Hyperintense Signal Changes Research Articles

Neuropsychiatric Manifestations and Neuroimaging Changes of Neurologic Wilson Disease–A Cross Sectional Study

Background: Wilson disease is genetic disorder of copper metabolism which causes hepatic & neurologic manifestation mainly. Chelator therapy is usually given as first line treatment in symptomatic wilson disease. Objective: Objective of our study was to evaluate the neuropsychiatric menufestations of wilson disease. Methods: A Cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, a tertiary care premier Postgraduate Medical Institution of Bangladesh. Forty five (45) patients of neurologic wilson disease were evaluated at In-patient department of Paediatric Neurology, during the period of January 2015 to December 2020. Diagnosis of Neurologic wilson disease was done, based on the characteristic clinical features of progressive deterioration of scholastic performances, dysarthria and gait disorder along with ophthalmologic findings, biochemical & neuroimaging findings. Results: Total numbers of studied cases were 45. Mean age was 124.65± 20.69 months and male to female ratio was 1.8:1. Most of the patient (83.33%) arrived from poor socio-economic background and rural area (66.67%) of Bangladesh. Among them 20.0% had history of consanguineous mating parents and 17.78% had another affected sibs. Common presenting features were progressive deterioration of school performance (89.74%), gait disturbance (92.31%), dysarthria (92.31%) and dystonia (41.03%) of our studied children. Neuropsychiatric manifestations were very common among the affected children. Changes in behavior was present in 62.22% cases, and among them mania were present in 57.77% children. Other common neuropsychiatric manifestations were depression (35.55%), generalized anxiety disorder in 31.11% and loss of memory in 20% cases. Ophthalmological manifestations like KF ring (83.33%) also found in majority of patient. Neuroimaging study showed basal ganglia hyperintensity in 63.63.% , white matter hyper intense signal changes 18.18% cases and ischemic change in grey matter in 18.18% cases. Conclusion: In our study about two third cases of Neurologic Wilson diseases may present with Neuropsychiatric manifestations in children. Behavior changes were commonest neuropsychiatric manifestations which includes depression, mania, generalized anxiety disorder and loss of memory.In neuroimaging study bilateral basal ganglia hyperintensity were found in about three-fourth cases of our studied children. J Bangladesh Coll Phys Surg 2024; 42: 144-148

Baastrup’s disease prevalence across various age groups and its association with degenerative changes: insights from STIR sequence in MRI

PurposeBaastrup’s disease is characterized by abnormal contact between adjacent spinous processes. Our study is the first to systematically incorporate the STIR sequence, recognized for its heightened sensitivity to fluid and edema, into the MRI protocol for diagnosing Baastrup’s disease in symptomatic individuals. The objective is to determine its prevalence and association with lumbar spinal degenerative changes.Materials and methodsLumbar spinal MRI examinations of 375 patients performed between January 2021 and 2022 were retrospectively reviewed by two radiologists. Baastrup’s disease was diagnosed based on meeting any of the following criteria: lumbar interspinous bursitis, hyperintense signal changes in adjacent spinous processes, and ligaments on the STIR sequence. The study also investigated the presence of degenerative changes and interreader agreement among radiologists.ResultsBaastrup’s disease was found in 141 of 375 individuals (37.8%). It correlated significantly with degenerative lumbar changes such as bulging (P = 0.0012), herniation (P = 0.0033), disc degeneration (P = 0.0013), Modic changes (P = 0.034), facet osteoarthritis (P = 0.0041), spinal stenosis (P = 0.005), and anterolisthesis (P = 0.0049). No significant associations were observed with gender (P = 0.468) or retrolisthesis (P = 0.167). Its occurrence increased gradually, peaking at 87.5% in individuals aged 80 and above. Radiologists showed complete agreement with Baastrup’s diagnoses.ConclusionBaastrup’s disease is more commonly observed than being considered rare, displaying an incremental occurrence with increasing age in symptomatic individuals notably discernible on the STIR sequence. Using the STIR sequence seems to promote a consensus among radiologists, irrespective of their experience levels.

Effectiveness of Low Dose D-Penicillamine Therapy in Neurologic Wilson Disease - A Prospective Observational Study

Background: Wilson disease is an inherited disorder of copper metabolism that mostly manifests as hepatic and neurologic symptoms. Chelation therapy specially penicillamine is given as first line treatment in children with symptomatic Neurologic Wilson disease. Objective: Objective of the study was to assess the safety & the clinical outcome of treatment with low dose penicillamine in Neurologic Wilson disease. Methods: A longitudinal observational study was conducted at Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, a tertiary care Premier Postgraduate Medical Institution of Bangladesh. Thirty-nine (39) patients of Neurologic Wilson disease who fulfill the inclusion and exclusion criteria were evaluated at In-patient Department of Paediatric Neurology, during the period of January 2015 to December 2019. All study children were treated with low dose penicillamine (Cap Artamin 250 mg) rather with conventional dose penicillamine (Cap Artamin 500 mg or 20 mg/kg/day). Subsequent follow up examination was performed at 2 weeks, 1, 3 and 6 months. Follow up was done by global assessment scoring (GAS) and slit lamp examination to see the clinical improvement after treatment with low dose penicillamine therapy. Results: Total number of studied cases were 39. Mean age was 10.2 ± 3.1 year and male to female ratio was 2:1. Most of the patients (66.67%) were arrived from rural area and 20.51% children had history of consanguineous mating parents. Common presenting features were progressive deterioration of school performance (89.74%), gait disturbance (92.31%), dysarthria (92.31%) and dystonia (82.06%) of our studied children. Ophthalmological manifestations like KF ring (100%) found in all patients. Neuroimaging showed bilateral basal ganglia involvement in (63.63%) children followed by hyperintense signal changes (18.18%) and ventricular dilatation in (18.18%) of cases. Majority of the children (74.36%) were improved with low penicillamine therapy clinically and KF ring disappeared in (5.12%) cases after drug therapy on follow up. Commonest side effects were worsening of neurological symptoms in (25.64%) and rash & thrombocytopenia in (5.1%) cases after penicillamine therapy. Conclusion: About three-fourth children of studied Neurologic Wilson disease showed gradual improvement with low-dose penicillamine therapy. Moreover, one-fourth of cases experienced neurological deterioration, which was lower than previously used high dose penicillamine therapy. Therefore, low dose penicillamine may be beneficial as an initial therapy for Wilson disease with neurological manifestations.

A solitary osteolytic lesion with pathological fracture in the cervical spine - a case report

BackgroundLangerhans cell histiocytosis (LCH) is a rare disorder. The treatment options vary depending on how many organs are involved and how extensive the disease is. In this report, a case of LCH with isolated 6th cervical vertebra (C6) collapse was presented. This case was treated with anterior corpectomy and instrumented fusion, followed by local radiotherapy (RT), with a good clinical outcome up to postoperative six months.Case presentationThis was a 47-year-old female patient with a complaint of neck pain and bilateral shoulder pain for two months before consultation. She was initially treated with analgesics, but the pain was persistent. Further radiological evaluations revealed an osteolytic lesion within the C6 vertebral body with a pathological fracture. Magnetic resonance imaging (MRI) with contrast of the cervical spine revealed diffused hypointense signal changes on the T1-weighted images and hyperintense signal changes on the T2-weighted images in the C6 vertebral body, with significant contrast-enhanced infiltration signals. Furthermore, in positron emission tomography-computed tomography (PET-CT), focal hypermetabolism and abnormal uptake signals were seen only in the C6 vertebral body. The patient underwent an anterior cervical corpectomy with instrumented fusion. The histopathological results confirmed the diagnosis of LCH. The patient reported significant pain relief on postoperative day one. Moreover, she was treated by local RT at postoperative one month. Good clinical outcomes were achieved in the form of no pain and recovery in neck mobility up to postoperative six months. No evidence of recurrence was observed at the final follow-up.ConclusionsThis case report describes a treatment option for a solitary C6 collapse with LCH managed by anterior corpectomy and instrumented fusion, followed by local RT, with a good clinical outcome at postoperative six months. More studies are needed to elucidate whether such a treatment strategy is superior to surgery or RT alone.

Streaming through a case of SREAT

BackgroundHashimoto’s encephalopathy, also known as steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is an autoimmune neuroendocrine disorder marked by impaired brain function. It is a diagnosis of exclusion with variable nature of presentation and no gold standard investigation of choice.Case presentationHere, we report a case of SREAT in a 26-year-old female who presented to our Emergency Department with altered sensorium and generalised tonic clonic seizures. After thorough clinical examination and initial resuscitation, a provisional diagnosis of neuroglycopenic injury or possible encephalitis was made. Broad-spectrum antibiotics were initiated. Routine investigations and cerebrospinal fluid (CSF) study were inconclusive except for neutrophilic leucocytosis. Magnetic resonance imaging (MRI) depicted hyper-intense signal changes around bilateral hippocampus and thalamus. Serum anti-thyroid peroxidase (anti-TPO) was strongly positive while other serum and CSF autoantibodies were within normal limits. A diagnosis of SREAT was made and she responded brilliantly to systemic corticosteroids. Incidentally, anti-SSA (anti-Ro) and anti-SSB (anti-La) were positive and a possible association between Sjogren’s syndrome and SREAT was insinuated.ConclusionThere is a long list of differentials for SREAT and a proper diagnostic criteria must be followed to reach at a conclusion. It can be easily missed and remain underreported due to its overlapping nature and ambiguous presentation. Hence, clinicians must have high index of suspicion for the disease and optimal therapy should be initiated early to improve the long term mortality.

Acute Distal Rupture of the Calcaneus-Fibular Ligament Near the Calcaneus Insertion: Magnetic Resonance Imaging for Diagnostic Value and Comparison to Surgical Findings—A Retrospective Case Series Study

Distal rupture of the calcaneus-fibular ligament (CFL) was unique and important, because it is crucial to diagnose this type of injury before surgical intervention. In the present study, we collected several imaging characteristics based on MRI and tried to determine whether those clues can be used to diagnose distal rupture of CFL specifically and sensitively. Several imaging characteristics based on MRI were collected and used to diagnose and determine the location of CFL injury. All these clues on preoperative MRI were verified by operative findings and postoperative roentgenography. The interobserver agreement for the quality of the MRI images had a p value of .6 (McNemar test) and a Cohen's kappa of 65.2% (confidence interval, 50.5%-79.9%), and the agreement of the 2 observers was categorized as substantial. The sensitivity and specificity of distal rupture of CFL between 2 observers were 76.3%, 91.4% and 72.2%, 85.55%, respectively. The sensitivity and specificity of MRI clues were calculated as follows: hyperintense signal changes (86.1%, 38.6%), peroneal sheath fluid (63.9%, 74.7%), wave or laxity of the ligament (80.6%, 51.8%), fluid exudation around the ligament (80.6%, 51.8%), bone marrow edema on the calcaneus insertion (2.8%, 91.6%), avulsion fracture of the calcaneus (0%, 96.4%), incongruency or disruption of the ligament (69.4%, 77.1%), and exudation on the subtalar joint (52.8%, 71.1%). Preoperative MRI scans are a useful tool to diagnose distal injury of the CFL.

Studded Brainstem Tuberculoma Presenting with Bilateral Inter-Nuclear Ophthalmoplegia.

Sir, A 17-year-old male with a history of low-grade fever for 2 months, headache for 15 days, and diplopia and drooping of the right upper eyelid for 10 days, was admitted to our hospital. There was no history of altered sensorium, convulsion, weakness, paresthesia, weight loss, or cough. There was no history of trauma, joint pain, rash, and high-risk behavior. His general examination was normal. Nervous system examination revealed a Glasgow Coma Scale of 15, normal visual acuity with bilateral Grade 2 papilledema, bilateral restriction of adduction movement of the eyeball with ptosis of the right eye, and dilated fixed right pupil [Figure 1a]. The rest of cranial nerve examination was unremarkable. He had bilateral upper motor neuron quadriparesis with power of 4+/5 with bilateral extensor plantars. Sensory and cerebellar functions were intact. Meningeal signs were present. Rest of the systemic examination was unremarkable.Figure 1: (a) On presentation, clinical image showing right-sided ptosis with restriction of bilateral adduction. MRI brain (i-iv) showing multiple T2 hypointense/FLAIR hyperintense signal changes in midbrain with ring enhancement in gadolinium contrast along with hydrocephalus. (b) At 1 month of follow-up, clinical image showing improvement in right-sided ptosis with reduced restriction of bilateral adduction. MRI brain (i-iv) showing reduction of midbrain lesions and resolving hydrocephalus. MRI: Magnetic resonance imaging, FLAIR: Fluid-attenuated inversion recoveryHis laboratory blood parameters showed normal hemogram with normal renal, liver, and thyroid functions with normal glucose and electrolytes. Serological examination was negative for HIV, hepatitis B and C, Leptospira, and Listeria. His cerebrospinal fluid examination revealed lymphocytic pleocytosis with elevated protein level, CBNAAT negative state, negative for Gram stain, fungal stain, and culture sensitivity. Magnetic resonance imaging (MRI) brain revealed multiple coalesced ring enhancing lesions of the midbrain with extension to upper pons with hydrocephalus [Figure 1a]. He was started on standard antitubercular treatment and corticosteroid. He showed improvement clinically within 10 days in the form of partial recovery in ptosis and adduction movements of the eyeball [Figure 1b]. Headache and fever resolved within 2 weeks. MRI brain was repeated at 1 month, which showed resolving hydrocephalus and reduction in size of the brainstem tuberculomas [Figure 1b]. The entity of the brainstem tuberculoma is a rare phenomenon in tuberculosis of central nervous system with incidence of 2.5%–8%.[1] The clinical presentation of the brainstem tuberculoma is pleomorphic. The site, size, and morphology of the lesions determine this versatility of manifestation.[2] Nuclear gaze palsy, ocular motor palsy, facial palsy, bulbar palsy, ataxia, and long tract signs are some important features of brainstem involvement.[3] A multitude of etiology can have similar presentation of brainstem encephalitis including infections, autoimmune disorders, neoplastic (gliomas), and vascular. Brainstem lesions are notorious for complications in the form of hydrocephalus, respiratory insufficiency, fatal arrhythmias, and brain herniation.[4] A thorough workup and aggressive management is prudent for correct diagnosis and better outcome. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

A Novel Variant of the Short-Chain Enoyl-CoA Hydratase-1 Gene Presenting with a Mild Phenotype: The Second Case Report from India

AbstractA 9-year-old girl presented with asymmetric abnormal twisting movements affecting her left side more than the right side, initially action induced, but later persistent. Examination revealed generalized persistent dystonia with choreoathetosis and right partial tonic ocular tilt reaction. Brain magnetic resonance imaging showed T1 and T2 fluid-attenuated inversion recovery (FLAIR) hypointense and T2 hyperintense signal changes in bilateral globus pallidi. Clinical exome sequencing revealed compound heterozygous variatnts in enoyl-CoA hydratase-1 (ECHS1) gene: a novel pathogenic variant in exon 6, chr10:g.133366045G > A (p.Gln224Ter) and a likely pathogenic variant in exon 5, chr10:g.133366990G > A (p.Ala173Val). Metabolic testing and arterial lactate levels were normal. She was treated with valine restricted diet, trihexiphenidyl, clonazepam, N-acetyl cysteine and mitochondrial cocktail, without significant improvement over the 6 months follow-up period.

Shigella-associated mild encephalitis with reversible splenial lesion in Hospital Center Delafontaine, Saint-Denis, France: a case report

BackgroundMild encephalitis with reversible splenial lesion of the corpus callosum (MERS) is a clinical/radiological syndrome characterized by hyperintense signal changes in the splenium of the corpus callosum visible on diffusion weighted imaging (DWI) in the brain Magnetic Resonance Imaging (MRI) associated with various neurological symptoms. Progression is usually favorable with disappearance of the MRI brain lesion and regression of clinical symptoms over a few days to a few weeks. The exact pathophysiology remains unclear. MERS can be associated with various pathogens.Case presentationWe report here a paediatric case of MERS associated with Shigella flexneri infection. A five-year-old boy with no relevant past medical history presented with symptoms such as headache, fever, profuse diarrhea and hallucinations.A brain Magnetic Resonance Imaging performed on Day 2 of the symptoms revealed hyperintense signal changes of the splenium of the corpus callosum in T2 FLAIR sequence. This infection had a favorable outcome after antibiotic therapy. No further recurrence of symptoms was observed and a follow-up clinical examination eight weeks later was normal. A follow-up brain Magnetic Resonance Imaging three months after discharge was also normal and the hyperintense signal changes of the splenium of the corpus callosum had disappeared completely.ConclusionsMERS is a clinical/radiological syndrome with a generally good prognosis.We believe that this is the first description of a case of Shigella-associated MERS.It is useful to know about this condition to help distinguish it from acute disseminated encephalomyelitis.

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.

Background and PurposeInfantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical phenotypes of neurodegeneration. Individuals affected with INAD are characterized by rapid progressive psychomotor deterioration, neuroregression, and hypotonia followed by generalized spasticity, optic atrophy, and dementia. In this case, we aimed to identify the underlying causative genetic factors of a Chinese family with two siblings who presented with walking difficulty and inability to speak. We provided a prenatal diagnosis for the family and information for the prevention of this genetic disease.MethodsRetrospective clinical information and magnetic resonance imaging (MRI) findings of the proband were collected. Trio-whole exome sequencing (WES) including the proband and his parents was performed to explore the genetic causes, while Sanger sequencing was subsequently used to validate the variants identified by Trio-WES in the pedigree. Furthermore, prenatal molecular genetic diagnosis was carried out through amniocentesis to investigate the status of pathogenic mutations in the fetus by Sanger sequencing at an appropriate gestational age.ResultsThe two siblings were both clinically diagnosed with rapid regression in psychomotor development milestones. Brain MRI showed cerebellar atrophy and typical bilaterally symmetrical T2/FLAIR hyperintense signal changes in periventricular areas, indicating periventricular leukomalacia, and myelin sheath dysplasia. Trio-WES revealed two heterozygous variants in PlA2G6 associated with clinical manifestations in the proband: a novel maternally inherited variant c.217C>T (p.Gln73*) and a previously reported paternally inherited recurrent pathogenic variant c.1894C>T (p.Arg632Trp). These two heterozygous mutations were also detected in the younger brother who had similar clinical features as the proband. The novel variant c.217C>T was classified as “pathogenic (PVS1 + PM2 + PP3),” while the variant c.1894C>T was “pathogenic” (PS1 + PM1 + PM2 + PM3 + PP3) based on the latest American College of Medical Genetics and Genomics (ACMG) guidelines on sequence variants. Combining the molecular evidence and clinical phenotypes, the diagnosis of INAD was established for the two affected siblings. The two variants that were identified were considered the causative mutations for INAD in this family. Prenatal diagnosis suggested compound heterozygous mutations of c.217C>T and c.1894C>T in the fetus, indicating a high risk of INAD, and the parents chose to terminate the pregnancy.ConclusionWe identified a novel pathogenic mutation that broadens the mutation spectrum of PLA2G6 and will provide clues for the molecular diagnosis of INAD. Furthermore, our study has helped to elucidate the causative genetic factors of this Chinese family with INAD effectively and efficiently by using the emerging Trio-WES strategy and providing precise genetic counseling for this family.

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural history of this disease, we reviewed the biochemical, clinical, and molecular data of 62 patients from 54 different families with confirmed HMG-CoA lyase deficiency (HMGCLD) diagnosis from Saudi Arabia. The majority of the affected individuals were symptomatic. At initial diagnosis, 38 patients (61.29%) presented with hypoglycemia and 49 patients (79.03%) developed metabolic acidosis. In 27 patients (43.54%), the disorder manifested in the neonatal period, mostly within the first days of life, while 35 (56.45%) patients were diagnosed within the first year of life or beyond. All the patients were alive and developed long-term neurological complications during data collection, which may significantly influence their quality of life. Common neurological findings include seizures 17/62 (27.41%), hypotonic 3/62 (4.83%), speech delay 7/62 (11.29%), hyperactivity 4/62 (4.83%), developmental delay 6/62 (9.677%), learning disability 15/62 (24.14%), and ataxic gate 1/62 (1.612%). An MRI of the brain exhibited nonspecific periventricular and deep white matter hyperintense signal changes in 16 patients (25.80%) and cerebral atrophy was found in one (1/62; 1.612%) patient. We identified a founder variant [c.122G>A; p.(Arg41Gln)] in 48 affected individuals (77.41%) in the HMGCL gene. This is the largest cohort of HMGCLD patients reported from Saudi Arabia, signifying this disorder as a likely life-threatening disease, with a high prevalence in the region. Our findings suggest that diagnosis at an early stage with careful dietary management may avoid metabolic crises.

P067 Covid- 19 infection as a trigger for immune inflammatory myositis

Abstract Background/Aims Increasing experience in managing patients with COVID-19 infection has demonstrated the development of autoimmune phenomena following infection. We describe a patient with preceding COVID-19 infection who presented with inflammatory immune myositis, positive myositis antibodies and a normal creatine kinase. Methods N/A Results A 61-year-old Caucasian female presented feeling generally unwell and with weakness. She had COVID-19 infection 4 months prior, which necessitated admission to the Intensive Care Unit (ITU), treatment with dexamethasone and oxygen and subsequent discharge with home continuous positive airway pressure (CPAP). Other co-morbidities included atrial fibrillation, chronic kidney disease stage three, hypertension, obesity, recent pulmonary embolism, obstructive sleep apnoea, chronic lymphoedema and hypercholesterolaemia on atorvastatin. Her mobility had been gradually reducing over the previous months to now requiring a wheelchair. Neurological examination demonstrated bilateral proximal lower limb weakness, power 3/5 and an unsafe swallow, for which a naso-gastric tube was inserted. A non-specific erythematous pruritic rash was noted on the arms. Full body Computerised tomography (CT) and Magnetic Resonance Imaging (MRI) of the brain and spine were unremarkable. Creatinine kinase (CK) was within normal limits at 81, and C-reactive protein (CRP) was mildly raised at 36. C3 was low at 0.67 and C4 low at 0.03. Cryoglobulins were not detected. She was positive for antinuclear antibody (ANA) (1:320 titre), Ro-52, PM-Scl75, and anti-La. Anti-dsDNA was negative. Electromyography could not be performed due to the presence of chronic lymphoedema. MRI showed symmetrical STIR hyperintense signal changes in the quadriceps muscles bilaterally. A muscle biopsy showed a small focus of mild lymphocyte infiltration in the endomysial connective tissue, mild increase in acid phosphatase expression in many fibres in dotlike pattern, overexpression of HLA-ABC with deposits of complement found in in endomysial capillaries, consistent with a diagnosis of inflammatory myopathy. Following commenced of 60 mg prednisolone daily, there was a marked improvement in swallowing and the NG tube was removed. A positron emission tomography (PET) scan showed non-specific marrow, splenic and adrenal hyperplasia. The patient was then started on mycophenolate mofetil (MMF), but was switched to azathioprine due to side effects. On review following discharge, the patient continues to require a wheelchair to mobilise, but there has been improvement in her swallow and she reports feeling better within herself. Conclusion Inflammatory myositis is a rare sequela of COVID-19 infection. The development of myositis-specific antibodies post infection has previously been described. This case highlights the significant dysphagia and debility despite a normal CK and the need for a high index of suspicion. Possible triggers of an inflammatory response predisposing to autoimmune phenomena include molecular mimicry, bystander activation, exposure of previously hidden epitopes to activated T cells, activation of Toll-like receptors and activation of the complement system. Disclosure G. Bartminski: None. A. Vijayan: None. K. Beharry: None. D. De Lord: None.

Evaluation of Surgical Cleavage Plane by Preoperative Magnetic Resonance Imaging Findings in Adult Intracranial Meningiomas.

(1) Background: Meningiomas are usually benign encapsulated intracranial tumors with well-defined borders that offer a high chance of cure with complete removal. The aim of this study was to evaluate the association between preoperative MRI features and surgical plane of cleavage. (2) Materials and Methods: This was a cross-sectional observational study conducted in the Department of Neurosurgery, Bangabandhu Sheikh Mujib Medical University. Data were recorded from 48 study participants with confirmed intracranial meningioma and analyzed by IBM SPSS (version 23). (3) Results: The highest incidence of intracranial meningioma was observed in the third decade of life of our study participants. The female to male ratio was 1.82:1. The most common location of meningiomas was convexity (29.16%), sphenoid wing (22.91%), parasagittal (20.83%), and falcine (14.58%). Most of the patients (68.8%) had medium-sized tumors, and 75.0% exhibited hyperintense signal change in the tumor parenchyma on T2-weighted imaging. One-third (33.3%) of patients were characterized as no edema, focal edema, and lobar/hemispheric edema. There was no statistically significant association between tumor size and types of surgical cleavage plane. Different signal intensities of tumor parenchyma, as well as types of peritumoral edema, showed no statistically significant association with surgical cleavage plane (p > 0.05). (4) Conclusion: There was no association among the size of the tumor, extent of peritumoral edema, the intensity of the tumor on T2-weighted images, and the types of surgical cleavage plane. Future studies with larger sample sizes are required to find out more precise findings.

Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type.

Transient receptor potential vanilloid 4 channel ( TRPV4 ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs and urine incontinence for 1 year following falls. Physical examination showed below-average weight and height and short trunk. Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes. Skeletal survey showed platyspondyly with anterior beaking with metaphyseal dysplasia. Magnetic resonance imaging of the spine revealed atlantoaxial instability with hyperintense signal changes at a cervicomedullary junction and upper cervical cord with thinning and spinal canal stenosis suggestive of compressive myelopathy with platyspondyly and anterior beaking of the spine at cervical, thoracic and lumbar vertebrae. Exome sequencing revealed a heterozygous de novo variant c.2389G > A in exon 15 of TRPV4 , which results in the amino acid substitution p.Glu797Lys in the encoded protein. The characteristics observed indicated spondylometaphyseal dysplasia, Kozlowski type (SMD-K). The child underwent surgical intervention for compressive myelopathy by reduction of atlantoaxial dislocation with C1 lateral mass and C2 pars fusion using rib graft and fixation using screws and rods. To conclude, for any child presenting with progressive kyphoscoliosis, short stature, platyspondyly, and metaphyseal changes, a diagnosis of SMD-K should be considered and the patient and family should be advised to avoid spinal injuries.

Clinical and Neuroimaging Changes of Subacute Sclerosing Panencephalitis – Experience 30 Cases in Tertiary Care Center in Bangladesh

Background: Subacute sclersing panencephalitis (SSPE) is a very rare progressive, fatal neurodegenerative disease of the control nervous system of childhood and early adolescence. It is a slow virus disease caused by persistent defective measles virus infection of the brain
 Objective: To see the clinical andneuro-imaging findings in children with Subacute sclerosing panencephalitis.
 Methods: This retrospective study was conducted at Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, a tertiary care premier Postgraduate Medical Institution in Bangladesh. Thirty (30) Subacute sclerosing panencephalitis (SSPE) children were evaluated at paediatric neurology ward during the period January 2010 to December 2017. Diagnosis was based on typical clinical characteristic features, the presence of periodic discharges on EEG, demonstration of raised antibody titer against measles in the plasma and cerebrospinal fluid Detected by ELISA in all patients.
 Results: Total number of studied children were 30. Mean age was 10.2±3.1 year and Male female ratio was 5:1. Most of the patient arrived from poor socio-economic (83.33%) background of rural area (66.67%) of Bangladesh. Among them 46.67% had history of measles infection during early childhood. Progressive deterioration of school performance (50%), gait disturbance (70%), myoclonus (83%) dysarthria (43%) and Ocular manifestations like optic atrophy & papilledema (83.33%) were the main presenting feature of our studied children. All of the patients (100%) showed positive measles specific antibody IgG in CSF and On electroencephalographic findings showed periodic burst suppression in 90.90% cases. Most of the children (56.6%) were in stage II category and other 3.3%, 33.3%,6.6%, were stage I, stage III, stage IV category respectively. Neuroimaging study showed abnormalities in 45.83% cases included periventricular white matter hyper intense signal changes, cortical atrophy and ischaemic change.
 Conclusion: In our study most of the SSPE patient were in stage II.About half of the patient had history of measles infection during early childhood. Neuroimaging abnormalities found in about half of the cases and majority cases were in stage II. Common neuroimaging abnormalities were periventricular white matter hyper intense signal changes and cortical atrophy.

Surgical management of cavernous sinus mucormycosis through minipterional approach

Rhino-cerebral mucormycosis is a rare fulminant fungal infection, that mostly occurs in individuals with committed immunity. The delay caused by late occurrence of cerebral manifestations led to poor prognosis. The treatment involves aggressive surgical therapy, with repeated debridement, in combination with intravenous anti-fungic therapy. We describe a case of microsurgical resection of rhino-cerebral mucormycosis with cavernous sinus extension and internal carotid thrombosis. Informed written consent was obtained from the patient. A 41-year-old patient, with diabetes mellitus was admitted at a nearby hospital for frontal headache and nasal congestion.Computed tomography scan showed diffuse sinusitis. Endoscopic endonasal debridement of the paranasal sinuses was performed. Patient was then transferred to our institution. After one day of treatment, patient developed left sided hemiplegia and worsening of periorbital swelling. Magnetic resonance image depicted hyperintense signal changes in the right orbit, ethmoidal and maxillary sinus, partial thrombosis of the right cavernous sinus and internal carotid artery, and right fronto-parietal ischemia.Debridement of the ethmoidal, maxilla and sphenoidal sinus, associated with right eye enucleation were performed. Histopathological examination revealed the presence of mucormycosis. Serial MRI imaging studies after day 40 showed increased extension of inflammatory changes in the right cavernous sinus and increased mass in the right trigeminal nerve, thrombosis of the right internal carotid artery and subacute cerebral infarcts. Because of the persistence of the infection the patient underwent extradural and subdural microsurgery resection of mucormycosis collection in the right cavernous sinus. During the follow-up she gradually improved and was discharged on an ambulatorial regimen.

COVID-19-associated meningoencephalitis: A care report and literature review.

Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may target the central nervous system and several neurological symptoms have been reported in patients with coronavirus disease 2019 (COVID-19). In the present study, a case of a SARS-CoV-2 complicated with meningoencephalitis was reported. Cerebrospinal fluid (CSF) analyses indicated hyperproteinorrachia but the specimen was negative for SARS-CoV-2 RNA. Furthermore, 10 published articles reporting on patients with COVID-19-associated meningitis/encephalitis were reviewed. Patients diagnosed with COVID-19-associated meningitis/encephalitis had diverse clinical neurological manifestations, including consciousness disturbance, epileptic attacks, psychotic syndrome and meningeal irritation signs. CSF tests revealed elevated protein, lymphocytes and cytokines. SARS-CoV-2 may be detected in the CSF of certain cases. Neuroimaging findings included hyperintense signal changes in the white matter and enhancement of meninges on brain MRI. Certain patients responded well to corticosteroid therapy and had a favorable prognosis, while elderly patients tended to have poor outcomes due to multiple organ dysfunction.

Hallucinatory Palinopsia in COVID-19-Induced Posterior Reversible Encephalopathy Syndrome.

Hallucinatory Palinopsia in COVID-19-Induced Posterior Reversible Encephalopathy Syndrome.

Bilateral sakroileiti taklit eden multiple yetmezlik kırığı

The aim of this case report was to represent a case with multiple insufficiency fractures detected in an elderly female patient who was referred to our clinic for the differential diagnosis of bilateral sacroiliitis. A 71-year-old female patient was admitted to our outpatient clinic with the complaint of low back pain and also pain in her both hips and groin. On assessment of her musculoskeletal system, she had limited range of motion for low back and also had bilateral painful hip rotations. Bilateral Faber, Mennel and sacroiliac compression tests were positive. In her laboratory examination, 25-hydroxy-Dvit level was 3 ng/ml and parathormone level was 70 pg/ml. In consistent with physical examination pelvic radiograph revealed bilateral subchondral sclerosis in the sacroiliac joint, narrowing in the coxafemoral joint space, irregularity in symphisis pubis. Sacroiliac magnetic resonance imaging showed diffuse hypointense signal on T1-weighted images and hyperintense signal change on STIR images in the periarticular surfaces of bilateral sacroiliac joints and also fracture lines were detected on T1-weighted images. Subsequently, multiple insufficiency fracture lines were detected on the anterior face of the sacrum, bilateral iliac bones and the pubic ramus on the sacroiliac computed tomography. The patient was diagnosed with multiple insufficiency fractures due to vitamin D deficiency. Vitamin D was replaced and conservative treatment was planned. In conclusion, insufficiency fractures should be considered in differential diagnosis in elderly patients who present with low back pain and who have joint changes that may mimic sacroiliitis in imaging.

Extent of Hyperostotic Bone Resection in Convexity Meningioma to Achieve Pathologically Free Margins.

ObjectiveHyperostosis in meningiomas can be present in 4.5% to 44% of cases. Radical resection should include aggressive removal of invaded bone. It is not clear however to what extent bone removal should be carried to achieve pathologically free margins, especially that in many cases, there is a T2 hyperintense signal that extends beyond the hyperostotic bone. In this study we try to investigate the perimeter of tumour cells outside the visible nidus of hyperostotic bone and to what extent they are present outside this nidus. This would serve as an initial step for setting guidelines on dealing with hyperostosis in meningioma surgery. MethodsThis is a prospective case series that included 14 patients with convexity meningiomas and hyperostosis during the period from March 2017 to August 2018 in two university hospitals. Patients demographics, clinical, imaging characteristics, intraoperative and postoperative data were collected and analysed. In all cases, all visible abnormal bone was excised bearing in mind to also include the hyperintense diploe in magnetic resonance imaging (MRI) T2 weighted images after careful preoperative assessment. To examine bony tumour invasion, five marked bone biopsies were taken from the craniotomy flap for histopathological examinations. These include one from the centre of hyperostotic nidus and the other four from the corners at a 2-cm distance from the margin of the nidus. ResultsOur study included five males (35.7%) and nine females (64.3%) with a mean age of 43.75 years (33-55). Tumor site was parietal in seven cases (50%), fronto-parietal in three cases (21.4%), parieto-occipital in two cases (14.2%), frontal region in one case and bicoronal (midline) in one case. Tumour pathology revealed a World Health Organization (WHO) grade I in seven cases (50%), atypical meningioma (WHO II) in five cases (35.7%) and anaplastic meningioma (WHO III) in two cases (14.2%). In all grade I and II meningiomas, bone biopsies harvested from the nidus revealed infiltration with tumour cells while all other bone biopsies from the four corners (2 cm from nidus) were free. In cases of anaplastic meningiomas, all five biopsies were positive for tumour cells. ConclusionRemoval of the gross epicentre of hyperostotic bone with the surrounding 2 cm is adequate to ensure radical excision and free bone margins in grade I and II meningiomas. Hyperintense signal change in MRI T2 weighted images, even beyond visible hypersototic areas, doesn’t necessarily represent tumour invasion.