Publications by authors named "Bevinahalli Nandeesh"

32 Publications

Utility of multiparametric pre-operative magnetic resonance imaging in differentiation of chordoid meningioma from the other histopathological subtypes of meningioma-a retrospective study.

Neuroradiology 2021 Apr 10. Epub 2021 Apr 10.

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, 560029, India.

Purpose: To determine the magnetic resonance imaging (MRI) features which could pre-operatively differentiate chordoid meningioma (CM) from other histopathological subtypes of meningioma.

Methods: Retrospective analysis of pre-operative MRI of cases with histopathologically confirmed diagnosis of meningioma during the last 5 years at our institute was done. T1W, T2W, FLAIR sequences, and post-contrast enhancement were evaluated on a qualitative scale. Normalized ADC ratios (nADCR) and normalized fractional anisotropy ratios (nFAR) were derived. The intratumoral susceptibility score (ITSS), presence of sunburst pattern of vasculature, bone changes, tumour-parenchyma interface, and oedema-to-tumour ratio were also determined.

Results: A total of 81 lesions were analyzed out of which 15 were CM. CM showed a higher relative contrast enhancement as compared to all other subtypes except for angiomatous and microcystic meningioma. Relative signal intensity on FLAIR could differentiate CM from transitional meningioma. nFAR was found to be significantly higher in fibroblastic meningioma and significantly lower in microcystic meningiomas as compared to CM. Anaplastic meningiomas were remarkable for bone changes and an ill-defined tumour-brain interface in significantly higher proportion of cases as compared to CM. nADCR > 1.5 was found to be an independent predictor of CM with a sensitivity of 84.6%, specificity of 89.8%, positive predictive value of 64.7%, and negative predictive value of 96.4%.

Conclusion: Routine pre-operative MRI may be able to differentiate CM from other meningioma subtypes and a cut-off value of greater than 1.5 for nADCR could be predictive of > 50% chordoid histology of meningioma with a high sensitivity, specificity, and negative predictive value.
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http://dx.doi.org/10.1007/s00234-021-02690-2DOI Listing
April 2021

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.

J Hum Genet 2021 Mar 12. Epub 2021 Mar 12.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.

Megaconial congenital muscular dystrophy (CMD)(OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients are recorded. We present a detailed description of the clinical, histopathological, imaging, and genetic findings of five children from four Indian families. The children had moderate-to-severe autistic behavior, hand stereotypies, and global developmental delay mimicking atypical Rett syndrome. In addition, generalized hypotonia was a common initial finding. The progression of muscle weakness was variable, with two patients having a milder phenotype and three having a severe form. Interestingly, the majority did not attain sphincter control. Only patient 1 had classical ichthyotic skin changes. Muscle biopsy in two patients showed a myopathic pattern with characteristic peripherally placed enlarged mitochondria on modified Gomori trichrome stain and electron microscopy. Genetic analysis in these patients identified three novel null mutations in CHKB [c.1027dupA (p.Ser343LysfsTer86);c.224 + 1G > T (5' splice site); c.1123C > T (p.Gln375Ter)] and one reported missense mutation, c.581G > A (p.Arg194Gln), all in the homozygous state. Megaconial CMD, although rare, forms an important group with a complex phenotypic presentation and accounted for 5.5% of our genetically confirmed CMD patients. Atypical Rett syndrome-like presentation may be a clue towards CHKB-related disorder.
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http://dx.doi.org/10.1038/s10038-021-00913-1DOI Listing
March 2021

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.

Eur J Paediatr Neurol 2021 Mar 16;31:54-60. Epub 2021 Feb 16.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India. Electronic address:

Three unrelated girls, all born to consanguineous parents had respiratory distress, severe hypotonia at birth along with prominent fatigable muscle weakness and characteristic myopathic facies. In addition, patient 1 had fatigable ptosis, ophthalmoparesis and profound bulbar weakness and required nasogastric feeding from birth. A feeding gastrostomy was inserted at 9 months of age. She continued to have severe bulbar and limb weakness with dropped head at 5 years of age. Patient 2 and 3 did not have ocular signs at the time of initial presentation during infancy and at 2 years of age respectively. None of the patients attained independent walking. Patient 3, currently aged 16 years continues to be wheelchair bound and has only mild non-progressive bulbar weakness with normal cognitive development. Muscle biopsy in patient 1 and 3 showed predominant myopathic features admixed with small sized (atrophic/hypoplastic) fibres. Next generation sequencing confirmed the presence of a homozygous loss of function VAMP1 mutations in all three patients: A single nucleotide deletion resulting in frameshift: c.66delT (p.Gly23AlafsTer6) in patient 1 and nonsense mutations c.202C>T (pArg68Ter) and c.97C>T (p.Arg33Ter) in patient 2 and 3 respectively. Minimal but definite improvement in muscle power with pyridostigmine was reported in patients 1 and 2. This is the first report of VAMP1 mutations causing CMS from the Indian subcontinent, describing a clinically recognizable severe form of VAMP1-related CMS and highlighting the need for a strong index of suspicion for early genetic diagnosis of potentially treatable CMS phenotypes.
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http://dx.doi.org/10.1016/j.ejpn.2021.02.005DOI Listing
March 2021

Case of primary dural epithelioid angiosarcoma with review of literature and differential diagnosis.

Clin Neuropathol 2021 Feb 9. Epub 2021 Feb 9.

The central nervous system (CNS) is an uncommon site for primary epithelioid angiosarcoma. We report a case of a 25-year-old male who presented with swelling over the head, headache, and weakness of the right side for 6 months. MRI revealed a heterogeneously intense large left parietal dural-based, extra-axial mass with dural tail infiltrating the brain parenchyma, overlying calvaria along with mass effect and vasogenic edema in the left parietal lobe. The patient underwent complete resection of the tumor with adjuvant radiotherapy. Histology revealed a mitotically active vasoformative neoplasm with epithelioid morphology which was immunoreactive for CD31, ERG, FLI-1, and variably for CK. Based on the histomorphological and immunohistochemical profile, a diagnosis of epithelioid angiosarcoma was rendered. The extreme rarity in this location and the highly malignant nature of this tumor makes the clinical diagnosis and management very challenging. These tumors are often considered as meningiomas on prebiopsy imaging due to dural location and dural tail. Further, the misconception may continue on histological examination if only EMA is utilized, since both meningioma and epithelioid angiosarcoma can be positive. There are only 10 previous reports of meningeal angiosarcoma reported in the literature.
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http://dx.doi.org/10.5414/NP301355DOI Listing
February 2021

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.

Eur J Neurol 2021 Apr 17;28(4):1344-1355. Epub 2020 Dec 17.

Department of Neuromuscular Diseases, Iranian Centre of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.

Background And Purpose: Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease.

Methods: We leverage the diagnostic utility of exome and genome sequencing and describe novel biallelic variants in PLEKHG5 in 13 individuals from nine unrelated families originating from four different countries. We compare our phenotypic and genotypic findings with a comprehensive review of cases previously described in the literature.

Results: We found that patients presented with variable disease severity at different ages of onset (8-25 years). In our cases, weakness usually started proximally, progressing distally, and can be associated with intermediate slow conduction velocities and minor clinical sensory involvement. We report three novel nonsense and four novel missense pathogenic variants associated with these PLEKHG5-associated neuropathies, which are phenotypically spinal muscular atrophy (SMA) or intermediate Charcot-Marie-Tooth disease.

Conclusions: PLEKHG5-associated neuropathies should be considered as an important differential in non-5q SMAs even in the presence of mild sensory impairment and a candidate causative gene for a wide range of hereditary neuropathies. We present this series of cases to further the understanding of the phenotypic and molecular spectrum of PLEKHG5-associated diseases.
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http://dx.doi.org/10.1111/ene.14649DOI Listing
April 2021

Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for DNA by Polymerase Chain Reaction Method.

Am J Trop Med Hyg 2020 07 9;103(1):209-213. Epub 2020 Apr 9.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Identification of DNA by polymerase chain reaction (PCR) is a reliable and an affordable method to confirm leprosy. DNA from 87 nerve samples (61 from paraffin blocks and 26 fresh samples) was extracted. DNA was amplified by PCR from 80/87 (92%) specimens. Patients were seen over a period of 11 years (2007-2019), and leprosy was diagnosed based on clinical and characteristic histopathology findings. The clinical diagnostic possibilities were as follows: leprous neuropathy in 73/80 (91.3%), mononeuritis multiplex of unknown etiology in four (5.0%), vasculitic neuropathy in two (2.5%), and distal symmetric sensory motor neuropathy in one (1.3%). The biopsied nerves were as follows: superficial radial = 34 (42.6%), dorsal cutaneous branch of ulnar = 19 (23.8%), sural = 18 (22.5%), and superficial peroneal = 9 (11.3%), and corresponding neurological deficits were recorded in 77 (96.3%) cases. The histopathological diagnoses in total group were as follows: (borderline tuberculoid (BT) = 52, tuberculoid (TT) = 8, borderline lepromatous (BL) = 8, borderline borderline (BB) = 3, nonspecific inflammation = 3, healed/fibrosed = 4, and axonopathy = 2). Acid fast bacilli (AFB) was demonstrated in 11 (13.7%) samples. For comparison, 31 clinically and histopathologically defined non-leprous disease control nerves (inherited neuropathy = 20, vasculitis = 8, and nutritional neuropathy = 3) subjected to PCR were negative for DNA. In most instances, there are multiple thickened peripheral nerves in suspected cases of leprosy, but neurological deficits pertaining to the thickened nerve are not as widespread. The current findings emphasize the importance of selecting the most appropriate nerve for biopsy to obtain a positive PCR result. We infer that clinical, histopathological, and PCR tests complement each other to help achieve a definitive diagnosis of leprosy particularly in pure neuritic leprosy and in leprous neuropathy with negative skin smears/biopsy.
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http://dx.doi.org/10.4269/ajtmh.19-0746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7356419PMC
July 2020

Evidence for Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

Am J Trop Med Hyg 2020 03;102(3):547-552

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Resistance to anti-leprosy drugs is on the rise. Several studies have documented resistance to rifampicin, dapsone, and ofloxacin in patients with leprosy. We looked for point mutations within the folP1, rpoB, and gyrA gene regions of the genome predominantly in the neural form of leprosy. DNA samples from 77 nerve tissue samples were polymerase chain reaction (PCR)-amplified for DNA and sequenced for drug resistance-determining regions of genes rpoB, folP1, and gyrA. The mean age at presentation and onset was 38.2 ± 13.4 (range 14-71) years and 34.9 ± 12.6 years (range 10-63) years, respectively. The majority had borderline tuberculoid leprosy (53 [68.8%]). Mutations associated with resistance were identified in 6/77 (7.8%) specimens. Mutations seen were those associated with resistance to rifampicin, ofloxacin, and dapsone. All the six patients were drug-naive. The clinical and pathological manifestations in this group did not differ from the drug-sensitive group. This study highlights the occurrence of resistance to the standard multidrug therapy and ofloxacin in leprosy. Among the entire cohort, 1/77 (1.3%) showed resistance to rifampicin, 2/77 (2.6%) to dapsone, and 5/77 (6.4%) to ofloxacin. Six new patients showing infection by mutant strains indicated the emergence of primary resistance. Resistance to ofloxacin could be due to frequent use of quinolones for many bacterial infections. The results of the study indicate the need for development of a robust and strict surveillance system for detecting drug resistance in leprosy in India.
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http://dx.doi.org/10.4269/ajtmh.19-0390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056437PMC
March 2020

Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.

Neuropathology 2020 Feb 5;40(1):93-98. Epub 2019 Dec 5.

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Stroke is a major cause of mortality and morbidity with a wide variety of etiological risk factors. Cerebral small vessel disease (SVD) is an important cause of stroke in the young with several hereditary disorders affecting these small blood vessels. Mutations in the COL4A1 gene (COL4A1) have been shown to be associated with a broad range of disorders including hemorrhagic stroke, myopathy, glaucoma and others. We report a rare case of stroke in an intellectually disabled 18-year-old girl with radiological evidence of basal ganglia microbleeds, periventricular white matter signal changes and porencephalic cyst. Ophthalmic examination revealed bilateral microcornea and Axenfeld-Rieger anomaly. At autopsy there were hemorrhagic lesions at multiple sites within the brain. Histology revealed thickened small-caliber vessels which demonstrated disruption and fragmentation of the basement membrane by collagen type IV alpha 1 immunohistochemistry and by electron microscopy. A missense COL4A1 mutation involving glycine residue was detected in the patient. The present case illustrates the clinicopathological spectrum of COL4A1-related cerebral SVD presenting as hemorrhagic stroke in the young with porencephaly, intellectual disability, and Axenfield-Rieger anomaly and thus adds to the clinical heterogeneity of this genetic disorder.
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http://dx.doi.org/10.1111/neup.12607DOI Listing
February 2020

Ossified Occipital Pseudomeningocele following Ventriculoperitoneal Shunt Malfunction.

J Neurosci Rural Pract 2019 Jul 7;10(3):542-544. Epub 2019 Oct 7.

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Ossification of pseudomeningocele is a rare occurrence and is one of the rare complications of ventriculoperitoneal (VP) shunt malfunction. We report a case of 12-year-old boy who came with features of raised intracranial pressure following shunt malfunction which was placed as a treatment to the aqueductal stenosis. Computed tomography showed ventriculomegaly and hypodense collection in the occiput with posterior rim of calcification. The findings were confirmed on histopathology. Although ossified pseudomeningocele is a rare entity following VP shunt placement, it should be suspected if patients present with aggravated symptoms, especially if there is shunt malfunction as the treatment option varies with the presence or absence of resultant symptoms and ossification.
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http://dx.doi.org/10.1055/s-0039-1695698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6779559PMC
July 2019

Intracranial fungal granuloma: a single-institute study of 90 cases over 18 years.

Neurosurg Focus 2019 08;47(2):E14

Departments of1Neurosurgery.

Objective: Intracranial fungal granuloma (IFG) remains an uncommon entity. The authors report a single-institute study of 90 cases of IFG, which is the largest study until now.

Methods: In this retrospective study, all cases of IFG surgically treated in the years 2001-2018 were included. Data were obtained from the medical records and the pathology, microbiology, and radiology departments. All relevant clinical data, imaging characteristics, surgical procedure performed, perioperative findings, and follow-up data were recorded from the case files. Telephonic follow-up was also performed for a few patients to find out their current status.

Results: A total of 90 cases consisting of 64 males (71.1%) and 26 (28.9%) females were evaluated. The mean patient age was 40.2 years (range 1-79 years). Headache (54 patients) was the most common presenting complaint, followed by visual symptoms (35 patients), fever (21 patients), and others such as limb weakness (13 patients) or seizure (9 patients). Cranial nerve involvement was the most common sign (47 patients), followed by motor deficit (22 patients) and papilledema (7 patients). The mean duration of symptoms before presentation was 6.4 months (range 0.06-48 months). Thirty patients (33.3%) had predisposing factors like diabetes mellitus, tuberculosis, or other immunocompromised status. A pure intracranial location of the IFG was seen in 49 cases (54.4%), whereas rhinocerebral or paranasal sinus involvement was seen in 41 cases (45.6%). Open surgery, that is, craniotomy and decompression, was performed in 55 cases, endoscopic biopsy was done in 30 cases, and stereotactic biopsy was performed in 5 cases. Aspergilloma (43 patients) was the most common fungal mass, followed by zygomycosis (13 patients), chromomycosis (9 patients), cryptococcoma (7 patients), mucormycosis (5 patients), and candida infection (1 patient). In 12 cases, the exact fungal phenotype could not be identified. Follow-up was available for 69/90 patients (76.7%). The mean duration of the follow-up was 37.97 months (range 3-144 months). The mortality rate was 52.2% (36/69 patients) among the patients with available follow-up.

Conclusions: A high index of suspicion for IFG should exist for patients with an immunocompromised status and diabetic patients with rhinocerebral mass lesions. Early diagnosis, aggressive surgical decompression, and a course of promptly initiated antifungal therapy are associated with a better prognosis.
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http://dx.doi.org/10.3171/2019.5.FOCUS19252DOI Listing
August 2019

Spinal Intramedullary Ganglioglioma in Children: An Unusual Location of a Common Pediatric Tumor.

Pediatr Neurosurg 2019 18;54(4):245-252. Epub 2019 Jun 18.

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, India,

Ganglioglioma is a common CNS tumor in children, mostly found in the temporal lobe, causing epilepsy. Spinal gangliogliomas are very rare, accounting for 1.1% of all intramedullary spinal tumors. The management principles and the need for adjuvant therapy are not yet well defined in this cohort. BRAF V600E mutation in spinal ganglioglioma has been described in a few series recently. In this report, we describe 3 children with spinal ganglioglioma at different locations, and their expression of BRAF V600E mutation and follow-up. In addition, we review the recent literature on pediatric spinal ganglioglioma management.
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http://dx.doi.org/10.1159/000500427DOI Listing
January 2020

Multiple Neurenteric Cysts along the Spinal Axis of an Infant: A Rare Entity.

Pediatr Neurosurg 2019 15;54(2):121-124. Epub 2019 Feb 15.

Department of Neurosurgery, Fortis Hospital, Bangalore, India.

A spinal neurenteric cyst is a rare entity. It commonly presents already at 5 weeks of age up to the 6th decade of life. The most common location is the cervical region followed by thoracic and lumbosacral regions. We report a 9-month-old male infant with sudden onset of weakness in both lower limbs. MRI revealed 2 cystic lesions at cervical and thoracic level with spinal cord compression. He underwent laminectomy and excision of the cervical lesion. The child improved significantly. The postoperative MRI shows complete excision of a dorsal lesion and presence of a cervical lesion. Later, he underwent cervical laminotomy and partial wall excision followed by shunt placement. The histopathological report revealed a neurenteric cyst. Two neurenteric cysts presented in the neuroaxis of the same patient: one was located ventral (thoracic) and the other dorsal (cervical). At the 2-year follow-up, the child was active and walking without support. Multiple cystic lesions in the neuroaxis can be neurenteric cysts.
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http://dx.doi.org/10.1159/000495791DOI Listing
April 2019

Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study.

Am J Trop Med Hyg 2019 04;100(4):921-931

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Neurotropism and infiltration by of peripheral nerves causing neuropathy are well established, but reports of central nervous system (CNS) damage are exceptional. We report CNS magnetic resonance imaging (MRI) abnormalities of the brain and spinal cord as well as lesions in nerve roots and plexus in leprosy patients. Eight patients aged between 17 and 41 years underwent detailed clinical, histopathological, and MRI evaluation. All had prominent sensory-motor deficits with hypopigmented and hypo/anesthetic skin patches and thickened peripheral nerves. All demonstrated DNA in affected peripheral nerve tissue. All received multidrug therapy (MDT). Two patients had brainstem lesions with enhancing facial nuclei and nerves, and one patient had a lesion in the nucleus ambiguus. Two patients had enhancing spinal cord lesions. Follow-up MRI performed in four cases showed resolution of brainstem and cord lesions after starting on MDT. Thickened brachial and lumbosacral plexus nerves were observed in six and two patients, respectively, which partially resolved on follow-up MRI in the two cases who had reimaging. The site and side of the MRI lesions corresponded with the location and side of neurological deficits. This precise clinico-radiological correlation of proximal lesions could be explained by an immune reaction in the gray matter corresponding to the involved peripheral nerves, retrograde axonal and gray matter changes, or infection of the CNS and plexus by lepra bacilli. Further study of the CNS in patients with leprous neuropathy is needed to establish the exact nature of these CNS MRI findings.
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http://dx.doi.org/10.4269/ajtmh.17-0945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447108PMC
April 2019

Surgical Management and Outcome of a Bilateral Thalamic Pilocytic Astrocytoma: Case Report and Review of the Literature.

Pediatr Neurosurg 2019 24;54(2):139-142. Epub 2019 Jan 24.

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, India.

The incidence of bilateral thalamic glioma in children is not reported in the literature. The majority of cases comprise either diffuse astrocytoma, anaplastic astrocytoma, or glioblastoma. Partial surgical resection or biopsy followed by adjuvant therapy is the usual treatment for bilateral thalamic gliomas. Prognosis is dependent on tumor grade and extent of tumor spread to surrounding critical structures. We present a rare case of bilateral thalamic pilocytic astrocytoma. Endoscopic biopsy, septostomy, and placement of a ventriculoperitoneal shunt was done followed by radiotherapy. The 36-month follow-up demonstrated radiological control of the tumor.
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http://dx.doi.org/10.1159/000495990DOI Listing
April 2019

Intracranial Actinomycosis Manifesting as a Parenchymal Mass Lesion: A Case Report and Review of Literature.

World Neurosurg 2019 Feb 1;122:190-194. Epub 2018 Nov 1.

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, India.

Background: Intracranial actinomycosis is a rare bacterial infection with no characteristic clinical or radiologic diagnostic features. The usual presentation is similar to pyogenic brain abscess or osteomyelitis with or without pachymeningitis. Intracranial actinomycosis rarely manifests as a parenchymal mass lesion. A high index of suspicion is warranted in a patient with immunosuppression or predisposing factors, such as dental procedure, sinusitis, cardiac septal defect, craniofacial trauma, cranial surgery, lung infection, or abdominopelvic infection.

Case Description: A young woman presented with a right parietal parenchymal lesion with involvement of the calvaria and pericranium. She had no predisposing factors for intracranial actinomycosis. She underwent complete microsurgical excision of the lesion followed by prolonged antibiotic therapy. She experienced a good functional recovery.

Conclusions: Intracranial actinomycosis manifesting as a parenchymal mass lesion is extremely rare compared with abscess and pachymeningitis. Histopathologic examination remains the mainstay of definitive diagnosis, as culture may be negative in significant number of cases. Aggressive surgical excision with prolonged antibiotic therapy enhances the chances of a good functional outcome.
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http://dx.doi.org/10.1016/j.wneu.2018.10.134DOI Listing
February 2019

Pediatric Suprasellar Atypical Teratoid Rhabdoid Tumor Arising from the Third Ventricle: A Rare Tumor at a Very Rare Location.

Asian J Neurosurg 2018 Jul-Sep;13(3):873-876

Department of Neurosurgery, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

Atypical teratoid rhabdoid tumor (ATRT) is a rare, highly malignant tumor of the central nervous system, commonly affecting children below 3 years of age, with around 300 cases reported in the literature. Suprasellar area is a very rare location for such tumor in the pediatric population, with technical difficulties in complete excision. Third ventricular ATRT is very rare. Here, we report the case of a 2-year-old male child who presented with lethargy and vomiting. He had features of raised intracranial pressure with reduced vision in both eyes. Magnetic resonance imaging of the brain revealed a heterogeneously enhancing lobulated giant lesion in the suprasellar location, occupying the third ventricle and hypothalamus with encasement of both carotids. He underwent pericoronal parasagittal craniotomy, interhemispheric transcallosal interforniceal approach and gross total excision of the lesion. Postoperatively, the child had altered sensorium and diabetes insipidus, both of which recovered over a span of 10 days. Histopathological examination of the specimen was consistent with the diagnosis of World Health Organization Grade IV ATRT. In spite of all our efforts, he succumbed to his illness 5 months postoperatively.
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http://dx.doi.org/10.4103/ajns.AJNS_350_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159048PMC
October 2018

Primary Pediatric Intracranial Neuroblastoma: A Report of Two Cases.

J Pediatr Neurosci 2018 Jul-Sep;13(3):366-370

Department of Neurosurgery, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

Neuroblastoma is the most common pediatric extracranial solid malignancy. It has a high propensity for spread, especially to the bones and lymph nodes. The involvement of central nervous system is uncommon and most of the cases are restricted to the spine. Primary intracranial neuroblastoma is extremely rare and very few cases have been described in the available literature. We report two cases of primary intracranial neuroblastoma in pediatric age group.
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http://dx.doi.org/10.4103/JPN.JPN_68_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144601PMC
October 2018

L1CAM Immunopositivity in Anaplastic Supratentorial Ependymomas: Correlation With Clinical and Histological Parameters.

Int J Surg Pathol 2019 May 25;27(3):251-258. Epub 2018 Sep 25.

1 National Institute of Mental Health and Neurosciences, Bangalore, India.

Supratentorial ependymomas (ST EPNs) are molecularly characterized, of which the RELA fusion positive tumors are the most common and aggressive subgroup. Moreover, histologically, anaplastic ST EPN (ST-AE) often mimic other central nervous system primary high-grade tumors resulting in a diagnostic dilemma. We aimed to study a cohort of ST-AE; evaluate the expression of two RELA fusion-associated markers-L1CAM and p65 (NF-κB); and correlate their expression with clinical and histological parameters. Cases of ST-AE diagnosed in our department from January 2011 to June 2016 (n = 72) were reviewed. A battery of immunohistochemical markers was employed. A total of 65 confirmed ST-AE were included in the study. Age ranged from 9 months to 60 years. There was a slight predominance in the pediatric population (57%). Male-to-female ratio was 1:1.16. Histomorphological features were varied and mimicked other high-grade tumors in several cases. L1CAM immunopositive tumors constituted 26% of cases and were predominantly seen in young children, in the frontoparietal location, and exhibited clear cell morphology with calcification. A consistent pattern of L1CAM immunopositivity was noted in paired primary and recurrent tumor samples. Our study portrays the varied clinical and histomorphological spectrum of ST-AE. The study emphasizes the association of L1CAM immunopositivity with a wide spectrum of histological parameters, literature on which is scant till date. Since ST EPN-RELA are tumors with aggressive behavior, such a correlation would be clinically relevant, particularly when there is limited access to molecular testing.
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http://dx.doi.org/10.1177/1066896918800812DOI Listing
May 2019

Supratentorial Pure Cortical Ependymoma: An Unusual Lesion Causing Focal Motor Aware Seizure.

J Neurosci Rural Pract 2018 Apr-Jun;9(2):264-267

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Ependymomas usually arise from the ependymal lining cells of the ventricular system and central canal of the spinal cord. Supratentorial ependymoma is a rare entity with the variable clinical course. In a small number of cases, ependymoma arises from supratentorial parenchyma. Only a few cases are reported in the literature. We report a case of 3-year-old girl with left frontal mass. Total removal of the mass lesion was performed without any neurological deficit. Pathological examination of the excised tumor was consistent with anaplastic ependymoma. We have discussed management strategy of this rare entity.
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http://dx.doi.org/10.4103/jnrp.jnrp_31_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912036PMC
May 2018

Streptococcus pluranimalium: Emerging Animal Streptococcal Species as Causative Agent of Human Brain Abscess.

World Neurosurg 2018 Jul 22;115:208-212. Epub 2018 Apr 22.

Department of Neuromicrobiology, NIMHANS, Bangalore, Karnataka, India. Electronic address:

Background: Streptococcus pluranimalium is a new and emerging animal streptococcal species associated with primary infection in bovine and avian species. Data in the literature regarding its pathogenic significance in human beings are limited. We hereby report a case of brain abscess caused by S. pluranimalium in a healthy adult male. S. pluranimalium, a causative agent of brain abscess, was unanticipated, and to the best of our knowledge, this is one of the rare cases reported in the medical literature.

Case Description: A 44-year-old male presented with headache and occasional episodes of vomiting for 2 weeks, weakness of the left upper and lower limbs for 1 week, and 1 episode of generalized tonic clonic seizure 2 days back. He was afebrile and had no history of loss of consciousness or head trauma. His physical and neurologic examination was unremarkable. Magnetic resonance imaging of the brain revealed a focal ring enhancing lesion in right posterior parietal lobe, suggestive of infective etiology. The patient underwent right parietooccipital craniotomy and excision of cerebral abscess, from which S. pluranimalium was isolated. The patient responded to treatment with intravenous ceftriaxone, vancomycin, and metronidazole without any residual neurologic sequelae.

Conclusion: Clinical data regarding epidemiology, pathogenic mechanisms, and zoonotic potential of S. pluranimalium in human beings are lacking. The number of cases of human infections with S. pluranimalium are steadily increasing. Hence further detailed study of the pathogenesis of S. pluranimalium in human beings is warranted, which may help to develop new strategies to prevent and treat infection with this bacterium.
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http://dx.doi.org/10.1016/j.wneu.2018.04.099DOI Listing
July 2018

Psammomatoid Juvenile Ossifying Fibroma: Report of Three Cases with a Review of Literature.

J Pediatr Neurosci 2017 Oct-Dec;12(4):363-366

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Psammomatoid juvenile ossifying fibroma (PJOF), a variant of juvenile ossifying fibroma (JOF), is a locally aggressive neoplasm of the children and young adults. This entity has predilection for the sinonasal region. It forms a differential diagnosis for many bone neoplasms. We report three cases of PJOF, in young patients whose biopsy showed the presence of psammomatoid bodies in a cellular fibrous stroma. The diagnosis of JOF indicates requirement of extensive surgery due to its locally aggressive nature.
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http://dx.doi.org/10.4103/jpn.JPN_78_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890560PMC
April 2018

A simple algorithmic approach using histology and immunohistochemistry for the current classification of adult diffuse glioma in a resource-limited set-up.

J Clin Pathol 2018 Apr 11;71(4):323-329. Epub 2017 Aug 11.

Department of Neuropathology, NIMHANS, Bangalore, India.

Aims: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up.

Methods: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX). Fluorescence in situ hybridisation (FISH) for 1p/19q co-deletion was performed when requested.

Results: 449 diffuse gliomas (grades II/III) were included in the study. Integrating histology and IHC features, as per the WHO 2016 guidelines, we derived the following groups: Astrocytoma, IDH-mutant (A,IDH-mt, 37.2%); astrocytoma, not otherwise specified (A,NOS, 12.7%); oligoastrocytoma, NOS (OA,NOS, 4.5%); and oligodendroglioma, NOS (ODG,NOS, 45.6%). FISH was performed in a subset of ODG,NOS, OA,NOS and A,NOS gliomas. This revealed 1p/19q co-deletion in all cases of ODG,NOS, 15.8% of OA,NOS and 37.5% of A,NOS. Sequencing for rare IDH 1/2 mutations was not carried out in this study.

Conclusion: In a resource-limited set-up, histology with IHC (IDH1(R132H) and ATRX) form the baseline to reasonably derive four histomolecular subgroups of diffuse glioma. Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. Sequencing for rare IDH mutations is advised for A,NOS and OA,NOS groups, but not for the IDH1(R132H)-non-mutant diffuse gliomas with 1p/19q co-deletion.
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http://dx.doi.org/10.1136/jclinpath-2017-204638DOI Listing
April 2018

LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT).

Childs Nerv Syst 2017 Nov 25;33(11):1953-1959. Epub 2017 Jul 25.

Department of Neuropathology, NIMHANS, Bangalore, 560 029, India.

Introduction: CNS embryonal tumors comprise a group of highly malignant neoplasms with a wide spectrum of histomorphological entities that includes Medulloblastoma (MB), Atypical Teratoid/Rhabdoid Tumor (AT/RT), Neuroblastoma (NB), Ganglioneuroblastoma (GNB), Embryonal Tumor with Multilayered Rosettes (ETMR), and the embryonal tumor-Not Otherwise Specified (NOS). The entity ETMR includes previously described histopathologic patterns-Embryonal Tumor with Abundant Neuropil and True Rosettes (ETANTR), Ependymoblastoma (EBL), and Medulloepithelioma (MEPL). Based on the histopathological similarities (multilayered rosettes) among ETANTR, EBL, and MEPL, as well as uniform clinical behavior and common molecular genetic characteristics, the WHO revision has created a new entity, "ETMR." Immunoreactivity of LIN28A has been identified as a sensitive tool for the diagnosis of this entity. Since there is a paucity of literature regarding immunoreactivity of LIN28A across all embryonal CNS tumors, the present study was undertaken.

Materials And Methods: During the 5-year study period (2012 to 2016), all the embryonal tumors (MB, AT/RT, other embryonal tumors-ETANTR, MEPL, PNET) that had been earlier diagnosed in the department of neuropathology (cases operated in our institute as well as received as referral) were reviewed. The archived Hematoxylin and Eosin (H&E) and the available immunohistochemistry (IHC) sections were studied. Further, for the other embryonal tumors where the paraffin blocks were available, an extended panel of IHC was performed for confirming the diagnosis of embryonal tumor and only confirmed cases were included in the study. The demographic details of the study cohort were noted. IHC for LIN28A was performed on conventional sections.

Results: A total of 396 cases of embryonal tumors including 302 MB, 72 AT/RT, and 22 other embryonal tumors were diagnosed during the study period. Among these, 80 MB, 35 AT/RT, 4 ETANTR, 1 MEPL, 4 NB, 2 GNB, and 1 CNS embryonal tumor-NOS (total-127) were included for the study. LIN28A immunoreactivity was absent in all MB, GNB, NB, and CNS embryonal tumors-NOS whereas all cases of ETMR (4 ETANTR, 1 MEPL) and 8/35 (23%) of AT/RT showed immunopositivity for LIN28A, which was patchy and distinct in most of the cases of ETMR.

Conclusion: Our study reiterates that LIN28A is a sensitive IHC marker for the diagnosis of ETMR. We also show that among CNS embryonal tumors, LIN28A is not specific to ETMRs and such immunoreactivity can also be seen in a proportion of AT/RTs.
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http://dx.doi.org/10.1007/s00381-017-3551-6DOI Listing
November 2017

Choroid plexus tuberculoma. Diagnosis, management and role of endoscopy.

Neurosciences (Riyadh) 2017 07;22(3):216-219

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bengaluru, India.

Ventricular involvement in central nervous system tuberculosis can be in the form of tuberculous ependymitis, intraventricular tuberculoma, intraventricular tuberculous abscess, choroid plexitis and choroid plexus tuberculoma. Only a few cases of choroid plexus tuberculomas have been described and even more rare is the description of the role of endoscopy in management of intraventricular tuberculomas. We report a 33-year-old patient while on treatment for tubercular meningitis who developed a left side choroid plexus lesion with loculated temporal horn. To confirm the diagnosis, endoscopic biopsy of the lesion was carried out. The final histopathology was tuberculoma. Intraventricular tuberculomas are usually associated with recalcitrant lesions, probably due to the poor drug levels within the CSF or as an indirect effect of immune resistance and biopsy becomes important to rule out other possibilities.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946367PMC
http://dx.doi.org/10.17712/nsj.2017.3.20160465DOI Listing
July 2017

ANCA Associated Mononeuritis Multiplex with Overlap in Vasculitic Syndromes.

J Clin Diagn Res 2017 Jan 1;11(1):OD01-OD03. Epub 2017 Jan 1.

Assistant Professor, Department of Neuropathology, NIMHANS , Bengaluru, Karnataka, India .

Mononeuritis multiplex is a common manifestation of many illnesses which includes Hansen's disease and certain types of systemic vasculitis. The Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis (AAV) is a group of rare diseases which show typical characteristic inflammatory cell infiltration and blood vessel wall necrosis. AAV syndromes include Granulomatosis with Polyangiitis (GPA), Microscopic Polyangiitis (MPA) and Eosinophilic Granulomatosis with Polyangiitis (EGPA). We describe a patient who presented with mononeuritis multiplex and had features of overlap between EGPA and MPA. The patient was treated with standard regimen of steroids and pulsed cyclophosphamide and she achieved excellent clinical remission.
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http://dx.doi.org/10.7860/JCDR/2017/22252.9149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324437PMC
January 2017

Synchronous Pediatric Supratentorial Glioblastoma Multiforme with Noncontiguous Infratentorial Pilocytic Astrocytoma: A Rare Event.

J Neurosci Rural Pract 2016 Dec;7(Suppl 1):S120-S122

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/0976-3147.196446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5244043PMC
December 2016

Primary parietal myeloid sarcoma.

J Pediatr Neurosci 2015 Oct-Dec;10(4):389-92

Department of Neurosurgery, Sri Sathya Sai Institute of Higher Medical Sciences, Bengaluru, Karnataka, India.

Intracranial occurrence of myeloid sarcoma without any evidence of systemic hematological disorder is uncommon. We report the case of a 17-year-old girl who presented with features of raised intracranial pressure and paraparesis of short duration. Magnetic resonance imaging showed a 6 cm bilateral middle 1/3(rd) para sagittal contrast enhancing extra-axial mass with mass effect. The tumor was subtotally excised. Histology and immunohistochemistry proved to be a myelosarcoma. Further evaluation done with peripheral blood smear and bone marrow biopsy ruled out the possibility of leukemia or myeloproliferative disorder. She was referred for chemotherapy and clinically showed improvement after 6 months of follow-up. Authors report a case of intracranial myelosarcoma which closely resembled meningioma both radiologically and in intraoperative morphological appearance. Authors discuss in detail the radiological and histological features of myelosarcoma along with differential diagnoses and treatment options.
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http://dx.doi.org/10.4103/1817-1745.174431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770659PMC
March 2016

Cutaneous amyloidosis and insulin with coexistence of acanthosis nigricans.

Indian J Pathol Microbiol 2014 Jan-Mar;57(1):127-9

Department of Pathology, St. John's Medical College, Bengaluru, Karnataka, India.

Skin is one of the important organs affected by amyloidosis which is characterized by extracellular deposition of fibrillary proteins having homogenous, eosinophilic on routine staining with distinct tinctorial properties. Nodular cutaneous amyloidosis is rare and may affect dermis, subcutis and also vascular walls. Nodular amyloid deposits in the deeper dermis occurring at the site of insulin injection are a rare observation, which is described here. This description indicates that cutaneous amyloidosis may be associated with local subcutaneous injections of insulin and may clinically mimic a neoplasm or lipodystrophic lesion.
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http://dx.doi.org/10.4103/0377-4929.130920DOI Listing
April 2015

A rare posterior cranial fossa tumor.

J Cancer Res Ther 2012 Oct-Dec;8(4):644-6

Among tumors of the central nervous system, tumors of the mixed glioneuronal type form an important recognized subset. Some of the examples for mixed glioneuronal tumors include gangliocytoma, dysembryoplastic neuroepithelial tumor (DNT), ganglioglioma, anaplastic ganglioglioma, and central neurocytoma. The rosette-forming glioneuronal tumor (RGNT) of the fourth ventricle is a new entity that has only slowly emerged in the literature due to its prior classification with other low-grade mixed glial and neuronal tumors. These tumors are relatively infrequent lesions, and therefore, they can be challenging to diagnose for the practicing pathologist. This is a rare biphasic tumor with clearly defined neurocytic and glial components. The tumor is found exclusively in the posterior fossa, where it arises in the midline, usually occupying a substantial fraction of the fourth ventricle, and it is observed by magnetic resonance imaging (MRI) as a circumscribed, solid mass with heterogeneous contrast enhancement. We describe here a case of RGNT occurring in a 22-year-old male.
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http://dx.doi.org/10.4103/0973-1482.106587DOI Listing
July 2013