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1.
Brain Tumor Pathol ; 2024 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-39154303

RESUMO

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently recognised tumor type with indolent behaviour with characteristic imaging and histomolecular features. We describe the clinical, imaging, histo-molecular features of 15 cases diagnosed as low-grade glioma suggestive of PLNTY, over a period of 3 years. Immunohistochemistry (IHC) and fluorescence in situ hybridisation were used to assess molecular alterations. The tumors were seen predominantly in children (range 5-65 years). Most of the patients presented with history of seizures. Imaging revealed cortical-subcortical well demarcated solid-cystic tumor with intratumoral calcification. Histopathology revealed a low-grade tumor with oligodendroglia-Iike cells admixed with astrocytic cells immunopositive for CD34. BRAF p.V600E mutations and FGFR2 breakapart were observed in six cases each, while three showed FGFR3 breakapart. FGFR2 breakapart positive PLNTY were seen in children exclusively. The majority of cases were seizure free post-surgery, except two patients who succumbed to the illness. PLNTY, needs to be considered as a prime differential diagnosis in a solid-cystic tumor in a young patient with history of seizures. Characteristic clinical features, radiology, histomorphology with an IHC panel of OLIG2, GFAP and CD34 correlates with one of the MAPK alterations in PLNTY (BRAF p.V600E, FGFR2/3 gene rearrangement). In a resource limited setting, this limited panel may be sufficient for a correlative diagnosis.

2.
Neuroradiology ; 2024 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-39102087

RESUMO

BACKGROUND: Tuberculomas are prevalent in developing countries and demonstrate variable signals on MRI resulting in the overlap of the conventional imaging phenotype with other entities including glioma and brain metastasis. An accurate MRI diagnosis is important for the early institution of anti-tubercular therapy, decreased patient morbidity, mortality, and prevents unnecessary neurosurgical excision. This study aims to assess the potential of radiomics features of regular contrast images including T1W, T2W, T2W FLAIR, T1W post contrast images, and ADC maps, to differentiate between tuberculomas, high-grade-gliomas and metastasis, the commonest intra parenchymal mass lesions encountered in the clinical practice. METHODS: This retrospective study includes 185 subjects. Images were resampled, co-registered, skull-stripped, and zscore-normalized. Automated lesion segmentation was performed followed by radiomics feature extraction, train-test split, and features reduction. All machine learning algorithms that natively support multiclass classification were trained and assessed on features extracted from individual modalities as well as combined modalities. Model explainability of the best performing model was calculated using the summary plot obtained by SHAP values. RESULTS: Extra tree classifier trained on the features from ADC maps was the best classifier for the discrimination of tuberculoma from high-grade-glioma and metastasis with AUC-score of 0.96, accuracy-score of 0.923, Brier-score of 0.23. CONCLUSION: This study demonstrates that radiomics features are effective in discriminating between tuberculoma, metastasis, and high-grade-glioma with notable accuracy and AUC scores. Features extracted from the ADC maps surfaced as the most robust predictors of the target variable.

3.
Artigo em Inglês | MEDLINE | ID: mdl-38994791

RESUMO

BACKGROUND AND OBJECTIVE: Primary hemifacial spasm (HFS) is caused by neurovascular conflict (NVC) at the root entry zone of the facial nerve. Whether reduction of posterior cranial fossa (PCF) cerebrospinal fluid (CSF) volume is a risk factor for HFS is not clear. The study aims at the radiologic assessment of PCF CSF volume and its clinical correlation. METHODS: A cross-sectional, hospital-based, case-control study was conducted, in which 50 cases of primary HFS and 50 age- and sex-matched controls were recruited. PCF CSF volume was quantified in 3-T brain magnetic resonance imaging. RESULTS: The mean age at presentation of cases was 50.7 ± 10.7 years (42-69 years) and controls was 52.4 ± 8.7 years (45-68 years). The mean duration of symptoms was 3.5 ± 1.3 years (1.5-8 years). About 52% of patients had grade 2 (mild) severity of HFS. The mean PCF CSF volume of patients was 13,725.1 ± 909.5 mm3 and controls was 14,458.5 ± 973.5 mm3 (P < 0.001). The mean PCF CSF volume of females with HFS was 13,714.8 ± 852.5 mm3 and female controls was 14,521.8 ± 973.5 mm3 (P = 0.006). PCF CSF volume was significantly associated with the presence of HFS (P = 0.007), the severity of HFS (P < 0.001), and the presence of NVC (P = 0.02). CONCLUSION: PCF CSF volume was lesser in HFS patients and was associated with the presence of HFS, the severity of HFS, and the presence of NVC. Females with HFS had smaller PCF CSF volume. Small PCF CSF volume is a risk factor for HFS, particularly in females with HFS.

4.
Dement Geriatr Cogn Dis Extra ; 14(1): 14-28, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38910897

RESUMO

Introduction: Microglia exert a crucial role in homeostasis of white matter integrity, and several studies highlight the role of microglial dysfunctions in neurodegeneration. Primary microgliopathy is a disorder where the pathogenic abnormality of the microglia causes white matter disorder and leads to a neuropsychiatric disease. Triggering receptor expressed on myeloid cells (TREM2), TYRO protein tyrosine kinase binding protein (TYROBP) and colony-stimulating factor 1 receptor (CSF1R) are genes implicated in primary microgliopathy. The clinical manifestations of primary microgliopathy are myriad ranging from neuropsychiatric syndrome, motor disability, gait dysfunction, ataxia, pure dementia, frontotemporal dementia (FTD), Alzheimer's dementia (AD), and so on. It becomes imperative to establish the diagnosis of microgliopathy masquerading as degenerative dementia, especially with promising therapies on horizon for the same. We aimed to describe a case series of subjects with dementia harbouring novel genes of primary microgliopathy, along with their clinical, neuropsychological, cognitive profile and radiological patterns. Methods: The prospective study was conducted in a university referral hospital in South India, as a part of an ongoing clinico-genetic research on dementia subjects, and was approved by the Institutional Ethics Committee. All patients underwent detailed assessment including sociodemographic profile, clinical and cognitive assessment, pedigree analysis and comprehensive neurological examination. Subjects consenting for blood sampling underwent genetic testing by whole-exome sequencing (WES). Results: A total of 100 patients with dementia underwent genetic analysis using WES and three pathogenic variants, one each of TREM2, TYROBP, and CSF1R and two variants of uncertain significance in CSF1R were identified as cause of primary microgliopathy. TREM2 and TYROBP presented as frontotemporal syndrome whereas CSF1R presented as frontotemporal syndrome and as AD. Conclusion: WES has widened the spectrum of underlying neuropathology of degenerative dementias, and diagnosing primary microglial dysfunction with emerging therapeutic options is of paramount importance. The cases of primary microgliopathy due to novel mutations in TREM2, TYROBP, and CSF1R with the phenotype of degenerative dementia are being first time reported from Indian cohort. Our study enriches the spectrum of genetic variants implicated in degenerative dementia and provides the basis for exploring complex molecular mechanisms like microglial dysfunction, as underlying cause for neurodegeneration.

5.
Glob Med Genet ; 11(2): 167-174, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38736558

RESUMO

Introduction VMA21 -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India. Method Here, we describe a case of genetically confirmed VMA21 -associated myopathy with clinical, histopathological, and imaging features with a list of known VMA21 mutations. Results A 29-year-old man had the onset of symptoms at 18 years of age with features of proximal lower limb weakness. Muscle magnetic resonance imaging showed the preferential involvement of vasti and adductor magnus. A biopsy of the left quadriceps femoris showed features of autophagic vacuolar myopathy with vacuoles containing granular eosinophilic materials. In targeted next-generation sequencing, hemizygous mutation in the 3' splice site of intron 2 of the VMA21 gene (c.164-7 T > A) was identified and confirmed the diagnosis of X-linked myopathy with excessive autophagy. Conclusion This report expands the phenotypic and genotypic profile of VMA21 -related myopathy, with a yet unreported mutation in India.

6.
eNeurologicalSci ; 35: 100505, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38784860

RESUMO

Background and aims: Waldenstroms macroglobulinemia (WM) is a low-grade B cell neoplasm. Bing Neel syndrome is a rare manifestation of WM characterized by infiltrative involvement of the central nervous system. Case report: 64-year-old man, presented with 4 years history of slowly progressive diplopia and ptosis of eyes. Examination showed left oculomotor (internal and external ophthalmoplegia), with trochlear, abducens, and right partial oculomotor and abducens nerve involvement. Evaluation showed anemia of hemoglobin 10.7 g/dL, raised erythrocyte sedimentation rate of 120 mm/h and plasma albumin:globulin reversal. Serum protein electrophoresis showed a paraprotein peak in the early gamma region with elevated IgM level (3810 mg/dL) and elevated free kappa light chain level (70.1 mg/L). Bone marrow aspiration from posterior iliac crest revealed mature small lymphocytes with positive immunohistochemical markers of CD5, CD10 negativity and MYD88 mutation positivity suggestive of WM. Patient was treated with bendamustine and rituximab regimen, with no neurological improvement at the end of one year. Conclusion: This case expands spectrum of paraproteinemic neuropathy to include cranial nerve palsy. Thus, plasma cell dyscrasias have to be considered in patients with isolated ophthalmoparesis especially in elderly patients, even with other comorbidities such as diabetes mellitus.

7.
eNeurologicalSci ; 35: 100504, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38803399

RESUMO

Neurocutaneous melanocytosis (NCM) is a rare, sporadic neuroectodermal dysplasia characterized by the presence of large or multiple congenital cutaneous nevi and melanocytic deposits in the central nervous system. Hitherto, unreported we describe a case of NCM with optic neuropathy and spinal cord melanoma from India. A 20 year-old-lady had headache and vomiting for 3 months followed by consecutive profound painless visual impairment. Visual acuity was counting of fingers at 1 m distance in both eyes with normal fundus. There were no symptoms of spinal cord involvement. Clinical examination showed multiple small to large melanocytic nevi over the face and body. Muscle power was normal. Tendon reflexes were exaggerated. Visual evoked potential showed bilateral prolonged P100 latency (Right eye - 144 msec; Left eye - 151 msec). Brain MRI revealed leptomeningeal enhancement of brainstem, cerebellum, oculomotor and facial-abducent nerve complex without optic nerve involvement. MRI spine showed extensive dorsal thoracic cord epidural lesion extending along the entire thoracic cord segment with dorsal cord compression. Positron Emission Tomography (PET) imaging showed Fludeoxyglucose F18 (FDG) avidity along D1-D12 levels of spinal cord. Biopsy from the cord lesion was suggestive of meningeal melanoma. Here we document a rare case of late onset NCM with intracranial meningeal infiltration and asymptomatic large epidural lesion of spinal cord, expanding its phenotypic spectrum. Optic neuropathy in NCM has not been reported earlier. Periodic screening of brain and spine is recommended for early prognostication and lesion identification in NCM.

8.
medRxiv ; 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38405699

RESUMO

Background: GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies revealed cerebellar atrophy in 74-97% of patients. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide supportive diagnostic features and earlier disease recognition. Methods: We performed a retrospective review of the brain MRIs of 35 patients (median age at MRI 63 years; range 28-88 years) from Quebec (n=27), Nancy (n=3), Perth (n=3) and Bengaluru (n=2) to assess the presence of atrophy in vermis, cerebellar hemispheres, brainstem, cerebral hemispheres, and corpus callosum, as well as white matter involvement. Following the identification of the superior cerebellar peduncles (SCPs) involvement, we verified its presence in 54 GAA-FGF14 ataxia patients from four independent cohorts (Tübingen n=29; Donostia n=12; Innsbruck n=7; Cantabria n=6). To assess lobular atrophy, we performed quantitative cerebellar segmentation in 5 affected subjects with available 3D T1-weighted images and matched controls. Results: Cerebellar atrophy was documented in 33 subjects (94.3%). We observed SCP involvement in 22 subjects (62.8%) and confirmed this finding in 30/54 (55.6%) subjects from the validation cohorts. Cerebellar segmentation showed reduced mean volumes of lobules X and IV in the 5 affected individuals. Conclusions: Cerebellar atrophy is a key feature of GAA-FGF14 ataxia. The frequent SCP involvement observed in different cohorts may facilitate the diagnosis. The predominant involvement of lobule X correlates with the frequently observed downbeat nystagmus.

9.
Saudi J Anaesth ; 18(1): 12-16, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38313727

RESUMO

Background: Reduction in the hippocampal volume may contribute to agitated and delayed emergence after anesthesia in epilepsy surgery. We hypothesized that hippocampal volume and the duration of various recovery parameters after a short duration of sedation may be correlated. The primary objective was to evaluate the correlation between hippocampal volumes with time to recovery after the stoppage of propofol infusion. Methods: After obtaining Institute Ethical Clearance, we included all children of the age group 5-17 years, who needed sedation for brain magnetic resonance imaging (MRI) for at least 20-60 minutes for the evaluation of epilepsy. The hippocampal volume was estimated bilaterally in the pre-contrast volumetric magnetization-prepared rapid gradient-echo (MPRAGE) brain imaging by the radiologist using statistical parametric mapping. The correlation of hippocampal volume with recovery and time to discharge (assessed by the modified Aldrete score (MAS)) was obtained using Spearman's correlation coefficient (rho). A rho > ± 0.5 was considered a good correlation between the variables. Results: Data on a total of 18 children (10 males and 8 females) who required sedation for an MRI were studied over a period of six months. The correlation coefficients of right and left corrected hippocampal volumes with time to spontaneous eye opening were -0.052 and -0.195, respectively. The correlation coefficients of right and left corrected hippocampal volumes with time to respond to oral commands were -0.017 and -0.219, respectively. Conclusion: There was a weak negative correlation between hippocampal volumes and recovery parameters after a short duration of sedation with propofol in children.

10.
Int J Neurosci ; : 1-4, 2024 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-38178642

RESUMO

AIM OF THE STUDY: Expand the differential diagnosis of secondary headache to include rare intracranial tumours, detected incidentally on brain imaging. Intracranial lipomas are rare congenital malformations, and are usually pericallosal asymptomatic midline lesions. However, some cases present with headache and seizures. Symptomatic intracranial lipomas are very rare and often detected incidentally on brain imaging. METHODS: We present a 52-year-old woman referred to our tertiary centre with a history of hypothyroidism presented with headache for 2 years. She had generalised body pains for six months. Her headache was persistent despite being on medications. Physical and neurological examination was unremarkable. Her visual acuity and fundus examination were normal. RESULTS: Her brain imaging revealed a lesion over the corpus callosum and in the interhemispheric fissure with signal attenuation on the fat suppression sequence, features suggestive of curvilinear pericallosal lipoma. Symptomatic treatment with analgesics and anti-inflammatory agents were slightly effective. It is debatable whether tumour removal is required, as the risks of surgical intervention far outweigh the potential benefits. CONCLUSION: Corpus callosal lipoma is a rare and unrecognised cause of secondary headache. It should be suspected in patients with an atypical headache without papilledema and who are unresponsive to analgesics. This may be the only presenting feature of intracranial lipomas rendering it even more difficult to suspect and diagnose, thus emphasising the importance of evaluating secondary headaches. Diagnosis is important because long-term follow-up may be required if patients develop new focal deficits, which may necessitate surgical intervention.

11.
J Clin Neurosci ; 120: 163-169, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38245979

RESUMO

BACKGROUND: Transcranial sonographic (TCS) evaluation of optic nerve sheath diameter (ONSD), third ventricular diameter (TVD) and mean flow velocities (Vm) and pulsatility index (PI) of middle cerebral artery (MCA) can provide important insights to the change in intracranial dynamics following ventriculo-peritoneal (VP) shunt surgery. The primary objective of this study was to observe changes in ONSD values following VP shunt at 12 h, compared to pre-VP shunt values. METHODS: After obtaining ethical approval, patients admitted with a diagnosis of hydrocephalus posted for a VP shunt surgery were prospectively enrolled. TCS evaluation was done before induction of anesthesia and 12-hour post-VP shunt surgery. We recorded the values of ONSD, TVD and Vm and PI MCA at both time points. RESULTS: Thirty-four patients (19 male) were evaluated for ONSD and for the improvement of symptoms. Transtemporal window could not be obtained in six patients. At 12 h following VP shunt, bilateral median ONSD values reduced significantly from their pre-VP shunt values [right ONSD- 0.62 (0.59-0.64) to 0.53 (0.5-0.54) mm (p < 0.001); left ONSD- 0.62 (0.59-0.63) to 0.53 (0.5-0.54) mm (p < 0.001)]. Similarly, the median TVD at 12 h post-VP shunt reduced significantly from its pre-VP shunt measurements [0.97 (0.85-1.09) to 0.74 (0.7-0.84) cm]. PI MCA values reduced significantly, while Vm MCA values increased significantly from the pre-VP shunt values. CONCLUSION: VP shunt reduced the ONSD, TVD, PI MCA and increased the Vm MCA after shunt surgery as early as 12hrs.


Assuntos
Hidrocefalia , Hipertensão Intracraniana , Terceiro Ventrículo , Humanos , Masculino , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/cirurgia , Hipertensão Intracraniana/cirurgia , Pressão Intracraniana/fisiologia , Nervo Óptico/diagnóstico por imagem , Estudos Prospectivos , Terceiro Ventrículo/cirurgia , Ultrassonografia , Derivação Ventriculoperitoneal , Feminino
12.
J Neuromuscul Dis ; 11(1): 221-232, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38108359

RESUMO

Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early onset and slowly progressing motor and sensory deficits in the distal extremities, along with foot deformities. We describe a patient with CMT4H who presented with rapidly progressing flaccid quadriparesis during the postpartum period, which improved significantly with steroid therapy. Magnetic resonance imaging and ultrasonography demonstrated considerable nerve thickening with increased cross-sectional area in the peripheral nerves. A nerve biopsy revealed significant demyelination and myelin outfolding. This is the first report of an Indian patient with a novel homozygous nonsense c.1672C>T (p.Arg558Ter) mutation in the FGD4 gene, expanding the mutational and phenotypic spectrum of this disease.


Assuntos
Doença de Charcot-Marie-Tooth , Feminino , Humanos , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/patologia , Proteínas dos Microfilamentos/genética , Linhagem , Mutação , Fenótipo , Fatores de Troca do Nucleotídeo Guanina/genética
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