ranging from subtle skin lesion to life-threatening congestive heart failure), and frequently poses diagnostic and therapeutic challenges. Importance of assigning a specific diagnosis to the vascular malformation cannot be overstated, as the treatment strategy is based on the type of vascular anomaly. Although the International Society for the Study of Vascular Anomalies (ISSVA) classification system is the most commonly accepted system for classifying congenital vascular anomalies in clinical practice, the Cho–Do et al classification is of utmost help in guiding optimal mode of treatment in peripheral AVM. Although transarterial approach remains the most commonly employed route for peripheral AVM embolization, the role of transvenous and direct percutaneous approach is ever increasing and the final decision on the approach depends on angioarchitecture of the AVM. In this article, we review various commonly employed classification systems for congenital vascular anomalies, and describe clinical features, imaging and treatment strategies for peripheral arteriovenous malformation (PAVM). [ABSTRACT FROM AUTHOR]

Vein of Galen aneurysmal malformation (VGAM) is a rare congenital malformation characterised by arteriovenous fistulas between primitive choroidal arteries and the median prosencephalic vein, the embryonic precursor to the vein of Galen. Endovascular techniques have changed the management of these patients with improved prognosis. An eight-month-old with VGAM managed by endovascular embolisation using ethylene vinyl alcohol copolymer (EVOH) developed a chemical abscess - a rare complication. It was managed conservatively and showed promising clinical outcome., Contribution: Chemical abscesses following EVOH embolisation are scarce - with imaging differentials, which include brain abscess and onyx granuloma. Knowledge and successful identification of this entity are essential as its management as prognoses differ. Chemical abscess is managed conservatively and has a good prognosis., Competing Interests: The authors declare that they have no financial or personal relationships that may have inappropriately influenced them in writing this article., (© 2024. The Authors.)

Objective: To describe the comorbidities in children with cerebral palsy (CP) and determine the characteristics associated with different impairments., Design: Cross-sectional study., Setting: Tertiary care referral centre in India., Patients: Between April 2018 and May 2022, all children aged 2-18 years with a confirmed diagnosis of CP were enrolled by systematic random sampling. Data on antenatal, birth and postnatal risk factors, clinical evaluation and investigations (neuroimaging and genetic/metabolic workup) were recorded., Main Outcome Measures: Prevalence of the co-occurring impairments was determined using clinical evaluation or investigations as indicated., Results: Of the 436 children screened, 384 participated (spastic CP=214 (55.7%) (spastic hemiplegic=52 (13.5%); spastic diplegia=70 (18.2%); spastic quadriplegia=92 (24%)), dyskinetic CP=58 (15.1%) and mixed CP=110 (28.6%)). A primary antenatal/perinatal/neonatal and postneonatal risk factor was identified in 32 (8.3%), 320 (83.3%) and 26 (6.8%) patients, respectively. Prevalent comorbidities (the test used) included visual impairment (clinical assessment and visual evoked potential)=357/383(93.2%), hearing impairment (brainstem-evoked response audiometry)=113 (30%), no understanding of any communication (MacArthur Communicative Development Inventory)=137 (36%), cognitive impairment (Vineland scale of social maturity)=341 (88.8%), severe gastrointestinal dysfunction (clinical evaluation/interview)=90 (23%), significant pain (non-communicating children's pain checklist)=230 (60%), epilepsy=245 (64%), drug-resistant epilepsy=163 (42.4%), sleep impairment (Children's Sleep Habits Questionnaire)=176/290(60.7%) and behavioural abnormalities (Childhood behaviour checklist)=165 (43%). Overall, hemiparetic and diplegic CP and Gross Motor Function Classification System ≤3 were predictive of lesser co-occurring impairment., Conclusion: CP children have a high burden of comorbidities, which increase with increasing functional impairment. This calls for urgent actions to prioritise opportunities to prevent risk factors associated with CP and organise existing resources to identify and manage co-occurring impairments., Trial Registration Number: CTRI/2018/07/014819., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)