Sahil Mehta

Tuberculomas in “Critical” Locations of the Visual Pathway—A Masquerader

ABSTRACT Tuberculosis never stops fascinating physicians. The burden of tuberculosis is a major cause of disability. While drugs are often blamed when patients develop new focal deficits on treatment, the deterioration in these patients can have a myriad of causes including the development of new tuberculomas. Recognizing the critically located tuberculomas as potential causes of vision loss is indispensable. Here, we report two patients with strategic tuberculomas leading to vision loss. In one patient, the cause of visual morbidity was compression of the optic pathways; in the other patient, cortical vision loss was noted due to strategic location of tuberculomas.

Glioblastoma multiforme masquerading as a tumefactive demyelinating lesion: Lessons learned at autopsy

Tumefactive demyelinating (TD) lesions are extremely challenging lesions to diagnose during their histopathological examination and are often misdiagnosed as tumors. On the contrary, a glioblastoma multiforme is rarely misdiagnosed as a TD unless the two coexist. We present a case of a 60-year old man who was diagnosed as having tumefactive demyelination on a stereotactic biopsy. At autopsy, however, the lesion revealed a grade IV glioblastoma. The myelin loss along the periphery of the lesion was erroneously interpreted as TD during the histopathological examination. We have described the imaging, the biopsy, and the autopsy findings of this instructive case. It is pertinent to recognize its histology to prevent a misdiagnosis.

Electroclinical characteristics of new-onset seizures associated with neurocysticercosis

PURPOSE Although seizures are the most common presentation of neurocysticercosis (NCC), the electroclinical characteristics of the seizures have not been adequately studied. MATERIALS AND METHODS The study cohort included 308 consecutive patients presenting with a new-onset seizure, both acute symptomatic or unprovoked. They were divided into two groups: Group 1 (NCC group), those in whom imaging studies revealed active or inactive NCC (N = 184 (59.7%)) and group 2 (non-NCC group), those in whom either imaging was normal or revealed abnormalities other than NCC or the diagnosis was idiopathic generalized epilepsy (N = 124 (40.3%)). RESULTS Clinical features significantly associated with group 1 included focal seizures (specifically, aphasic seizures (P < 0.05)), seizure clusters (P < 0.0001), postictal Todds paresis (P < 0.05), and peri-ictal headaches (P < 0.008). In addition, somatosensory and visual seizures, and focal-clonic and focal-tonic were more frequent in this group. Generalized clonic seizures (P < 0.05) were significantly more common in the group 2. The findings of regional epileptiform abnormalities (P = 0.0001) and primary generalized epilepsy (P < 0.0001) on electroencephalography were significantly more common in group 2. SIGNIFICANCE In patients presenting with new-onset seizure, aphasic seizures, seizure clusters, postictal Todds palsy and peri-ictal headaches might augur the finding of NCC, both active and inactive lesions, on imaging.

Facial nuclear degeneration on MRI in bulbar onset amyotrophic lateral sclerosis.

A 45-year-old male presented with progressive dysarthria and dysphagia for 1 year. Examination revealed bilateral facial (Figure 1A) and neck flexor weakness, with depressed gag and tongue fasciculations. Fasciculations, wasting and brisk reflexes were noted in upper limbs. Facial reflexes were not brisk, and pseudobulbar affect was not present. Bell’s …

An Unusual And Intriguing Presentation Of Sydenham’s Chorea

A 26-year-old male born of a non-consanguineous marriage with normal birth and developmental history presented with abnormal movements for the last 15 years. He first noticed changes in his handwriting. The movements were jerky, non-stereotyped, and were associated with violent flinging movements. They were not preceded by any premonitory urge and were only partially suppressible. The movements gradually progressed to involve the face and neck, and, over the next 5 years, became generalized. His parents also complained of behavioral disturbances such as hyperactivity, aggressiveness, and obsessive-compulsive behavior. There was no history of cognitive decline, psychosis, seizures, or myoclonic jerks. Family history was non-contributory. There was no history of rheumatic fever, vasculitis, or exposure to toxins. The patient suffered frequent throat infections until the age of 5 years. He had been previously prescribed multiple medications, without significant improvement (tetrabenazine, haloperidol, valproate, clonazepam in various combinations). General physical examination was normal. He was alert, oriented to time, place, and person. Pertinent examination findings included unclear speech and generalized hypotonia. Deep tendon reflexes were 2+ with bilateral flexor plantar response and no cerebellar signs. The movement disorder is depicted in the Video 1. Work-up for his generalized chorea was undertaken. His C-reactive protein and antistreptolysin (ASO) titers were normal. Vasculitic markers Rheumatoid factor (RF/ ANA/dsDNA/C3/c-ANCA/p-ANCA/anti-Ro/La/anticardiolipin antibodies/APLA/LA), 24-hour urinary copper, ceruloplasmin levels, PBF for acanthocytes, TSH, anti-TPO antibodies, anti-TTG, alpha-fetoprotein, and vitamin E levels were all within normal limits. Antibody testing for paraneoplastic syndrome was negative. Previously performed normal investigations included tandem mass spectrometry for aminoacidopathies, urine for propionic aciduria, genetic testing for DYT1 mutation, and genetic testing for Huntington’s disease (CAG repeats25). Magnetic resonance imaging brain was normal. Fludeoxyglucose positron emission tomography (PET) brain revealed mild hypermetabolism in the bilateral caudate nuclei (Figure 1). Echocardiography revealed mild thickening of the mitral and aortic leaflets. In view of longstanding generalized chorea with the suggestion of mitral valve thickening on echocardiography and striatal hypermetabolism on the PET scan, the patient was diagnosed as a case of Sydenham’s chorea. Whole-exome sequencing did not reveal any pathogenic variation. Finally, antineuronal antibodies (Cunningham panel) were markedly elevated: dopamine D1, 16,000 (normal range 500–2000); lysoganglioside, 320 (normal range 80–320); tubulin, 4,000 (normal range 250–1,000), CaM kinase II, 120 (normal range 53–130). In view of these findings, the patient was started on methylprednisolone therapy and intravenous immunoglobulin. However, the patient showed only a marginal improvement in the severity of chorea. The hyperkinetic movements decreased in amplitude. His gait improved, and violent flinging movements of the arms also decreased in intensity. Presently, the patient is on periodic cycles of methylprednisolone and intravenous immunoglobulin Freely available online

Feeding Dystonia: Feeding Dystonia

A 45-year-old female with no prior comorbidities presented with a history of generalized tonic-clonic seizures, trouble while chewing and swallowing food, spontaneous tongue protrusion, and lip bites of three years duration. Examination revealed oro-lingual dystonia, classically present during eating, resulting in throwing out of food bolus, dysarthria, bilateral upper limb chorea, and generalized areflexia (Video 1, segment 1). Her brother had a similar presentation with oro-lingual dystonia while eating (Video 1, segment 2), generalized areflexia, and seizures for two years. There was no history of exposure to neuroleptic drugs.

Multiple Cranial-Nerve Palsies: An Unusual Culprit

Dear Editor, The presentation of multiple cranial-nerve palsies is a common clinical scenario in neurological practice. The lesion can be localized anatomically based on the pattern of cranial-nerve involvement. We report a rather rare presentation of a rare disorder with the same manifestations. A 52-year-old diabetic male presented with the subacute onset of severe holocranial and throbbing headache with a 2-month history. This was associated with vomiting and mild fever lasting 1 week. One week later he developed tinnitus, vertigo, and bilateral sequential severe sensorineural hearing loss associated with bilateral palsy of the lower motor neuron 7th nerve (left>right). There was no history of seizures, focal neurological deficits, joint pains, oral ulcers, or loss of weight or appetite. A physical examination did not reveal any contributory factors, with the exception of mild icterus, involvement of the 7th and 8th cranial nerves, and swaying while walking that was attributed to vestibular dysfunction. Puretone audiometry confirmed the presence of bilaterally severe sensorineural hearing loss with a bilateral type A tympanogram on impedance audiometry. The blink test was not performed. The differential diagnosis included chronic meningitis, hypertrophic pachymeningitis, noninfectious granulomatous diseases, carcinomatous meningitis, and CNS vasculitis. The patient was evaluated at another hospital, where brain contrast-enhanced MRI was performed, which produced normal findings. A CSF analysis revealed 16 cells (all lymphocytes) and normal protein and sugar levels. Brain contrast-enhanced MRI and CSF analysis including of malignant cells at our hospital produced findings within normal limits. The patient had already received intravenous steroids at another hospital, which resolved the headache and vomiting and could explain the absence of cerebral/brainstem lesions on brain MRI and the acellular CSF. Serum angiotensin converting enzyme, antinuclear antibody, and anti neutrophilic cytoplasmic antibody levels were also normal. FDG-PET was performed to rule out granulomatous inflammation/malignancy. This revealed increased uptake in the nasal cartilage and right aural cartilage and non-FDG-avid thickening of the left earlobe (Fig. 1). Splenic infarcts were also noted in the lateral aspect of the spleen. A review found that he had a significant 3-year history of recurrent episodes of painful bilateral external-ear swelling and redness that occurred every year, lasted for 1 week, and was responsive to IV Non-steroidal antiinflammatory drugs. He also had a 30-year history of jaundice. A workup for hemolytic jaundice revealed hereditary spherocytosis as the cause: paroxysmal nocturnal hemoglobinuria mutation, G6PD, and direct Coombs test were negative, and a peripheral blood film revealed spherocytosis with a positive osmotic fragility test. Based on his clinical presentation (7th and 8th nerve involvement) with evidence of nasal and auricular chondritis on the FDG-PET scan, our patient fulfilled McAdam’s diagnostic criteria for relapsing polychondritis. In view of the splenic infarct, the possibility of secondary Turlapati Padmavathi Shashikala Sahil Mehta Aman Sharma Bhagwant Rai Mittal

Carbamazepine responsive generalized dystonia in Fahr's disease

Fahrs disease, also known as striopallidodentatecalcinosis, is a rare neurological disorder characterized by deposition of calcium in the brain [1]. Calcified deposits are made up of calcium phosphate and calcium carbonate, and are most frequently present in the basal ganglia, hippocampus, thalamus, cerebral cortex, cerebellar subcortical white matter and dentate nucleus. Fahrs disease typically affects individuals in their 3rd and 4th decades [2]. The most common clinical presentation is as a movement disorder, which may include parkinsonism, dystonia, chorea, or athetosis. Other potential features include cognitive impairment, cerebellar ataxia and psychiatric dysfunction [2]. We describe a patient with Fahrs disease who presented with a constellation of generalized dystonia, cerebellar ataxia, chorea and psychiatric features. Her dystonia responded very well to carbamazepine. A 52-year-old female presented with generalized dystonia, choreiform movements and cerebellar ataxia that had been progressive over a period of one year. Themovements would disappear during sleep. She also had psychiatric disturbances in the form of depression and anxiety. However, she was never exposed to neuroleptic agents. Family history was negative for any neurological illness. Examination of the movement disorder showed generalized dystonia with blepharospasm, orofacial dystonia, and cervical dys-

An unusual cause of reversible parkinsonism

department. Clin Neurol Neurosurg 2013;115:1671‐6. 5. Yang HL, Lin YP, Long Y, Ma QL, Zhou C. Predicting cardioembolic stroke with the B‐type natriuretic peptide test: A systematic review and meta‐analysis. J Stroke Cerebrovasc Dis 2014;23:1882‐9. This is an open access article distributed under the terms of the Creative Commons Attribution‐NonCommercial‐ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non‐commercially, as long as the author is credited and the new creations are licensed under the identical terms.

A rare but treatable cause of paroxysmal nonkinesigenic choreoathetosis

Paroxysmal dyskinesias are a heterogeneous group of movement disorders characterized by episodic recurrent abnormal involuntary movements. Phenomenology of the movements can range from chorea, athetosis, ballism, dystonia in isolation or in combination.[1] They are classified as paroxysmal kinesigenic choreoathetosis (PKC), paroxysmal nonkinesigenic choreoathetosis (PNKD), and paroxysmal exercise-induced dyskinesia (PED) depending on the trigger and can be inherited or secondary. Secondary causes include trauma, stroke, meningovascular syphilis, encephalitis, multiple sclerosis, and metabolic disorders such as diabetes, hypoparathyroidism, hyperparathyroidism, and kernicterus.[2] We describe a young patient with secondary PNKD with some peculiarities.