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Carotid artery stenting (CAS) is performed in patients with minor strokes and transient ischemic attacks (TIAs) to prevent further strokes. However, most operators do not intervene in older adults. We had a 92-year patient with recurrent minor strokes with two possible proximate causes – cardioembolism and significant symptomatic left carotid stenosis. This patient continued to have recurrent ischemic events in the left carotid territory despite optimum management of the cardioembolic source with dual antiplatelets and anticoagulation and was successfully treated with left CAS. The role of carotid revascularization in older patients with high-grade symptomatic carotid stenosis and cardiac comorbidities is discussed. [ABSTRACT FROM AUTHOR]

Background: Solitary cysticercus granuloma (SCG) appearing as a single ring-enhancing lesion (SREL) is the most frequently encountered imaging finding in patients of neurocysticercosis (NCC) in India and during follow-up, most of SCGs resolve with or without calcifications. Recurrent SCG have been rarely reported.Objectives: The aim of our study is to report the incidence of recurrent SCG in a cohort of patients with SCG and postulate the hypothesis.Materials and Methods: This retrospective study included 278 patients with SCG meeting the criteria of NCC. Their medical records and imaging studies were analyzed.Results: Out of 278 patients, 119 patients with SCG meeting the criteria of NCC with follow-up imaging were included. 15 (12.61%) had recurrent NCC and 104 (87.4%) patients did not have any recurrence during a median follow-up of 14.23 months (range; 0.24 - 113.3) and 25.26 months (range; 3.09- 98.11) respectively. Out of 15 recurrent NCC cases, ten patients had documented imaging resolution or partial regression of previous lesion followed by occurrence of new SCG in the same location, three patients had change in morphology of lesion from solitary discrete REL to solitary conglomerate REL secondary to development of new cysticercus granuloma adjacent to old lesion patients had recurrent lesions adjacent to previous lesion and two patients had new SCG in different locations following regression of old SCGs.Conclusion: Recurrent SCGs are not uncommon in NCC and recurrence is more likely to occur at the site of initial infection and therefore may be mistaken for persistent infection or other granulomatous lesions. [ABSTRACT FROM AUTHOR]

Malignant neuroectodermal tumor of infancy is a rare neural crest cell-derived neoplasm of infants. Histologically, melanotic neuroectodermal tumor of infancy usually consists of 2 types of cells: neuroblast-like and melanocyte-like cells. Here we present a rare case of melanotic neuroectodermal tumor of infancy containing a third type of cell population, that is, rhabdomyoblasts in addition to the above two. We report a case of a 10-month-old female child who was brought to us with complaints of swelling over the right forehead for the last 9 months, which started increasing in size rapidly 3 months before presenting to us. Noncontrast computed tomography scan showed a large well-defined extra-axial lesion in the right frontotemporal region. The child underwent an open biopsy under general anesthesia. Histopathological sections showed a malignant small round cell tumor consisting of hyperchromatic cells lying in sheets and lobules separated by fibrous septae. The patient underwent 7 cycles of neoadjuvant chemotherapy over a period of 2 months. The patient underwent right frontotemporal craniotomy and gross total excision of the lesion as a definitive surgery. Postoperatively, the patient was stable, and there was no new deficit. Histopathology revealed neuroblast-like and melanocyte-like cells with rhabdomyosarcomatous differentiation. The patient received chemotherapy in the postoperative period. The patient had recurrence of the tumor and died 8 months after the surgery. Calvarial malignant neuroectodermal tumor of infancy with rhabdomyosarcomatous differentiation is a rare entity with no cases being reported before. Neoadjuvant chemotherapy with surgical excision can be a promising modality of treatment. [ABSTRACT FROM AUTHOR]

A case study of a 50‑year‑old lady presented to the emergency with one day history of multiple simple partial seizures involving right arm and face without any motor deficit or loss of consciousness. Topics include neoplastic etiology was suspected and anti‑edema medicines including steroids, anti-epileptic drugs and other supportive measures; and contrast‑enhanced imaging revealed a well‑defined multi‑lobulated lesion in subcortical white matter of left posterior frontal region.

Background and Purpose: Differentiating between neurocysticercosis (NCC) and neurotuberculosis has serious therapeutic implications and this distinction relies heavily on neuroimaging. Few case reports discuss the conglomeration of ring-enhancing lesions (RELs) in patients with solitary NCC. The aim of our study is to describe the imaging findings of conglomerate RELs in a cohort of patients with solitary NCC, emphasizing the frequency of conglomeration. Materials and Methods: This retrospective study included 100 patients with solitary NCC. Two neuroradiologists analyzed contrast-enhanced computed tomography (CT) images regarding morphology, enhancement pattern, location, number of lesions, and degree of perilesional edema. The solitary lesions were classified as solitary discrete RELs (SD-RELs) when a well-defined lesion was seen and solitary conglomerate RELs (SC-RELs) when two or more ring lesions or ring/rings plus disc lesions were present contiguously. Follow-up CT scans were evaluated for the resolution of lesions and surrounding edema. Results: Out of 100 patients, 42 were SD-RELs and 58 were SC-RELs. No statistically significant difference was found between both groups in terms of age of presentation, clinical presentation, lesion size and location, and degree of perilesional edema. Larger lesions (>10 mm) were more likely to show scolex and were associated with greater degree of edema in both subgroups. During follow-up, 13 patients had new lesions (SD-RELs-5, SC-RELs-8). In SD-RELs, follow-up lesions were in the same location in four patients and new location in one; and in SC-RELs, lesions were in the same location in seven and in new location in one case. Conclusion: Conglomeration of RELs is a common finding in patients with solitary NCC. [ABSTRACT FROM AUTHOR]

Objective: Resection of large Vestibular Schwannomas (VSs) can be associated with postoperative facial nerve injury. Diffusion-based tractography has emerged as a powerful tool for three-dimensional imaging and reconstruction of white matter fibers; however, tractography of the cranial nerves has not been well studied. In this prospective study, we aim to predict the position of facial nerve in large VSs (>3 cm) using Diffusion Tensor Imaging (DTI) tractography and correlate it with the intraoperative finding of the position of facial nerve.Materials and Methods: Twenty patients with a large VS (>3 cm) undergoing surgery were subjected to preoperative DTI to predict the position of the facial nerve in relation to the tumor. The surgeon was blinded to the results of the preoperative DTI tractography. A comparative analysis was then made during operation. The location of the facial nerve in relation to the tumor was recorded during surgery using facial nerve stimulator.Results: Of the 20 patients who underwent DTI tractography, it was not possible to preoperatively identify facial nerve in one patient. In another patient, although DTI tractography predicted the position of facial nerve, it was not identified intraoperatively. In the remaining 18 patients, DTI tractography accurately predicted the facial nerve position. The predicted position was in synchronization with the intraoperative facial nerve position in 16 patients (89% concordance). It was discordant in two patients (11%), but this was not found to be statistically significant (P = -0.3679).Conclusion: This study validates the reliability of facial nerve DTI-based fiber tracking for prediction of the facial nerve position in patients with large VSs. The reliable preoperative visualization of facial nerve location in relation to the VS will allow surgeons to plan tumor removal accordingly and may increase the safety of surgery. [ABSTRACT FROM AUTHOR]

This article, published in Neurology India, discusses a rare case of craniovertebral junction tuberculosis (TB) in a 14-year-old child. The child presented with neck pain, fever, and anorexia, and was diagnosed with atlantoaxial dislocation (AAD) due to TB. The patient was initially recommended surgery, but due to the COVID-19 pandemic, surgical intervention was delayed. After one year of treatment with anti-tuberculosis drugs, the patient showed resolution of the infection and fusion of the C1-C2 vertebrae. The article includes images and emphasizes the importance of early diagnosis and treatment of CVJ TB. [Extracted from the article]

The article describes the case of a 31-year-old woman who presented with altered mental status for three days. Cited are the medial history of the patient, the findings of physical and laboratory examinations which led to the diagnosis of osmotic demyelination syndrome (ODS) with both central and extrapontine myelinolysis, and several atypical radiological features that were noted in the patient.

Neurosarcoidosis (NS) is a protean illness with multiple clinical and radiological presentations giving it the moniker of "a chameleon" or the great mimic. NS can present as a wide spectrum of neurological syndromes localizing both to the central and peripheral nervous systems. The absence of a diagnostic serum test makes it difficult to diagnose with certainty and remains largely a histopathological diagnosis and one of exclusion. A high index of suspicion should be there in suspecting NS, and it should always be excluded among patients presenting with acute to subacute neurological deficits. [ABSTRACT FROM AUTHOR]

This study analyses the risk-taking propensity of male and female entrepreneurs. Primary data were collected from a sample of 400 randomly selected from among the small and medium scale entrepreneurs in Roodepoort and two structured questionnaires were used. The results showed the existence of differences among male and female entrepreneurs' risk-taking perceptions. However, no significant differences in the mean scores between males and females in the financial and social domains of risk taking perception were found. The results further indicate that there is a significant difference in the means of the entrepreneurs with regard to their overall risk-taking perception in the ethical domain of risk-taking perception, health and safety risk-taking perception, recreational risk-taking perception as well as their business performance perceptions. The study also suggests that there is no correlation between business performance and risk-taking in entrepreneurs. The study highlights that there is no evidence to suggest that risk-taking in different genders plays a role as an indicator in business performance. [ABSTRACT FROM AUTHOR]

Astrocytomas of Conus-Cauda equina region are rare. Astrocytomas, which are intramedullary tumors, may rarely have an extramedullary component. However, primary intradural extramedullary astrocytomas are extremely rare, with very few cases reported in the literature. We describe a giant extramedullary pilocytic astrocytoma of Cauda equina in a 20-year-old male. To the best of our knowledge, this is the first report of such a case in the available literature. This case highlights the fact that astrocytomas can be primarily extramedullary and emphasizes the need to consider pilocytic astrocytoma in the differential diagnosis of cystic Cauda equina tumors. [ABSTRACT FROM AUTHOR]

Keywords: anti-Zic4; ataxia; magnetic resonance imaging EN anti-Zic4 ataxia magnetic resonance imaging 1128 1131 4 11/07/22 20221101 NES 221101 Imaging characteristics of paraneoplastic neurological syndromes frequently mimic common pathologies like infections or demyelinating disorders (primary/secondary). A combination of these MRI findings can be a marker for anti-Zic4 associated neurological disorder. Salt and Pepper Appearance of Brain-Stem and Cerebellum in Anti-Zic4 Associated Neurological Disorder. [Extracted from the article]

The udder of crossbred cows was screened by CMT for the detection of sub-clinical and clinical mastitis and bacteria incidence was determined. The milk samples were tested for the bacteria type and milk compositional changes viz., chloride, lactose, EC, pH and somatic cell count (SCC) was determined. Four types of bacteria incidence namely S. aureus, S. aglactiae, E. coli, E. faecalis was characterized with incidence of 30, 30, 30 and 10, and 30, 30, 10 and 20 per cent in sub-clinical and clinical milk samples. SCC varied between pathogen (P<0.05) and was significantly higher in subclinical milk samples having E. faecalis without any effect on pH and EC. However, pH, EC, Chloride and SCC in clinical mastitis samples was significantly more. It was concluded that four types of bacterial incidence occur in subclinical and clinical mastitis but their per cent incidence varied. The histo-pathological examination of clinically affected quarter indicated more tissue changes by S. agalactiae in comparison to S. aureus. [ABSTRACT FROM AUTHOR]

The article reports on the general education courses (GEC) at the University of Botswana in Botswana. The article noted that under the GEC, the university teaches competence in communication skills, IT and information skills literacy, gender, HIV/AIDS, the environment, energy, and globalization issues. The GECs fall under seven theme areas such as communication and study skills; computer and information skills; modes of inquiry and critical thinking; physical education, health, and wellness; science and technology; world civilization; and world economy and business skills.

This study applied the Theory of Reasoned Action and the Technology Acceptance Model to measure outcomes of general education courses under the University of Botswana Computer and Information Skills program. An exploratory model was validated for responses from 298 students. The results have implications for course design and resource utilization. [ABSTRACT FROM AUTHOR]

Abstract: Background: Deposition of CPPD crystals occurs in the fibrous and hyaline cartilage of the joints and intervertebral disks of the spine. Half of patients known to have chondrocalcinosis had asymptomatic calcification in the odontoid region. The cases of 12 patients with a spinal cord syndrome secondary to CPPD deposition in the odontoid region were published in the literature. In all those cases, the mass lesion was extradural in location with good outcome after surgical decompression via the transoral route. Case Description: We report on a rare case of large periodontoid CPPD deposition causing cervicomedullary compression, erosion of the overlying bone, and underlying dura with intradural extension and vertebral artery encasement. Conclusions: Calcium pyrophosphate dihydrate is a rare cause of cervicomedullary compression. Intradural extension of periodontoid CPPD has not been reported on. [Copyright &y& Elsevier]

Closed-form formulations of two-dimensional (2D) higher-order shear deformation theories (HOSTs) for the free vibration analysis of simply supported cross-ply laminated composite and sandwich doubly curved shells are presented. The formulation includes the Sander's theory for doubly curved shells. Two of the HOSTs account for the effects of both transverse shear strains/stresses and the transverse normal strain/stress, while the third includes only the effects of transverse shear deformation. In these developments a realistic parabolic distribution of transverse shear strains through the shell thickness is assumed. The equations of motion are obtained using Hamilton's principle. Solutions are obtained in closed-form using Navier's technique and by solving the eigenvalue equations. Numerical results are presented for the natural frequencies of laminated composite and sandwich shallow shells. The closed-form solutions presented herein for laminated composite plates and shells are compared with the available 3D elasticity and analytical solutions and it is believed that the solutions for sandwich laminates using various higher-order displacement models will serve as benchmark in future. [ABSTRACT FROM AUTHOR]

Closed-form formulations of 2-D higher-order shear deformation theories (HOSTs) for the free vibration analysis of simply supported cross-ply laminated composite and sandwich doubly curved shells are presented. The formulation includes the Sanders theory for doubly curved shells. Two of the HOSTs account for the effects of both transverse shear strains/stresses and the transverse normal strain/stress, while the third includes only the effects of transverse shear deformation. In these developments, a realistic parabolic distribution of transverse shear strains through the shell thickness is assumed. The equations of motion are obtained using Hamilton's principle. Solutions are obtained in closed-form using Navier's technique and by solving the eigenvalue equations. Numerical results are presented for the natural frequencies of laminated composite and sandwich shallow shells. The closed-form solutions presented herein for laminated composite plates and shells are compared with the available 3-D elasticity and analytical solutions and it is believed that the solutions for sandwich laminates using various higher-order displacement models will serve as the benchmark in future. [ABSTRACT FROM AUTHOR]

A simple C° isoparametric finite element model, based on a higher-order shear deformation theory is presented for the free vibration analysis of isotropic, orthotropic, and layered anisotropic composite and sandwich skew laminates. This theory incorporates a realistic nonlinear variation of displacements through the laminate thickness, and eliminates the use of shear correction coefficients. The boundary conditions on the skew edges are imposed through the suitable transformation of element matrices. The accuracy of the present model is demonstrated by comparing with alternative solutions available in the literature. Extensive numerical results are presented for natural frequencies of cross-ply and angle-ply skew laminates with various lamination parameters, skew angles, boundary conditions, and width-to-thickness ratios. New results on skew sandwiches are obtained for different lamination parameters and skew angles. [ABSTRACT FROM AUTHOR]

Abstract: Ewing''s sarcomas (ES) account for approximately 10% of primary malignant bone tumors. Primary Ewing''s sarcoma of the skull is a very rare entity. We report a case of Ewing''s sarcoma of the sphenoid bone in a 5-year-old boy. CT scan showed heterogeneously enhancing mass with associated spiculated new bone formation along the posterolateral wall of the orbit. Magnetic resonance (MR) imaging showed markedly heterogeneously signal intensity mass lesion containing areas of hemorrhage and fluid–fluid levels. Spiculated new bone formation and fluid–fluid levels had not been reported previously in skull Ewing''s sarcomas and may be helpful features for preoperative diagnosis. [Copyright &y& Elsevier]

Two higher-order shear deformable finite element models using a higher-order facet shell element are presented for the free vibration analysis of layered anisotropic sandwich laminates. One of the higher-order shear deformation models accounts for the effects of both transverse shear strains/stresses and the transverse normal strain/stress, while the other includes only the effects of the transverse shear deformation. The accuracy of the present models is demonstrated by comparing the results of laminated sandwich plates with the available closed- form solutions. Benchmark solutions with the parametric study for the laminated sandwich cylindrical and spherical shell panels are also presented. [ABSTRACT FROM AUTHOR]

Study Design: A case report of rheumatoid arthritis involving cervical spine, who presented with multiple posterior circulation infarcts, and pertinent literature review are presented.Objective: To describe a rare positional occlusion/stasis of vertebral arteries, which resolved following application of cervical traction. The likely mechanism of above findings is proposed.Summary Of Background Data: The mechanism of vertebrobasilar insufficiency with changes in head position in patients with rheumatoid arthritis can result from a number of causes; however, bilateral compromise of vertebral arteries during head extension had been described only once. There is no report of vertebral artery angiogram in any individual following application of traction and relief of compromise in extension.Methods: A 45-year-old man had rheumatoid arthritis for the last 10 years and presented with symptoms of posterior circulation infarcts. Cervical spine radiographs revealed "mobile" atlantoaxial dislocation and atlantoaxial impaction. Magnetic resonance imaging confirmed odontoid erosions, lateral masses destruction, atlantoaxial dislocation, and atlantoaxial impaction. Angiogram showed occlusion of the left vertebral artery and transient stasis of the right vertebral artery distal to foramen transversarium of C2 vertebra in extension position. The left vertebral artery had narrowing in the same segment in the neutral position. Following traction, repeat angiogram showed no occlusion or narrowing of either vertebral artery in any position. Transoral odontoidectomy and occipitocervical fusion were performed.Results: The patient had no fresh deficits following surgery.Conclusions: We described a rare case of positional occlusion/stasis of vertebral arteries associated with rheumatoid arthritis, in which angiography following cervical traction showed complete resolution. [ABSTRACT FROM AUTHOR]

Trehalose is a nonreducing disaccharide of glucose that functions as a compatible solute in the stabilization of biological structures under abiotic stress in bacteria, fungi, and invertebrates. With the notable exception of the desiccation-tolerant "resurrection plants," trehalose is not thought to accumulate to detectable levels in most plants. We report here the regulated overexpression of Escherichia coil trehalose biosynthetic genes (otsA and otsB) as a fusion gene for manipulating abiotic stress tolerance in rice. The fusion gene has the advantages of necessitating only a single transformation event and a higher net catalytic efficiency for trehalose formation. The expression of the transgene was under the control of either tissue-specific or stress-dependent promoters. Compared with nontransgenic rice, several independent transgenic lines exhibited sustained plant growth, less photo-oxidative damage, and more favorable mineral balance under salt, drought, and low-temperature stress conditions. Depending on growth conditions, the transgenic rice plants accumulate trehalose at levels 3-10 times that of the nontransgenic controls. The observation that peak trehalose levels remain well below 1 mg/g fresh weight indicates that the primary effect of trehalose is not as a compatible solute. Rather, increased trehalose accumulation correlates with higher soluble carbohydrate levels and an elevated capacity for photosynthesis under both stress and nonstress conditions, consistent with a suggested role in modulating sugar sensing and carbohydrate metabolism. These findings demonstrate the feasibility of engineering rice for increased tolerance of abiotic stress and enhanced productivity through tissue-specific or stress-dependent overproduction of trehalose. [ABSTRACT FROM AUTHOR]

SUMMARY We report three cases of spinal angiolipoma, two intramedullary and one epidural, and review their MRI features. Diagnoses were established preoperatively in all cases. Specific MRI features including the importance of postgadolinium fat-saturated T1-weighted images and presence of vascular flow-voids are discussed with histopathological correlation. A characteristic morphological appearance of intramedullary angiolipoma has been suggested. [ABSTRACT FROM AUTHOR]

The present case study focuses on indoor radon dispersion in an experimental room made of unfired mud brick by employing CFD modeling, active measurement, and passive measurement in closed and open room conditions. Radon flux for walls and floor surfaces of the room was measured experimentally. A CFD model was designed to simulate spatial distribution pattern of indoor radon. The CFD simulation results are validated through a newly developed RnDuo monitor and single-entry pinhole-based twin-cup dosimeter. The mean indoor radon concentration decreases by approximately one-fourth level in an open room as compared to a closed room. [ABSTRACT FROM AUTHOR]

Background: Intracranial mesenchymal chondrosarcoma (IMC) is a rare malignant tumor in pediatric population. IMC can present as extra- or intra-axial lesion in pediatric patients, though the former is commoner causing raised intracranial pressure (ICP). Radiological diagnosis is a challenge in these cases, as is it difficult to differentiate these from other extra-axial neoplasms due to the wide differential diagnosis in pediatric population. We aim to systematically review the literature and present a rare case of extraskeletal intracranial mesenchymal chondrosarcoma treated with safe maximal resection.A systematic review of literature was conducted in accordance with PRISMA guidelines. PubMed and Scopus databases were queried using the search terms, “primary intracranial chondrosarcoma”, “extraskeletal mesenchymal chondrosarcoma”, “mesenchymal chondrosarcoma” and “pediatric”. Presentation, surgical management and outcome of a 15-year-old male with an extraskeletal IMC are also described.The search yielded 25 articles which met the inclusion criteria. These published records consisted of 33 IMC cases with mean age at presentation of 9.81 ± 5.2 years (range 2 months to 18 years). Frontal region was the commonest locations (11, 33.3%). Most common presentation was headache (14, 42.4%). All patients underwent surgical intervention: gross total resection (20, 60.6%), subtotal resection (9, 27.3%) and no extent mentioned (4, 12.1%). No adjuvant therapy was received in 15 patients (45.5%). On latest follow-up, 11 patients (33.3%) are on remission, 5 patients (15.2%) are symptom free, 3 patients (9.1%) had recurrence, 2 patients (6.1%) had metastasis and 9 patients (27.3%) expired.IMC is a rare entity in pediatric population with imaging findings which are non-characteristic leading to its diagnostic challenge. It can masquerade as other extra-axial intracranial neoplasm (meningioma or hemangiopericytoma). Combination of clinico-radiological and pathological examination can help in accurate diagnosis.  Safe Maximal resection followed by radiotherapy is the preferred treatment strategy.Methods: Intracranial mesenchymal chondrosarcoma (IMC) is a rare malignant tumor in pediatric population. IMC can present as extra- or intra-axial lesion in pediatric patients, though the former is commoner causing raised intracranial pressure (ICP). Radiological diagnosis is a challenge in these cases, as is it difficult to differentiate these from other extra-axial neoplasms due to the wide differential diagnosis in pediatric population. We aim to systematically review the literature and present a rare case of extraskeletal intracranial mesenchymal chondrosarcoma treated with safe maximal resection.A systematic review of literature was conducted in accordance with PRISMA guidelines. PubMed and Scopus databases were queried using the search terms, “primary intracranial chondrosarcoma”, “extraskeletal mesenchymal chondrosarcoma”, “mesenchymal chondrosarcoma” and “pediatric”. Presentation, surgical management and outcome of a 15-year-old male with an extraskeletal IMC are also described.The search yielded 25 articles which met the inclusion criteria. These published records consisted of 33 IMC cases with mean age at presentation of 9.81 ± 5.2 years (range 2 months to 18 years). Frontal region was the commonest locations (11, 33.3%). Most common presentation was headache (14, 42.4%). All patients underwent surgical intervention: gross total resection (20, 60.6%), subtotal resection (9, 27.3%) and no extent mentioned (4, 12.1%). No adjuvant therapy was received in 15 patients (45.5%). On latest follow-up, 11 patients (33.3%) are on remission, 5 patients (15.2%) are symptom free, 3 patients (9.1%) had recurrence, 2 patients (6.1%) had metastasis and 9 patients (27.3%) expired.IMC is a rare entity in pediatric population with imaging findings which are non-characteristic leading to its diagnostic challenge. It can masquerade as other extra-axial intracranial neoplasm (meningioma or hemangiopericytoma). Combination of clinico-radiological and pathological examination can help in accurate diagnosis.  Safe Maximal resection followed by radiotherapy is the preferred treatment strategy.Results: Intracranial mesenchymal chondrosarcoma (IMC) is a rare malignant tumor in pediatric population. IMC can present as extra- or intra-axial lesion in pediatric patients, though the former is commoner causing raised intracranial pressure (ICP). Radiological diagnosis is a challenge in these cases, as is it difficult to differentiate these from other extra-axial neoplasms due to the wide differential diagnosis in pediatric population. We aim to systematically review the literature and present a rare case of extraskeletal intracranial mesenchymal chondrosarcoma treated with safe maximal resection.A systematic review of literature was conducted in accordance with PRISMA guidelines. PubMed and Scopus databases were queried using the search terms, “primary intracranial chondrosarcoma”, “extraskeletal mesenchymal chondrosarcoma”, “mesenchymal chondrosarcoma” and “pediatric”. Presentation, surgical management and outcome of a 15-year-old male with an extraskeletal IMC are also described.The search yielded 25 articles which met the inclusion criteria. These published records consisted of 33 IMC cases with mean age at presentation of 9.81 ± 5.2 years (range 2 months to 18 years). Frontal region was the commonest locations (11, 33.3%). Most common presentation was headache (14, 42.4%). All patients underwent surgical intervention: gross total resection (20, 60.6%), subtotal resection (9, 27.3%) and no extent mentioned (4, 12.1%). No adjuvant therapy was received in 15 patients (45.5%). On latest follow-up, 11 patients (33.3%) are on remission, 5 patients (15.2%) are symptom free, 3 patients (9.1%) had recurrence, 2 patients (6.1%) had metastasis and 9 patients (27.3%) expired.IMC is a rare entity in pediatric population with imaging findings which are non-characteristic leading to its diagnostic challenge. It can masquerade as other extra-axial intracranial neoplasm (meningioma or hemangiopericytoma). Combination of clinico-radiological and pathological examination can help in accurate diagnosis.  Safe Maximal resection followed by radiotherapy is the preferred treatment strategy.Conclusion: Intracranial mesenchymal chondrosarcoma (IMC) is a rare malignant tumor in pediatric population. IMC can present as extra- or intra-axial lesion in pediatric patients, though the former is commoner causing raised intracranial pressure (ICP). Radiological diagnosis is a challenge in these cases, as is it difficult to differentiate these from other extra-axial neoplasms due to the wide differential diagnosis in pediatric population. We aim to systematically review the literature and present a rare case of extraskeletal intracranial mesenchymal chondrosarcoma treated with safe maximal resection.A systematic review of literature was conducted in accordance with PRISMA guidelines. PubMed and Scopus databases were queried using the search terms, “primary intracranial chondrosarcoma”, “extraskeletal mesenchymal chondrosarcoma”, “mesenchymal chondrosarcoma” and “pediatric”. Presentation, surgical management and outcome of a 15-year-old male with an extraskeletal IMC are also described.The search yielded 25 articles which met the inclusion criteria. These published records consisted of 33 IMC cases with mean age at presentation of 9.81 ± 5.2 years (range 2 months to 18 years). Frontal region was the commonest locations (11, 33.3%). Most common presentation was headache (14, 42.4%). All patients underwent surgical intervention: gross total resection (20, 60.6%), subtotal resection (9, 27.3%) and no extent mentioned (4, 12.1%). No adjuvant therapy was received in 15 patients (45.5%). On latest follow-up, 11 patients (33.3%) are on remission, 5 patients (15.2%) are symptom free, 3 patients (9.1%) had recurrence, 2 patients (6.1%) had metastasis and 9 patients (27.3%) expired.IMC is a rare entity in pediatric population with imaging findings which are non-characteristic leading to its diagnostic challenge. It can masquerade as other extra-axial intracranial neoplasm (meningioma or hemangiopericytoma). Combination of clinico-radiological and pathological examination can help in accurate diagnosis.  Safe Maximal resection followed by radiotherapy is the preferred treatment strategy. [ABSTRACT FROM AUTHOR]

Endonasal endoscopic transsphenoidal surgery (TSS) and resection of pituitary adenomas are considered the gold standard treatment for Cushing disease (CD). Even with various recent advances in management, disease persistence and recurrence are common in these patients. The remission rate in the global population after surgery has been reported to vary widely from 64% to 93%. This study aims to determine the various clinical, biochemical, radiological, and histological factors that correlate with persistence and recurrence in patients with CD. This study also aims to understand the clinicopathological significance of EGFR-MAPK, NF-κB, and SHH pathway activation and to study the protein expression of activation markers of these pathways (i.e., c-Fos, c-Jun, GLI-1, pMEK, NR4A1, and p44) in functioning corticotroph pituitary adenomas. From January 2009 to September 2022, the clinical data of 167 patients who underwent surgical treatment (n = 174 surgeries) for CD with a median follow-up of 8.1 years (range, 1–13.29 years) were ambispectively analyzed. The preoperative clinical, biochemical, and radiological features, operative findings, postoperative clinical and biochemical data, and histopathological and molecular profiles were retrieved from the electronic medical records. The patients were followed up to assess their remission status. Among the 174 surgeries performed, 140 were primary surgeries, 22 were revision surgeries, 24 surgeries were for pediatric patients, and 12 surgeries were for patients with Nelson syndrome. In the primary surgery cohort, 74.3% were female, and the average age was 28.73 ± 10.15 years. Of the primary surgery cohort, 75% of the patients experienced remission compared with 47.4% after revision surgery. The remission rate for the pediatric patients was 55.5%. The postoperative day 1 plasma cortisol (P < 0.001; area under the curve, 0.8894; range, 0.8087–0.9701) and adrenocorticotropic hormone (P < 0.001; area under the curve, 0.9; range, 0.7386–1) levels were seen to be strong independent predictors of remission in the primary surgery cohort. The remission rate after endoscopic TSS was greater than that after microscopic TSS in patients undergoing primary surgery (81.08% vs. 57.14%; P = 0.008). The presence of adenoma on histopathological examination (HPE) was also a strong predictor of disease remission (P = 0.020). On stratifying by surgical approach and HPE, microscopically operated patients without histopathological evidence of adenoma had significantly higher odds of nonremission (odds ratio, 38.1; 95% confidence interval, 4.2–348.3) compared with endoscopically operated patients with adenoma found on HPE. A lower immunoreactivity score for NR4A1 was found to correlate with higher remission rates (P = 0.074). However, none of the molecular markers studied (i.e., c-Fos, c-Jun, GLI-1, pMEK, and p44) showed a significant correlation with the preoperative cortisol values. The remission rate after primary surgery is higher than that after revision surgery and is lower for pediatric patients than for adults. The postoperative day 1 plasma cortisol and adrenocorticotropic hormone levels are strong independent predictors of remission in the primary surgery cohort. An endoscopic approach with histopathological evidence of adenoma is associated with a higher remission rate; thus, endoscopy should be the approach of choice for these patients with the goal of identification of an adenoma on HPE. [ABSTRACT FROM AUTHOR]

Background Diffuse midline gliomas (DMGs) are malignant tumors predominantly affecting children, often leading to poor outcomes. The 2021 World Health Organization classification identifies 3 subtypes of DMGs, all characterized by the loss of H3K27 trimethylation. Here, we report 2 cases of DMG with Epidermal Growth Factor Receptor (EGFR) mutations within exon 20, contributing to the understanding of the molecular complexity of these pediatric brain tumors. Methods An economical immunohistochemical panel was designed to aid in the diagnosis of most DMGs in resource-constrained regions. Sanger sequencing was employed to identify rare EGFR mutations in exon 20 of 2 cases. Results Molecular analyses of 2 cases of DMG revealed novel EGFR mutations within exon 20. These mutations were identified using cost-effective diagnostic approaches. The presence of EGFR mutations expands the molecular landscape of DMGs and highlights the genetic heterogeneity within this tumor entity. Conclusions These findings underscore the molecular heterogeneity of DMGs and the significance of identifying novel mutations, such as EGFR mutations in exon 20. Further research into the molecular mechanisms underlying DMGs is warranted to advance therapeutic strategies and improve outcomes for pediatric patients. [ABSTRACT FROM AUTHOR]

PSP-Like Phenotype in Genetically Confirmed SCA12 Keywords: SCA12; PSP; atypical parkinsonism; DaTSCAN EN SCA12 PSP atypical parkinsonism DaTSCAN 326 328 3 02/23/23 20230201 NES 230201 Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansions in the protein phosphatase 2 regulatory subunit B beta (PPP2R2B) gene in chromosome 5q.[1] The prevalence of SCA12 is high in Northern parts of India because of the common founder effect, and most of the affected families belong to the Agrawal community.[2] The commonest presenting symptom of SCA12 is the action tremors of upper limbs, which may precede the ataxia by many years.[[3]] Phenotypic spectrum of SCA12 also includes various non-ataxic manifestations, such as dystonia, parkinsonism, and cognitive impairment.[[1], [3]] Rarely, SCA12 can present as an "atypical atypical parkinsonism" and pose a diagnostic challenge.[5] A 61-year-old man from Punjab, India, presented with a history of progressive difficulty in walking, which worsened over the past 3 years with episodes of frequent falls. One should consider SCA12 in the differential diagnosis of atypical atypical parkinsonism with a PSP-like phenotype in a patient of ethnic origin where SCA12 is prevalent, even in the absence of family history. [Extracted from the article]

Hirayama disease is a relatively unusual cause of cervical myelopathy characterized by uni- or bilateral asymmetric weakness, fasciculations and atrophy of the distal upper limbs, mostly seen in young males. The insidious weakness progresses over 3-5 years, after which it stops. Hirayama disease results from the abnormal anterior shifting of the posterior cervical dura that occurs during cervical flexion, leading to cord impingement. Electrophysiologic studies reveal denervation of C7-T1 myotomes and absence of sensory involvement. Dynamic magnetic resonance imaging of the cervical spine is essential in confirming the diagnosis. Treatment is aimed at primarily avoiding neck flexion, which is achieved with the help of a cervical brace; however, progressive disease calls for surgical intervention. Although the disease is self-limiting, it causes many functional impairments in affected individuals. In this review, we describe the epidemiology, pathophysiology, clinical manifestations, imaging characteristics, electrophysiologic findings, differential diagnoses and updates in the treatment of Hirayama disease. This review also aims to improve the awareness of this disease among clinicians, enabling early suspicion, diagnosis and management. [ABSTRACT FROM AUTHOR]

Hemidystonia, unilateral limb choreoathetosis, unilateral limb tremor, faciobrachial dystonia, and myoclonus have been reported in the literature. Keywords: Rasmussen's encephalitis; Hemichorea; Movement disorder EN Rasmussen's encephalitis Hemichorea Movement disorder 542 545 4 05/13/22 20220501 NES 220501 Movement disorders in Rasmussen's encephalitis (RE) are rarely described. Hyperkinetic movement disorders except myoclonus3 have been rarely described in RE because the more predominant presentation of seizures overshadows subtle movement disorders; however, a thorough understanding of movement disorders in RE is important because these may be the only presentations of a patient with RE. [Extracted from the article]

The article describes the case of a 16-year-old girl of Indian descent who presented with complaints of difficulty in walking since the age of 2 but has no reported cognitive impairment, hearing or vision or other neurological deficits. Cited are the findings of neurological examination which led to the diagnosis of Aicardi-Goutières Syndrome (AGS), the classical features of AGS, and the genotype-phenotype correlation between the c.529G>A variant.

The article presents radiological observations in four patients with genetically proven mitochondrial membrane protein-associated neurodegeneration (MPAN). Topics include the characteristics of MPAN such as progressive spasticity and gait abnormalities, the prominent spasticity observed in MPAN patients, and the novel radiological indicator of MPAN.

We wanted to evaluate if optical coherence tomography angiography OCTA findings could predict the functional outcome in extracranial carotid artery atherosclerotic disease (ECAD) associated stroke. This exploratory study was performed on adults with acute ischaemic stroke due to ECAD at 3–6 weeks following stroke onset with risk factor matched controls without carotid artery stenosis. Twenty-three stroke patients (cases) and 23 controls were enrolled. There was significant difference between cases and controls in deep vessel density at the macula (p =.0007) and in radial peripapillary capillary perfusion density (RPCPD) at the optic nerve head (ONH) (p =.0007). Statistically significant difference was noted in the total superficial vessel density (SVD) at the macula (SVD within 1 standard deviation [SD] versus SVD beyond 1 SD of control data) in the ipsilateral eye and functional outcome at 3 months (poor versus very good outcome, modified Rankin scale [mRS] 0–1 versus mRS 2–6, respectively; p =.0361). There was statistically insignificant correlation between the RPCPD at the ONH and the National Institutes of Health Stroke Scale score at admission, mRS at discharge, and mRS at 3 months following stroke onset (r =.33, r =.35, r =.39; p =.11, p =.09, p =.06, respectively). The findings of this exploratory study suggested that OCTA findings may predict 3 month outcomes in cases of ECAD-related stroke and could be useful in decision making in future intervention studies as to whether intervene or not in patients having critical or non-critical ECAD for preventing stroke. [ABSTRACT FROM AUTHOR]

Provides information on a case study regarding a child presented with right focal motor seizures and right hemiparesis. Significance of advances in neuroradiological investigations to the diagnosis and treatment of brain abscess; Description of a lesion found in the child's brain; Presumption on the role of the child's meningitis in the abscess formation.

Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD. [ABSTRACT FROM AUTHOR]

A 13-year-old female patient presented with painless vision loss and proptosis for 18 months. Imaging findings were highly suggestive of a supraorbital aneurysmal bone cyst (ABC) for which she underwent complete surgical excision. Postoperatively, she developed left hemiparesis. Computed tomography angiography (CTA) revealed right complete internal carotid arterial (ICA) thrombosis. This was managed conservatively, and she improved in hemiparesis over the next 3 weeks. Histopathology report revealed osteosarcoma with secondary ABC, for which she was referred for radiotherapy. At 1.5 months follow-up, the patient's left lower limb power improved to 4 + /5. She was walking without support, and her left upper limb power was 4/5. [ABSTRACT FROM AUTHOR]

Adamantinomatous craniopharyngioma is a grade 1 tumor that arises in a sellar/suprasellar location. Despite being a grade 1 tumor, there is high recurrence and endocrinal insufficiency. Malignancy arising in craniopharyngioma is extremely rare, has a dismal prognosis, and is currently not included as a separate entity in the World Health Organization Classification of Central Nervous System 5th edition. Here we describe a case of adamantinomatous craniopharyngioma and its malignant counterpart. The malignant part had unique histomorphology and basaloid cells with pseudoglandular architecture and a myxoid background. It bore a striking resemblance to adenoid cystic carcinoma. Both the benign and malignant counterparts were beta‐catenin and SOX‐2 positive, providing proof of the malignant part arising from the benign part. Tumors like squamous cell carcinoma and odontogenic ghost cell carcinoma have been described in cranipharyngioma. This case study is the first to describe this unique morphology of adenoid cystic carcinoma‐like features. The possibility of adenoid cystic carcinoma was excluded by immunohistochemistry. [ABSTRACT FROM AUTHOR]

Objectives: Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy. Material and Methods: Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients. Results: In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease. Conclusion: Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them. [ABSTRACT FROM AUTHOR]

Glial fibrillary acidic protein (GFAP) astrocytopathy is a rare autoimmune inflammatory disorder affecting the central nervous system, involving the meninges, brain parenchyma, and spinal cord. The distinctive radiologic feature observed on magnetic resonance imaging (MRI) is characterized by periventricular radial and linear contrast enhancement. This case report details a 45-year-old male who initially exhibited constitutional symptoms, followed by encephalitis, lower limb weakness, and urinary retention. The MRI findings revealed meningoencephalitis with longitudinal extensive myelitis. Notably, the cerebrospinal fluid analysis confirmed the presence of anti-GFAP antibodies. [ABSTRACT FROM AUTHOR]

Background and Purpose: Cerebral small vessel disease (CSVD) markers have not been widely studied in relation to hematoma volume and growth in hypertensive intracerebral hemorrhage (ICH). The objectives to assess the relationship of white matter hyperintense lesions (WMHL), microbleeds (MBs), and cortical siderosis (CSS) with hematoma volume, hematoma expansion (HE), and 3 months outcome in patients with hypertensive ICH. Methods: All consecutive acute hypertensive supratentorial ICH presenting to the emergency were prospectively recruited. Baseline and 24 hours computed tomography (CT) to assess hematoma volume and magnetic resonance imaging (MRI) for CSVD markers were performed in all subjects. WMHL (graded using Fazekas's scale), MBs, and CSS were assessed and compared with baseline variables and outcomes. All the images were assessed by an experienced stroke neurologist/neuroradiologist. Results: One hundred and fifty-seven patients were screened and 60 were included. Mean age was 54.08 ± 11.57 years and 47 (78%) were males. Of 60, 19 (28.1%) had HE, 31 (51.6%) had major bleed (>30 ml), and 28 (47.46%) had poor 3 month outcome (mRS 4-6). On univariate analysis, high grade WMHL was associated with greater HE [odds ratio (OR): 2.65, confidence interval (CI) 1.48--4.72, P = 0.001), greater proportion with volume >30 ml (OR: 7.16, CI: 1.09--47.13, P = 0.001) and poor outcome (OR: 2.1, CI: 0.05--3.27, P = 0.001). MBs were associated with poor outcome (P = 0.029) but not with HE/volume. CSS was related to HE (P = 0.031), a large volume bleed (P = 0.023), and poor outcome (P = 0.021). On multivariate model, only WMHL independently predicted HE (P = 0.034), greater proportion with bleed volume >30 ml (P = 0.041), and poor outcome (P = 0.042). Conclusions: WMHL in MRI serves as a predictor of hematoma expansion, a large volume bleed, and poor outcome in hypertensive ICH and may be incorporated into existing prediction models. [ABSTRACT FROM AUTHOR]

Neurocysticercosis (NCC) is the commonest parasitic infection of the central nervous system. There is significant difference in incidence of NCC depending on geographic location, and incidence as high as 4% is reported in the endemic areas. It results from human affliction by the larval stage of Taenia solium. Spinal NCC is quite rare as compared with cranial NCC and accounts for 1.5%–3% of all cases. Both spine and cranium can be rarely involved in NCC, and cranial involvement usually precedes the spinal involvement. We report a case of a 51-year-old woman who had spinal involvement first in the form of spinal intradural extramedullary disease and then developed cranial involvement more than 1 year later. She developed spinal arachnoiditis. She developed communicating hydrocephalous requiring ventriculoperitoneal shunt. Later she developed isolated fourth ventricle and required excision of the fourth ventricular NCC. The unique aspects of our patient were a very aggressive course and involvement of cranium after spinal involvement. We describe her clinical course over 3 years and the management done. NCC can sometimes follow a very aggressive course and can involve both cranial and spinal compartments. Management of such patients is not standardized given the rarity of such cases. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is characterized by supraclinoid internal carotid artery narrowing causing cerebral parenchyma to starve. Direct and indirect revascularisation techniques are the treatment norm. We provide a clinicoradiological comparison of single and double barrel superficial temporal artery to middle cerebral artery (STA-MCA) bypass for MMD. The perfusion in cerebral hemispheres and vessel density in digital subtraction angiography (DSA) have been evaluated using novel algorithms. DSA, arterial spin labeling magnetic resonance imaging methods and Suzuki, Matsushima, Angiographic Outcome Score scales were used to quantify perfusion parameters; modified Rankin Score was used for clinical evaluation. A novel image processing algorithm was designed to perform analysis of arterial spin labeling sequences and compare perfusion. Vessel density was calculated using connected component analysis on thresholded DSA images. Fifty-four hemispheres with MMD underwent STA-MCA bypass 42(77.8%) single barrel and 12 (22.2%) double barrel. Clinical outcome—modified Rankin Score was significant with P < 0.001 in single barrel and P = 0.001 in double barrel groups. The overall Angiographic Outcome Score showed improvement postoperatively (P = 0.032). Perfusion analysis was performed in 20 hemispheres (13 single barrel; 7 double barrel). MCA territories showed significant improvement in single barrel (2.72%, P = 0.0294) and double barrel groups (12.89%, P = 0.025). Vessel density calculated in MCA territory, showed an overall postoperative improvement (P = 1.75 × 10–8). Double barrel STA-MCA bypass clinically as well as radiologically improves perfusion in the ACA as well as MCA territories in MMD. The novel image processing algorithm is an accurate, objective tool to evaluate perfusion in magnetic resonance images and vessel density in DSA images of MMD. [ABSTRACT FROM AUTHOR]

Background: Hemispherotomy (HS) is an effective treatment for unilateral hemispheric onset epilepsy. There are few publications for HS in adults, and there is no series comparing adults and pediatric patients of HS. Objective: To compare the hemispherotomies done in adult patients with pediatric ones in terms of efficacy and safety. Methods: Data was prospectively collected for HS patients (up to 18 years and more) from Aug 2014 to Aug 2018. Comparison between the groups was made for seizure onset, duration of epilepsy, frequency of seizures, number of drugs, intraoperative blood loss, postoperative seizure control, postoperative stay, postoperative motor functions, and preoperative and postoperative intelligence quotient. Follow-up was one year. Results: A total of 61 pediatric and 11 adults underwent HS. The seizure onset was earlier in children, and the duration of epilepsy was longer in adults. The frequency of seizures per day was more in children being 14.62 ± 26.34 in children, and 7.71 ± 5.21 per day in adults (P - 0.49). The mean number of drugs was similar in the preoperative and postoperative periods in both. Class I seizure outcome was similar in both the groups being 85.24% in children and 90.9% in adults (P - 0.56). Blood loss, postoperative stay, was similar in both the groups. No patient had a new permanent motor deficit. Power worsened transiently in 1 pediatric patient and in 4 adult patients. The visual word reading and object naming improved in both the groups (no intergroup difference), and IQ remained the same in both groups. One adult patient had meningitis, and another had hydrocephalus requiring shunt placement. Conclusion: Hemispherotomy is a safe and effective procedure in adults as in children in appropriately selected patients. [ABSTRACT FROM AUTHOR]

Medicine has many vividly named signs. We have compiled a list of radiological cerebral signs inspired by phenomena in outer space. These range from the well- known 'starry sky' appearance of neurocysticercosis or tuberculomas, to various lesser known signs including the 'starfield' pattern of fat embolism; 'sunburst' sign of meningiomas; 'eclipse' sign of neurosarcoidosis; 'comet tail' sign of cerebral metastases; 'Milky Way' sign of progressive multifocal leukoencephalopathy; 'satellite' and 'black hole' sign of intracranial haemorrhage; 'crescent' sign of arterial dissection and 'crescent moon' sign of Hirayama disease. [ABSTRACT FROM AUTHOR]

A case study of a 28‑year‑old male, born out of non‑consanguineous marriage from North‑West India belonging to Aggarwal community, presented with history of recurrent neurologic deficits since the last 14 years. Topics include autosomal recessive monogenic vasculitic syndrome caused by loss of function homozygous or compound heterozygous mutations; and deficiency of adenosine deaminase‑2 (DADA‑2) is recently described as an autoimmune disease caused by mutations.

This article discusses a case study of a 12-year-old boy with THAP1-associated dystonia, a condition that mimics neurodegeneration with brain iron accumulation (NBIA). The boy presented with childhood onset, generalized dystonia that progressively worsened over time. Neurological examination revealed dystonia involving various body regions, along with bradykinesia and rigidity. Magnetic resonance imaging (MRI) showed hypointensity in the bilateral globus pallidi, a finding typically associated with NBIA. However, genetic testing revealed a pathogenic mutation in the THAP1 gene, confirming the diagnosis of DYT6 dystonia. Treatment with levodopa and other medications resulted in mild improvement. This case adds to the evidence that DYT-THAP1 should be considered as a mimic of NBIA. [Extracted from the article]