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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Botulinum toxins are, as a group, among the most potent neuromuscular toxins known, yet they are clinically useful in the management of conditions associated with muscular and glandular over-activity. Botulinum toxins act by preventing release of acetylcholine into the neuromuscular junction. While botulinum toxin type A is commonly available, different manufacturers produce specific products, which are not directly interchangeable and should not be considered as generically equivalent formulations. Type B is also available in the market. Each formulation of botulinum toxin is unique with distinct dosing, efficacy and safety profiles for each use to which it is applied. Botulinum toxin type A is the treatment of choice based on its depth of evidence in dystonias and most other conditions. Botulinum toxin type A is established as useful in the management of spasticity, tremors, headache prophylaxis and several other neurological conditions. Active research is underway to determine the parameters for which the type B toxin can be used in these conditions, as covered in this review. Botulinum toxin use has spread to several fields of medicine.

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Acute disseminated encephalomyelitis (ADEM) is an uncommon inflammatory demyelinating disease of the central nervous system. The true incidence of the disease in India is undetermined and is likely to be more frequent than reported, as the common antecedent events, exanthematous fevers and Semple antirabies vaccination, which predispose to ADEM, are still prevalent. The existing evidence suggests that ADEM results from a transient autoimmune response towards myelin or other self-antigens, possibly via molecular mimicry, or by non-specific activation of auto-reactive T cell clones. ADEM is a monophasic illness with favourable long-term outcome. Involvement of neuroaxis is variable and can be diffuse or multifocal and site restricted. Magnetic resonance imaging (MRI) is highly sensitive in detecting white matter lesions and the lesions described are rather extensive and subcortical in location. Involvement of the deep gray matter, particularly basal ganglia, is more frequent. Oligoclonal bands in CSF are usually absent. No therapy has been established by controlled trials in ADEM. Use of high-dose methylprednisolone, plasma exchange, and IVIG are based on the analogy of the pathogenesis of ADEM with that of multiple sclerosis (MS). Differentiation of ADEM from the first attack of MS is important from prognostic as well as therapeutic point of view. However, in the absence of biological marker, at times differentiation of ADEM from the initial presentation of MS may not be possible even by combination of clinical, CSF analysis, and MRI. This differentiation is more relevant to India where the incidence of MS is low.

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Nerve root cysts of the sacral region are generally asymptomatic but are known to cause neurogenic claudication. In this paper we present an elderly lady who presented with claudication, whose MR imaging showed a sacral cyst. She underwent lumbo-sacral laminectomy, partial excision of the cyst wall with plication. A review of the possible pathophysiology of such a lesion is discussed.

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We present an interesting case of sacral perineural cyst which caused chronic perineal pain. Perineural cyst is relatively rare, especially the sacral region. Chronic perineural pain is an often encountered problem that is difficult to evaluate and sacral perineural cyst may be the etiology of chronic perineal pain in many instances.

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In 1896, Joseph Babinski, a French neurologist, first described the best known neurologic eponym 'the Babinski sign'. This sign is characterised by dorsiflexion of the big toe and recruitment of the extensor hallucis longus muscle, on stimulating the sole of the foot. He has emphasised from the outset, the intimate relationship between this sign and the shortening movement in other leg muscles, which form the flexion synergy of the lower limb. The Babinski sign is not a new reflex, rather it is released as a result of breakdown of the harmonious integration of the flexion and extension components of the normal defence reflex mechanism, due to pyramidal tract dysfunction. A pathological Babinski sign should be clearly distinguished from upgoing toes that may not always be a part of the flexion synergy. This article reviews the Babinski sign in detail, focusing on the historical perspectives, role of pyramidal tract dysfunction and art of elicitation and interpretation. The significance of assessing this phenomenon in the entire leg, and the clinical clues that will help to dispel the myths regarding the Babinski sign, have been emphasised.

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Thirteen consecutive cases with symptomatic vertebral hemangiomas, managed during a five year period from January 1995 at the Christian Medical College and Hospital, Vellore, were analysed. Twelve patients had lesions in the thoracic and 1 in the sacral region. Eight patients had multiple level involvement. Seven patients had laminectomy and soft tissue component excision, of which one had intraoperative injection of absolute alcohol and one had postoperative radiotherapy. One patient had vertebrectomy and stabilization with preoperative embolization. One patient underwent only endovascular embolization. However, the focus of this communication is on 4 patients who underwent a CT guided percutaneous transpedicular injection of absolute alcohol into the affected vertebral body. In the surgical group, 6 patients had cavernous type and 2 patients had mixed type of hemangiomas. Ten patients improved on the Ranawat grade by the time of discharge. On the MRC grade, 11 patients had improved, one was grade 5 pre and postoperative, while one did not improve. Several options are available for the management of symptomatic vertebral hemangiomas and multiple modalities may have to be used for a single patient. CT guided percutaneous transpedicular injection of absolute alcohol shows promising results. However, long term follow up is mandatory.

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Non-functioning pituitary adenomas most commonly present secondary to mass effect and are classified according to their size and immunohistochemical staining. Local intrasellar mass effect may cause varying degrees of hypopituitarism. With extrasellar growth, neurological signs and symptoms develop. Appropriate therapy for these tumors requires close interaction across multiple disciplines. Trans-sphenoidal surgery offers safe and effective treatment in the overwhelming majority of patients with relatively low risk of new neurological and endocrinologic deficits. The multidisciplinary management of non-functioning adenomas, their diagnosis and therapeutic outcomes, is discussed.

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Vertebral artery dissection is an important cause of brain stem stroke, especially in the young. Dissections of carotid and vertebral arteries in neck account for about 20% of strokes in young compared with 2.5% in the elderly. Three patients of vertebral artery dissection related to indirect neck trauma are described. The first patient developed the symptoms while dancing, the second after a trivial fall and the third while he was on a dental chair. None of them had a direct severe neck trauma or concomitant risk factor like hypertension, connective tissue disease or migraine. Clinical symptomatology was similar in all the patients and included occipito-nuchal pain, headache and brain stem dysfunction chiefly in the posterior inferior cerebellar artery (PICA) territory. One of the patients also had associated ischaemic myelopathy. MRA and DSA confirmed dissection in all with a predominant steno-occlusive picture. Cases of so called trivial neck movement/torsion related dissection have been described previously but have not received any major importance. Usually classified as 'spontaneous' or 'traumatic', there is a possible ambiguity in literature about appropriate terminology. We emphasise that a history of such subtle precipitating events be taken while diagnosing young patients with brain stem strokes, to recognise this clinical entity. Although mechanisms are not absolutely clear, yet there seems to be an important relationship between arterial dissection and neck movements or minor trauma.

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The fragile X syndrome is the most frequent cause of inherited mental retardation. It is caused by a dynamic mutation: the progressive expansion of polymorphic (CGG)n trinucleotide repeats located in the promoter region of the FMRI gene at Xq27.3. The cloning of the FMRI gene and the elucidation of the molecular basis of the fragile X syndrome is of great importance for the diagnosis and understanding of this unusual type of mutation. Although extensively studied, the mechanism behind the transition from stable normal (CGG)n alleles to the carrier state (an unstable premutation) and from premutation to mutation is partially understood. The clinical diagnosis of fragile X mental retardation (FXMR) is not possible as dysmorphic features are subtle. Molecular diagnosis by Southern Blot is the confirmatory test that makes carrier detection and prenatal diagnosis possible. As the risk of recurrence of FXMR is high in the family and carrier relatives, an identification of fragile X positive children, and offering carrier detection and prenatal diagnosis to the families is very important. It is possible by screening mentally retarded children and adults even if there is no family history of mental retardation or typical behavioral or physical features associated with the fragile X phenotype. In this review we have discussed the method for the diagnosis and counseling of the families. The complexities due to premutation and the variable severity of manifestations in carrier females need to be understood while counseling fragile X families.

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BACKGROUND AND OBJECTIVE: Myasthenic crisis is a life-threatening complication of myasthenia gravis (MG) and when treated aggressively is associated with good outcome. MATERIALS AND METHODS: Retrospective study of case records of patients with episodes of myasthenic crisis. RESULTS: Twenty-one (22%) of the 95 patients with MG (9 with thymoma), experienced 23 episodes of myasthenic crisis, 3 (33%) in patients with thymoma. The crisis episodes occurred within 2 years of disease onset in 11 (52%) patients. Infection was the most common primary precipitant of the crisis occurring in 65%. The median duration of the crisis episode was 11 days (7-39 days), and the median neurological intensive care unit stay was 15 days (range 9-47 days). Fifteen (65%) episodes were treated with small volume plasma exchange (PE) and 8 (35%) episodes received intravenous immunoglobulin (IVIg). The time taken for disease stabilization, the median number of days for extubation, was 8 days (range 7-12) in the PE group and 10 days (range 7-39) in the IVIg group. Disease stabilization could not be achieved in one patient in the IVIg group. Ventilator-associated pneumonia (VAP) was the commonest complication, seen in 30%. Two (8%) of the 23 episodes of crisis were fatal, one resulting from VAP and septicemia, and the other due to crisis itself. All the 19 patients who survived to discharge had complete resolution of admission symptoms. CONCLUSIONS: In patients with myasthenic crisis, both therapeutic options, PE and IVIg, are equally effective in disease stabilization. To achieve good outcomes all efforts should be directed at decreasing the duration of intubation and also aggressively treating the associated medical complications.

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Parkinsonism plus syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson’s disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis. Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar involvement, alien limb phenomenon, apraxia and significant early cognitive dysfunction in some cases. Progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and dementia with Lewy body disease (DLB) are commoner disorders. Less frequent disorders are cortico-basal ganglionic degeneration (CBGD), frontotemporal dementia with chromosome 17 (FTDP-17), Pick’s disease, parkinsonian-dementia complex of Guam, Pallidonigral degeneration, Wilson’s disease and a rigid variant of Huntington’s disease. During the last 3 decades, major progress has been made in understanding PSP, CBGD and FTDP-17, which are tau disorders. MSA and DLB together with idiopathic Parkinson’s disease are called a-synucleinopathies. Recent studies show that the diagnosis of these Parkinsonism plus syndromes improves when strict diagnostic criteria are used. However, unusual presentations may pose a diagnostic challenge. The shortcomings of the current studies demand the need for further research to identify biologic markers that may allow earlier diagnosis, and understanding of the factors leading to a-synuclein or tau aggregation. Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed. This review focuses on the advances in the clinical, neuroimaging, pathologic, genetic and management aspects of these disorders.

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Organophosphorous compounds, the anticholinesterases, produce significant morbidity and mortality in India. Although exact estimates are not available, hospital based statistics suggest that nearly half of the admissions to emergency with acute poisoning are due to organophosphates. Following accidental or suicidal exposure, these anticholinesterases lead to three well defined neurological syndromes i.e. initial life threatening acute cholinergic crisis which often requires management in intensive care unit, intermediate syndrome in which cranial nerve palsies, proximal muscle weakness and respiratory muscle weakness are common and patients often require respiratory support and delayed organophosphate induced polyneuropathy. In addition to these three classical neurological syndromes following acute exposure and in some following low dose chronic exposure, several neurobehavioural changes have been observed and these have been termed together as 'chronic organophosphate induced neuropsychiatric disorders' (COPIND). Organo-phosphate compounds produce significant pesticide related illness in developing countries. There is, thus, a need to determine exact extent of the problem and to develop appropriate strategies to manage these cases with available resources in these countries.

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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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Mechanical articulated device to replace intervertebral disc as a treatment for low back pain secondary to disc degeneration has emerged as a promising tool for selected patients. The potential advantages are prevention of adjacent segment degeneration, maintenance of mobility as well as avoidance of all the complications associated with fusion. The short-term results have been comparable to that of fusion, a few mid-term results have shown mixed outcome, but information on long-term results and performance are not available at present. The rationale for lumbar disc arthroplasty, indications, contraindications, the various artificial devices in the market and the concepts intrinsic to each of them, basic technique of insertion, complications are discussed and a brief summary of our experience with one of the devices is presented.

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Non-neoplastic, non-inflammatory cysts of the central nervous system may cause symptoms because of pressure, rupture or secondary inflammation. A total of 145 cases of cysts were reviewed during a study period of 12 years. The clinical details and histological features were noted in all cases. During this period 53 epidermoid cysts, 16 dermoid cysts, 38 colloid cysts, 23 arachnoid cysts, 5 neurenteric cysts, 5 ependymal and glial cysts, 2 Rathke's cleft cysts and 3 unclassified cysts were encountered. The possible histogenesis is also discussed.

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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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Analysis of 893 patients of ischaemic stroke in the stroke registry of Nizam's institute of Medical Sciences, Hyderabad is presented. 16% of them had lacunar infarction. The mean age at presentation was 56.9 years and male to female ratio was 3.5:1. The common risk factors included hypertension(62%),diabetes(38%) and smoking(28%). Six percent had an underlying cardiac source of embolism and none had significant (>50%) extracranial carotid atherosclerosis. In 22% of patients, no obvious risk factors could be identified. The frequency of risk factors was similar in patients with lacunar and non- lacunar infarctions. However, patients with lacunar infarction had higher frequency of diabetes and absence of significant (>50%) extracranial carotid artery disease. Pure motor hemiparesis was the presenting syndrome in 45% patients. Ataxic hemiparesis and sensorimotor stroke accounted for 18% each and dysarthria-clumsy hand syndrome for 14%. This study suggests that the frequency, risk factors and clinical profile of lacunar infarction in our stroke registry is similar to most of the western stroke registries.

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Bilateral acute foot drop is reported in a 30-year-old healthy male. He presented with a 7-day history of sudden severe backache, radiating to both the lower limbs and 1-day history of sudden bilateral ankle weakness that progressed to bilateral foot drop within 6 hours. He also developed retention of urine. Investigations revealed a large central disc prolapse at L3-4 with significant canal stenosis at that level. Following surgery the patient had progressive improvement.

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Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male child. Although rare, it should be considered in the differential diagnosis of childhood muscle diseases. Histochemical staining is necessary for the diagnosis of this entity.

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Multiple factors influence the outcome of fungal infection of the central nervous system (CNS). The host and the pathogen in concert with drug delivery across the blood-brain barrier and drug activity are key factors in outcome. Drug costs can be prohibitively expensive. Drug toxicity with standard antifungal agents such as amphotericin B (infusion rate toxicity) can be reduced using simple techniques such as slower infusion and appropriate saline loading. Continuous infusion can allow relatively large doses of amphotericin B (up to 2 mg/kg/day, remaining below 0.08 mg/kg/hour) to be given with toxicity profiles comparable to expensive lipid formulations of amphotericin B. Dedicated peripherally inserted central catheters can remain in situ for weeks to months and are safe and relatively inexpensive. Correction of metabolic pathology in the case of mucormycosis and resolution of neutropenia are essential to effective treatment of filamentous fungal infections such as Mucor, Aspergillus and Scedosporium . The pharmacology and pharmacokinetics of the current major antifungal agents used to treat fungal infections of the CNS are reviewed. Tables that provide information about achievable CNS drug levels, antifungal susceptibilities and the likelihood of intrinsic drug resistance of significant fungal pathogens have been included to help the clinician with therapy. Treatment recommendations for Cryptococcal and Candida meningitis and for rhinocerebral infection with Mucor and Aspergillus have been included.

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Ubiquitously present fungi in the environment find a nidus in the human body and adopt its metabolic machinery to be in symbiosis or become pathogenic. Immunocompromised states like human immunodeficiency virus (HIV) / acquired immunodeficiency syndrome (AIDS), systemic neoplasia and organ transplantation have enhanced the frequency of fungal infections. High-risk behavior, IV drug abuse and air travel have led to the emergence of new fungal infections hitherto geographically localized. The pathology in the central nervous system (CNS) is dictated largely by the size of the fungus - the yeast forms, by virtue of their small size enter the microcirculation to cause meningitis and microabscesses, while hyphal forms invade the vasculature to manifest as large pale or hemorrhagic infarcts. The growth kinetics of fungi, the antigenic character of the capsule. the proteases secreted by the mycelial forms and the biochemical milieu in the host also determine clinical manifestations. A hospital-based analysis of the available information from India suggests that in the non-HIV patient population, hyphal forms like Aspergillosis and Zygomycosis are the most common pathogens, while yeast forms like Cryptococcus and Candida are the prime pathogens in cases of HIV/AIDS, the altered macrophage function acting in synergy with suppressed cell-mediated immunity. In Northeastern states, systemic infection by Penicillium marneffei is reported in association with HIV though CNS involvement is not recorded. Although fungal infections of the CNS are reported from various hospitals in India, studies are limited by non-availability of relevant microbiological studies and the reported prevalence data is biased by the surgical practices, availability of postmortem and microbiology and laboratory support. Detailed clinical and mycological investigations related to the interaction between the fungus and host environment is a fertile area of research to understand the basic pathogenetic mechanisms.

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The achievements of Indian neurosurgeons in different fields of stereotactic surgery over the past decades have been discussed. This covers diverse areas like Parkinson's disease, abnormal movements, cerebral palsy, spasticity, pain relief, and sedative and functional neurosurgery. Recently, technological advances have made stereotactic surgery useful in many fields like deep biopsies, minimally invasive surgery and radiosurgery. Apart from these areas, there is still a big scope for revival of surgery on deep structures of the brain, as was practised earlier. This will lead to newer knowledge about brain function and also give relief to many patients. The future is bright, provided Indian neurosurgeons show a paradigm shift in their thinking and bring out new ideas. Interaction with other scientific disciplines is necessary in the future if new knowledge has to be added or new techniques have to be devised.

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