We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

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In cross-sectional studies, low levels of folate and B12 have been shown to be associated with cognitive decline and dementia Evidence for the putative role of folate, vitamin B12 in neurocognitive and other neurological functions comes from reported cases of severe vitamin deficiencies, particularly pernicious anemia, and homozygous defects in genes that encode for enzymes of one-carbon metabolism. The neurological alterations seen in these cases allow for a biological role of vitamins in neurophysiology. Results are quite controversial and there is an open debate in literature, considering that the potential and differential role of folate and B12 vitamin in memory acquisition and cognitive development is not completely understood or accepted. What is not clear is the fact that vitamin B12 and folate deficiency deteriorate a pre-existing not overt pathological situation or can be dangerous even in normal subjects. Even more intriguing is the interaction between B12 and folate, and their role in developing hyperhomocysteinemia. The approach to the rehabilitation of the deficiency with adequate vitamin supplementation is very confusing. Some authors suggest it, even in chronic situations, others deny any possible role. Starting from these quite confusing perspectives, the aim of this review is to report and categorize the data obtained from the literature. Despite the plausible biochemical mechanism, further studies, based on clinical, neuropsychological, laboratory and (lastly) pathological features will be necessary to better understand this fascinating biochemical riddle.

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The Kluver-Bucy syndrome (KBS) is a neurobehavioral syndrome and can be seen in association with a variety of neurological disorders. Case records of 6 patients with KBS seen during a period of 5 years in a university hospital were reviewed. During the study period 6 patients with KBS, aged between 4 and 14 years, were seen. Hyperorality, hypersexuality, and abnormal behavior were the most common manifestations. Of the 6 patients, 5 had recurrent unprovoked seizures. The associated neurological disorders included anoxia-ischemic encephalopthy (2), herpes simplex encephalitis (1), neurocysticercosis (NCC) (1), traumatic brain injury with gliosis (1 case) and tuberculous meningitis (1 case). Prognosis was poor in all the patients except in the patient with NCC.

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Background: Iron accumulation in substantia nigra pars compacta (SNpc) and related intensity and volumetric changes in patients with idiopathic Parkinson’s disease (PD) has been reported previously. There are only a few studies evaluating the relation between neuroradiological findings and clinical scores, with contradictory results. Aims: In this study we aimed to measure the iron-rich brain areas of PD patients and healthy subjects with T2-weighted magnetic resonance imaging (MRI) and to evaluate the relation between the clinical scores of PD patients and these imaging results. Methods and Materials: T2-weighted MRI findings were studied in 20 patients with PD and 16 healthy controls. The width of SNpc, putamen volume, and the intensity of the basal ganglia were measured. Unified Parkinson’s Disease Rating Scale (UPDRS) was used for evaluating the clinical status. Statistical Analyses: Mann Whitney U test for group comparisons, Wilcoxon sign rank test for comparisons within the patient group, and Spearman’s rank correlation coefficient for analyses of correlations were used. Results: Mean SNpc and dentate nucleus intensities were lower in PD patients than healthy subjects. Mean SNpc width and putamen volumes were lower in patients. Decrease in the intensity of mean SNpc correlated with high UPDRS and rigidity scores. Conclusion: The results of our study reflect the increase in iron accumulation and oxidative stress in the SNpc in Parkinson’s disease. The decrease in the intensity of SNpc correlates with poor clinical scores.

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Memantine is a relatively new drug specially developed for use in moderate-to-severe dementia. It is an uncompetitive N-methyl-D-aspartate receptor antagonist and reduces glutamatergic excitotoxicity. Though Alzheimer’s disease (AD) is the commonest cause of dementia in the world, there is no “cure” available for the same. Cholinesterase inhibitors such as donepezil and rivastigmine have been shown to provide symptomatic relief in patients with AD but have no effect on disease progression or survival. Moreover, they are not helpful in more severe stages of dementia. Memantine has been shown to cause modest improvement in clinical symptoms in severe stages of AD and may retard the disease progression. Moreover, it has been shown to be useful in various forms of dementia including AD, vascular dementia and Wernicke-Korsakoff psychosis. It is also the first drug to cause complete disappearance of pendular nystagmus due to multiple sclerosis. The current review focuses on the pharmacological properties of memantine and examines the recent evidence in favor of memantine.

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Background: Mitochondrial diseases are caused by mutations in mitochondrial or nuclear genes, or both and most patients do not present with easily recognizable disorders. The characteristic morphologic change in muscle biopsy, ragged-red fibers (RRFs) provides an important clue to the diagnosis. Materials and Methods: Demographic data, presenting symptoms, neurological features, and investigative findings in 60 patients with ragged-red fibers (RRFs) on muscle biopsy, seen between January 1990 and December 2002, were analyzed. The authors applied the modified respiratory chain (RC) diagnostic criteria retrospectively to determine the number of cases fulfilling the diagnostic criteria of mitochondrial disease. Results: The most common clinical syndrome associated with RRFs on muscle biopsy was progressive external ophthalmoplegia (PEO) with or without other signs, in 38 (63%) patients. Twenty-six patients (43%) had only external ophthalmoplegia, 5 (8%) patients presented with encephalomyopathy. Specific syndromes were the presenting feature in 8 (13%), Kearns-Sayre syndrome (KSS) in 4 and myoclonus epilepsy with ragged-red fibers (MERRF) in 4. Myopathy was the presenting feature in 5 (8%) and 4 presented with infantile myopathy. Of the 60 patients, 18 (30%) had proximal muscle weakness. Two patients with KSS and one patient with myopathy had complete heart block necessitating pace making. When the modified RC diagnostic criteria were applied, only 26 (43%) patients had one other major criterion in addition to RRFs for the diagnosis of mitochondrial diseases. The remaining 34 (57%) patients with RRFs on muscle biopsy had only some clinical features suggestive of RC disorder but did not fulfill the clinical criteria (of the modified diagnostic criteria) for the diagnosis of mitochondrial diseases. Conclusion: In patients with clinical features suggestive of RC disorder, demonstration of RRFs on muscle biopsy helps in confirming the diagnosis of mitochondrial disease in only a subgroup of patients.

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Background: C1 and C2 nerve sheath tumors (NST) are unique in presentation, relationship to neighbouring structures and surgical approaches when compared to their counterparts in other regions of the spine. Aim: The strategies involved in the surgery for C1-C2 NST are discussed Setting and Design: Retrospective study. Methods: 21 patients with C1 (n=6) and C2 (n=15) NST were operated based on their position with respect to the cord i.e. anterior (4), anterolateral (10), posterolateral (5), and posterior (2). The tumors had extra- and intradural components in 20 patients; while in one, the tumor was purely intradural. The operative approaches included the extreme lateral transcondylar approach (3); laminectomy with partial facetectomy (5); laminectomy (11); and, suboccipital craniectomy and laminectomy (2). Results: Total excision was performed in 13 patients; while in 7, a partial extraspinal component, and in 1, a small intradural component were left, in situ. Thirteen patients showed improvement by one or more grades in the Harsh myelopathy score; 2 patients with normal power had significant decrease in spasticity; while 5 maintained their grade. One poor-grade patient succumbed to septicemia. Conclusions: C1-C2 NST may have exuberant growth due to the capacious spinal canal and the absence of a “true” intervertebral foramen at this level. Surgical approaches are determined by its relationship to the cord . A “T incision” on the dura, the partial drilling of the facets, sectioning of the denticulate ligament, rotating the operating table 15 to 30 degrees, and at times sectioning the posterior nerve roots are all useful adjuncts for facilitating access.

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Introduction: The endovascular modality of treatment is the preferred treatment modality for DAVF. In some circumstances, successful obliteration may not be possible by endovascular means, and such cases may require a direct surgical treatment. The authors report on their experience with the use of cranial base approaches in the treatment of deep and complex DAVF. Materials and Methods: Nine patients were treated between 1992 and 2003. There were six females and three males. Four patients presented with intracerebral hemorrhage, two with progressive myelopathy, two with tinnitus, and one with incapacitating chronic seizures. Four DAVF were tentorial, two transverse sigmoid, one craniocervical, one straight sinus, and one sphenoparietal. Endovascular embolization was attempted and unsuccessful in four cases, and was successful only as an adjunct to surgery in four others. All patients required the use of cranial base approaches to disconnect the fistula or resect the nidus. Results: Complete obliteration of the fistula was possible in all cases. Six-month follow-up results were obtained on seven patients where there was no evidence of recurrence. One postoperative temporal-lobe hematoma required surgical evacuation. One patient died two years postoperatively from an unrelated cause. Conclusion: This retrospective study demonstrates that complex DAVF can be successfully treated with the assistance of cranial base techniques.

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Background: Brain death is the absence of all cortical functions, including the brainstem. The apnea test (AT) is a necessary requisite to complete this diagnosis. Anecdotal reports describing hypotension and acidosis due to apnea test have been reported. However, there are few studies that evaluate complications or difficulties related to this procedure. Objective: To analyze medical problems associated with the apnea test. Methods and Patients: We analyzed clinical features, potential risk conditions, and problems in 129 brain dead patients during the apnea test. The diagnosis of brain death was made according to the American Academy of Neurology recommendations. Results: Clinical problems during the apnea test were detected in more than two thirds of patients, including: arterial hypotension (12%), acidosis (68%), and hypoxemia (23%). Four patients developed major complications, including: pneumothorax, cardiac arrest, bradycardia, atrial fibrillation and myocardial infarction. Conclusion: The apnea test is not an innocuous procedure. Complications during the AT are more common than reported and limit organ procurement for transplantation. Guidelines for performing the AT should be followed in order to avoid clinical complications.

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Objective: We present our experience of treating nine consecutive cases of rheumatoid arthritis involving the craniovertebral junction by atlantoaxial joint manipulation and attempts towards restoration of craniovertebral region alignments. Material and results: Between November 2001 and March 2004, nine cases of rheumatoid arthritis involving the craniovertebral junction were treated in our department of neurosurgery. Six patients had basilar invagination and ‘fixed’ atlantoaxial dislocation and three patients had a retroodontoid process pannus and mobile and incompletely reducible atlantoaxial dislocation. The patients ranged from 24 to 74 years in age. Six patients were males and three were females. Neck pain and spastic quadriparesis were the most prominent symptoms. Surgery involved attempts to reduce the atlantoaxial dislocation and basilar invagination by manual distraction of the facets of the atlas and axis. Reduction of the atlantoaxial dislocation and of basilar invagination and stabilization of the region was achieved by placement of bone graft and metal spacers within the joint and direct inter-articular plate and screw method of atlantoaxial fixation. Following surgery all the patients showed symptomatic improvement and restoration of craniovertebral alignments. Follow-up ranged from four to 48 months (average 28 months). Conclusion: Manipulation of the atlantoaxial joints and restoring the anatomical craniovertebral alignments in selected cases of rheumatoid arthritis involving the craniovertebral junction leads to remarkable and sustained clinical recovery.

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We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker’s variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Becker’s disease), has earlier been reported from India.

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We describe a 65-year-old male who presented with acute onset inability to read, without any difficulty in writing. A clinical diagnosis of alexia without agraphia was made and the patient was subjected to routine investigations including contrast MRI. MRI showed a ring-enhancing lesion in left occipital area, suggestive of neurocysticercosis supported by quantitative enzyme-linked immunosorbant assay from purified cell fraction of taenia solium cysticerci (PCF­-ELISA). Patient was treated with albendazole and prednisolone for one week. The clinical manifestation as well as the radiological finding resolved after treatment.

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Background: Testing of tendon (T) reflex is the basic method used in the diagnostic procedure of clinical neurology. Measurement of T reflexes precisely can be a valuable adjunct to clinical examination. Quantification of T reflexes may provide more accurate results. Aims: To analyze the effect of elbow position on biceps T reflex. Settings and Design: A self-controlled clinical trial of biceps T reflex testing at the Electrophysiology Unit of the Department of Physical Medicine and Rehabilitation. Methods and Materials: Biceps T reflex was obtained utilizing a hand-held electronic reflex hammer in 50 extremities of 25 healthy volunteers and the effect of elbow position (at 90°, 120° and 150°) on reflex response was evaluated. Statistical Analysis: Repeated-measures analysis of variance by the General Linear Model and Pearson correlation test procedures. Results: Onset latency was significantly shorter at 120° of elbow position. The maximum amplitude value of biceps T reflex was obtained at 90° of elbow position. Onset latency of the reflex correlated significantly with the height and arm length but not with age. Conclusions: The electrophysiological measurement of T reflexes is an easy and useful method in the quantification of reflexes, supplying more objective data. However, when performing T reflex studies, the position of the extremity should be taken into consideration to achieve more reliable results.

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Metastatic cancer must be considered as a possibility for intrasellar masses. Newer treatment modalities, such as gamma knife radiosurgery needs to be explored for these lesions. Three cases of intrasellar metastatic lesions were retrospectively reviewed. Presenting complaints, radiographic studies, operative procedure, and histopathological confirmation were recorded for each patient. All had an unknown primary malignancy prior to the presentation with the intrasellar lesion detected by magnetic resonance imaging (MRI). Presenting symptoms were diplopia with extraocular movement deficits in all patients. Transsphenoidal resection or biopsy was performed. Histopathological analysis revealed small cell carcinoma in two patients and plasmacytoma in one. All patients received postoperative radiation and/or chemotherapy. Survival following initial presentation was 2 months and 6 months for two of the patients; the third patient is alive at 2-month follow-up.

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An 11-year-old boy with acute lymphoblastic leukemia had received prophylactic cranial irradiation (1800 cGy /10 fractions) and intrathecal methotrexate. Five years later, he developed a glioblastoma multiforme in the right frontal region while the leukemia was in remission. It is possible that the glioma may have been induced by radiation and /or chemotherapy.

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Desmoplastic infantile ganglioglioma is a very rare supratentorial tumor occurring in the first two years of life. A five-month-old female infant presented with recurrent seizures, large head and loss of acquired milestones. Computerized Tomographic Scan of brain showed a large subarachnoid cyst with a solid intensely contrast enhancing tumor in the right temporoparietal region with severe degree of mass effect. Craniotomy and total excision of the tumor followed subsequently by subduro-peritoneal shunt for the extracerebral fluid collection was done. The child made good recovery. Histopathology revealed features of desmoplastic infantile ganglioglioma, viz., marked desmoplastic component with glial and neuronal elements. Immunohistochemistry showed positive staining for glial fibrillary acidic protein (GFAP) with areas of synaptophysin and chromogranin positivity. Desmoplastic infantile ganglioglioma is a rare tumor of infancy, which has excellent prognosis after total excision. No adjuvant therapy is required. This is the first Indian report of desmoplastic infantile ganglioglioma out of less than fifty cases reported worldwide.

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We report a case of carcinomatous meningitis diagnosed at autopsy that was clinically diagnosed as a case of Creutzfeldt-Jakob disease (CJD) because of rapidly evolving dementia. Pathological study revealed diffusely spreading carcinomatous meningitis, infiltrating into cortex along Virchow Robin space. Immunostaining for Prion protein was negative. Despite advances in clinical diagnosis, tissue diagnosis remains a pre-requisite for confirmation of CJD.

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Objective: A simple and rapid immunological assay method has been developed to demonstrate the presence of IgG antibodies to 30Kd protein antigen (30Kdpa) and culture filtrate protein (CFP) in the CSF of patients with Tuberculous meningitis (TBM). Method: Antibody capturing Enzyme Linked Immunosorbent Assay (ELISA) was standardized with CFP antigen of MTB. The IgG antibodies were assayed in CSF sample from TBM and non-TBM patients against 30 Kdpa. Results: The sensitivity and specificity of IgG antibodies for the diagnosis of suspected patients of TBM using 30 Kdpa was 80% and 91% respectively and the corresponding figures for CFP were 85% and 94% respectively. The sensitivity and specificity in two confirmed cases of TBM was 100%. Conclusion: The presence of this 30Kdpa in the CSF of suspected cases of TBM consistently would indicate that the selected protein band carries the candidate protein marker antigen, which is specific to M. tuberculosis and could be considered as a diagnostic marker for TBM.

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Background: The subject of subdural empyema (SDE) is reviewed on the basis of experience with 45 cases. Methods: Records of 45 patients with SDE were analyzed. There were 35 males and 10 females in the series. The majority of the patients were either infants (22.2%) or in their second and third decade of life (37.8%). For supratentorial SDE, craniotomy was done in 5 cases (11.1%). In six cases (13.3%) two burr-holes and in the rest of the cases multiple burrholes were done to evacuate the empyema. Craniectomy was done in three cases (6.7%), of which two had posterior fossa SDE. All patients received appropriate preoperative and postoperative broad-spectrum antibiotics. Results: There was good recovery in 35 (77.8%) patients, six patients (13.3%) had moderate disability, two patients (4.4%) had severe disability, and two (4.4%) died. Three patients who developed recollection at operation site required evacuation of residual SDE. Median follow-up was 3½ years (range 4 months to 3½ years). Conclusion: Emergent evacuation of SDE using multiple burr-holes and irrigation of the subdural cavity with saline for 24 hours results in a satisfactory outcome in cases with SDE.

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Primary malignant fibrous histiocytoma (MFH) of the central nervous system (CNS) is uncommon. We report cases of two young patients of MFH arising from the cranial meninges and involving the adjacent skull and scalp. There was infiltration of the brain in one case. Both the lesions were excised and primary scalp repair was performed.

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We report a case of a 12-year-old male child who presented with a gradual onset exopthalmos involving the left eye. The plain radiographs of the skull showed hyperostosis of the left orbital roof. The computerized tomography (CT) scan revealed an intradiploic orbital roof tumor with expansion of both the tables of the orbital roof. The tumor was completely excised by an extradural route using a basal frontal craniotomy. The histopathological diagnosis of the tumor was a psammomatous meningioma. A split calvarial frontal bone graft was used to reconstruct the orbital roof. The pathogenesis, radiological features and surgical technique involved in the management of intradiploic orbital roof meningioma are discussed and the relevant literature is reviewed.

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A case of a cervical intramedullary tumor is reported whose presentation was with disabling hyperhidrosis. The symptom resolved after surgical debulking of the tumor. Hyperhidrosis as a presenting manifestation of an intramedullary tumor has not been reported earlier.

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A 28-year-old male developed total external ophthalmoplegia following oral administration of phenytoin. The case is reported and its significance is discussed.

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