Context: The importance of brainstem auditory evoked potential monitoring in reducing hearing loss during microvascular decompression for trigeminal neuralgia is now accepted. However the extent of the changes in the pattern of these potentials and the safe limits to which these changes are relevant in reducing postoperative hearing loss have not been established. Aims: The aim of this study is to quantify these changes and relate these to the postoperative hearing loss. Settings and Design: This study was done at the Walton Centre for neurology and neurosurgery, Liverpool, United Kingdom. The study was designed to give a measure of the change in the wave pattern following microvascular decompression and relate it to postoperative hearing loss. Materials and Methods: Seventy-five patients undergoing microvascular decompression for trigeminal neuralgia had preoperative and postoperative hearing assessments and intraoperative brainstem auditory evoked potential monitoring. Statistical Analysis Used: Chi-square tests. Results: It was found that the wave V latency was increased by more than 0.9ms in nine patients, eight of whom suffered significant postoperative hearing loss as demonstrated by audiometry. It was also seen that progressive decrease in amplitude of wave V showed progressive hearing loss with 25% loss when amplitude fell by 50 and 100% loss when wave V was lost completely. However most of the patients did not have a clinically manifest hearing loss. Conclusions: A per-operative increase in the latency of wave V greater than 0.9 ms and a fall of amplitude of wave V of more than 50% indicates a risk to hearing.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord resulting in progressive muscle weakness and atrophy. Aims: The molecular analysis of two marker genes for spinal muscular atrophy (SMA) i.e., the survival motor neuron gene (SMN) and the neuronal apoptosis inhibitory protein gene (NAIP) was conducted in 39 Indian patients with clinical symptoms of SMA. Out of these, 28 showed homozygous deletions and the phenotypic features of these SMA patients were compared with the corresponding genotypes. Settings: A tertiary care teaching Hospital. Design: This is a prospective hospital based study. Materials and Methods: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene. Results: Exons 7 and 8 of SMN and NAIP (exon 5) were homozygously deleted in 73% of SMA I and 27% of SMA II patients. SMN exon 7 and 8 deletions without NAIP deletions were seen in 27% of type I SMA and 46% of SMA type II patients. Two patients of type III SMA showed single deletion of SMN exon 7 along with 27% of SMA type II patients. Conclusion: With the advent of molecular biology techniques, SMN gene deletion studies have become the first line of investigation for confirmation of a clinical diagnosis of SMA. The findings of homozygous deletions of exons 7 and/or 8 of SMN1 gene confirms the diagnosis of SMA, even in patients with atypical clinical features. Deletions of NAIP gene were mainly seen in severely affected patients, hence is useful for predicting the prognosis.

Background and Aims: In view of the prevailing controversy about the role of Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in stroke and paucity of studies from India, this study has been undertaken to evaluate MTHFR C677T gene polymorphism in consecutive ischemic stroke patients and correlate these with folic acid, homocysteine (Hcy) and conventional risk factors. Settings and Design: Ischemic stroke patients prospectively evaluated in a tertiary care teaching hospital. Materials and Methods: Computerized tomography proven ischemic stroke patients were prospectively evaluated including clinical, family history of stroke, dietary habits and addictions. Their fasting and postprandial blood sugar, lipid profile, vitamin B12, folic acid and MTHFR gene analysis were done. Statistical Analysis: MTHFR gene polymorphism was correlated with serum folic acid, Vitamin B12 and Hcy levels; family history of stroke in first-degree relatives; and dietary habits; employing Chi-square test. Results: There were 58 patients with ischemic stroke, whose mean age was 50 (4-79) years; among them, 10 were females. MTHFR gene polymorphism was present in 19 (32.8%) patients, 3 were homozygous and 16 were heterozygous. Both serum folate and B12 levels were low in 29 (50%) patients and Hcy in 48 (83%). Hypertension was present in 28 (48%) patients, diabetes in 12 (21%), hyperlipidemia in 52 (90%), smoking in 17 (29%), obesity in 1 (1.7%) and family history of stroke in first-degree relatives in 13 (22.4%). There was no significant relationship of MTHFR gene polymorphism with folic acid, B12, Hcy levels, dietary habits and number of risk factors. Vitamin B12 level was low in vegetarians ( P <0.003). In 3 patients with MTHFR TT alleles, Hcy was elevated in all 3, low folic acid in 2 and family history of stroke in 1 patient. Conclusion: MTHFR gene polymorphism was found in one-third of patients with ischemic stroke and was insignificantly associated with higher frequency of elevated Hcy.

Aims and Objectives: The alignment of upper and lower cervical spine is presumed to be closely interrelated and the knowledge of this is mandatory when performing occipito-cervical and upper cervical fusions. The aim of this study was to establish standard values for upper and lower cervical spine alignment in the Indian population. Materials and Methods: Five hundred eighteen asymptomatic volunteers (261 males and 257 females) between 12 and 80 years of age underwent lateral radiography with their neck in the neutral position. Angles for occipital to 2nd cervical (Oc-C2), 1st to 2nd cervical (C1-C2) and sagittal alignment of 2nd to 7th cervical vertebrae (C2-C7) were measured. Statistical analyses were performed using a statistical package SPSS 10 for windows and the students 't' test. Results: The mean Oc-C2, C1-C2 and C2--C7 angles were 14.66 + 9.5°, 25.6 + 7.9° and 16.8 + 12.7° in male, while same angles in female were 15.59 + 8.26°, 26.9 + 6.8° and 9.11 + 10.4° respectively. Weak statistically significant negative correlation was observed between the measured angles of the upper (Oc-C2 and C1-C2) and lower (C2-C7) cervical spines, which means if the lordosis of the occiput and upper cervical spine increases (if the Oc-C2 angle increases), the alignment of lower cervical spine becomes kyphotic and vice versa. This negative correlation was stronger between the Oc-C2 and C2-C7 angles than between the C1-C2 and C2-C7 angles. Conclusions: Relationship between alignment of the upper and the lower cervical spine should be taken into consideration when performing cervical fusion.

Background: Few studies have compared cognitive functions in multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and Parkinson's disease (PD). Aim: To compare the results of cognitive function tests in the three diseases and examine their relation with the severity of parkinsonism. Settings and Design: Clinic-based open prospective study. Materials and Methods: Global cognitive function tests and tests specific for frontal lobe functions were used in 25 cases of each disease. UPDRS III was used to measure the severity of parkinsonism. Statistical Analysis: ANOVA was done for group comparisons, followed by t-test for independent samples with Bonferroni correction. Pearson's correlation test was done to assess the relation between severity of parkinsonism and cognitive functions. Results: The severity of parkinsonism was worst in PD followed by PSP and least in MSA. Patients with PSP exhibited the worst performance in both sets of cognitive tests. Even though patients with MSA did better than PD in global function tests, they performed worse than PD in some frontal function tests. There was a negative correlation between severity of parkinsonism and scores in cognitive tests in the MSA group but not in others. Conclusions: Global and frontal dysfunction was worst in PSP. The frontal dysfunction in MSA was more severe than PD, correlated with the severity of parkinsonism and was worse in clinically probable than possible cases of MSA. The severity of cognitive dysfunction in these diseases may be related to the distribution and extent of pathological changes affecting the striato-frontal circuits in them.

Background: Hyponatremia develops in approximately a third of patients with aneurysmal subarachnoid hemorrhage (SAH). Studies have been conflicting about the association between hyponatremia and cerebrovascular spasm (CVS). Aims: To investigate whether hyponatremia can signal the onset of CVS. Settings and Design: Retrospective chart review of all patients with SAH treated at a tertiary-care university hospital from January to May 2002. Materials and Methods: 106 patients were included in the study. Serum sodium levels were recorded from days 1 to 14 of hospitalization. Hyponatremia was defined as serum sodium level <135 meq/l and a fall in sodium level of >4 meq/l from the admission sodium level. The presence of CVS was determined by transcranial doppler sonography. Patients were assigned to one of four groups based on the presence or absence of CVS and hyponatremia. Statistical Analysis: Student's t-test was used for comparison of means. A logistical regression model was constructed and odds ratios (OR) were calculated. Results: 41 patients developed hyponatremia and 44 developed CVS. Among the 41 with hyponatremia, 22 (54%) had evidence of CVS, whereas among the 65 patients without hyponatremia, 22 (34%) had evidence of CVS ( P =0.023). Among those with hyponatremia, the mean sodium drop was 7.9 meq/L in those with CVS compared to 7.0 meq/L in those without CVS ( P = 0.068). More than half of those with hyponatremia and CVS (13/22) developed hyponatremia at least a day before CVS was diagnosed. Conclusion: In patients with SAH, hyponatremia is associated with a significantly greater risk of developing CVS and may precede CVS by at least one day.

Background and Aims: We present our Institutional experience with intracranial hemangioblastomas. Settings and Design: A retrospective study. Materials and Methods: This study included all patients of intracranial hemangioblastomas admitted in our institution over a period of 11 years from January1992 through June 2003. Results: There were a total of 69 patients (45 males and 24 females). The average age at presentation was 34.5 years. The tumor was located in the cerebellar hemispheres, vermian and brainstem regions in 42 (60%) patients, 19 (28%) patients and 8 (12%) patients, respectively. Hydrocephalus was seen in 48 (69%) patients. Thirty-three patients underwent CSF diversion procedures prior to surgery on the tumor. All except one underwent definitive surgery. The mortality was 8 (11%). Sixty eight patients underwent surgery on the tumor. The follow-up ranged from 1 month to 11 years. Fifteen patients developed recurrent lesions. Conclusion: Lifelong surveillance is necessary in cases with hemangioblastomas to identify recurrences especially in those patients having VHL syndrome.

Background and Aims: To investigate whether there were changes in the sympathetic skin responses (SSR) in the limbs with complex regional pain syndrome (CRPS) type I in hemiplegic patients. Setting: A physical medicine and rehabilitation center in Turkey . Materials and Methods: Sympathetic skin responses were evaluated in 69 stroke patients (41 with CRPS and 28 without CRPS) and 20 healthy volunteers. SSR were recorded on the paretic and healthy hands after stimulation of the ipsilateral median nerve. Patients' ages ranged from 33 to 77 years, with a mean of 60.0 ± 12.9 years. Results: The SSR were obtained in all patients with CRPS, whereas SSR was absent in 9 of 28 patients with hemiplegia who did not have CRPS after stimulation of the plegic side and the difference was statistically significant ( P =0.023). SSR amplitudes were increased at the hemiplegic limbs in patients affected by CRPS compared to individuals unaffected; this group difference was statistically significant ( P =0.014). The mean amplitude of the SSR in the advanced stage of CRPS was greater than lower stage and the difference was statistically significant ( P =0.035). Conclusion: Our results suggest that SSR can be obtained in stroke patients with CRPS even in the early stages of CRPS. SSR acquirability and amplitude increase as the stage of the disease advances. As an electrophysiologic technique, SSR may be used in the evaluation of the sympathetic function in hemiplegic patients and also in the diagnosis of CRPS and in monitoring of its treatment.

Background: Leprosy is one of the most common causes of peripheral neuropathy, perhaps closely matched by diabetic neuropathy. Patterns of peripheral neuropathy in leprosy can be varied, which may include mononeuropathy, mononeuritis multiplex and symmetric polyneuropathy. Cranial nerves, especially facial and trigeminal nerves, are also commonly involved in leprosy. Aims: To find out the pattern and spectrum of cranial nerve involvement in a consecutive series of patients with leprous neuropathy. Settings and Design: A retrospective review of patients admitted with leprosy to the Neurology Department of a tertiary care center. Materials and Methods: All consecutive patients admitted during an 8-year period (1995-2003) and diagnosed to have leprosy were included. They were clinically evaluated to determine the frequency and pattern of cranial nerve involvement. Results: About 18% (9/51) of the leprosy patients seen during that period had clinical evidence of cranial nerve involvement. Facial and trigeminal nerves were the most commonly affected (five and four patients respectively). Conclusions: Cranial nerve involvement is common in leprosy, which emphasizes the need to carefully examine them. Also, one should exclude leprosy in patients presenting with isolated cranial neuropathies.

Objective: To study the efficacy of splinting and oral steroids in the management of carpal tunnel syndrome (CTS). Design: Prospective, randomized, open-label, clinical and electrophysiological study with 3-month follow-up. Materials and Methods: Forty patients with CTS were randomly divided into splint group (N-20), wearing splint in neutral position for 4 weeks; and steroid group (N-20), who received oral prednisolone 20 mg/day for 2 weeks followed by 10 mg/day for 2 weeks. Clinical and electrophysiological evaluations were done at baseline and at 1-month and 3-month follow-up. Independent 't' test and paired 't' test were used for statistical analysis. Outcome Measures: Primary outcome measure was the symptom severity score and functional status score. Secondary outcome measures were median nerve sensory and motor distal latency and conduction velocity. Results: At the end of 3 months, statistically significant improvement was seen in symptom severity score and functional status score in both groups ( P <0.001). Median nerve sensory distal latency and conduction velocity also improved significantly in both the groups at 3 months. Improvement in motor distal latency was significant ( P =0.001) at 3 months in steroid group, while insignificant improvement ( P =0.139) was observed in splint group. On comparing the clinical and electrophysiological improvement between the two groups, except for the functional status score, there was no significant difference at 3-month follow-up. Improvement in functional status score was significantly more in steroid group ( P =0.03). Conclusion : There was significant improvement in both groups, clinically as well as electrophysiologically, at 3 months. On comparing the efficacy of the two treatment methods, except for the functional status score, there was no significant difference between the two groups.

Severe childhood autosomal recessive muscular dystrophy (SCARMD) is characterized by a severe Duchene muscular dystrophy like phenotype. Most such cases represent alpha or gamma sarcoglycanopathies. Mental subnormality is very uncommon and other central nervous system deficits have not been documented in patients with SCARMD. We report a brother and sister with the SCARMD phenotype, who additionally had static mental subnormality and choreiform movements. Work-up for sarcolgycan genes, dystrophin gene and known causes of mental retardation and chorea was normal.

Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis. The most striking clinical feature is that of the orofacial and lingual movement abnormalities leading to severe feeding difficulties. Maintenance of proper nutrition in ChAc is a challenge. We report on a case of ChAc in a 32-year-old male in whom dramatic weight loss due to orolingual dyskinesia was the major consequence of the disease. This case report warrants more attention to the impact of orolingual dyskinesia on nutritional status in patients with ChAc.

A 19-year-old gentleman presented with slowly progressive spastic paraparesis, 2 years after the therapeutic lienorenal shunt for portal hypertension secondary to cirrhosis and portal vein occlusion. After 2 years of initial evaluation, the motor functions had not worsened further. He did not have any obvious clinical or EEG features of hepatic encephalopathy. Other causes for myelopathy were ruled out. Contribution of portal vein occlusion to portosystemic shunting has not been reported previously in patients with 'hepatic myelopathy.' This uncommon complication needs to be considered in patients with shunt surgery for relieving portal hypertension.

Hashimoto's encephalopathy is a rare complication of autoimmune thyroiditis not associated with thyroidal function decline. We report a 50-year-old man presenting with lower motor neuron symptoms evolving over 3 years and changes in behavior associated with attentive and cognitive impairment occurring in the last few months. Memory deficits, emotional instability, marked dysarthria, mild symmetric weakness of the lower extremities, and fasciculations were the most striking clinical features. EEG was diffusely slow, cranial MRI revealed multiple subcortical white matter lesions, CSF protein was slightly elevated, electromyographic recordings showed acute and chronic denervation, and extremely high TPO antibody titers were found in the serum. Hashimoto's encephalopathy and lower motor neuron disease were diagnosed. As repeated high-dose intravenous methylprednisolone administration followed by oral tapering improved both central nervous system and lower motor neuron symptoms, the question was raised whether there was a common autoimmune pathogenesis of both clinically distinct diseases.

We report two patients diagnosed to have familial amyotrophic lateral sclerosis (FALS). A 40 year old lady had progressive weakness and atrophy of the limbs and bulbar palsy from the age of 39 years and with electrophysiological evaluation was confirmed as definite ALS. Her mother had presented in 1978 at the age of 42 years with symptoms and signs of ALS. The other patient was a 43 year old male with rapidly progressive weakness, wasting and spasticity of the limbs and bulbar palsy of 4 months duration and with electrophysiological evidence of diffuse anterior horn cell involvement. His father also had onset of illness at 43 years of age with gradually progressive spasticity and atrophy of the extremities followed by bulbar palsy. In the first instance the mother had a duration of illness of 8 years while in the second the father lived for 15 years after the onset of illness.

We present a rare case of skull base chordoma of extraosseous intradural type that presented as acute intratumoral hemorrhage. Surgical removal of the tumor was accomplished using a skull base approach.

Asymmetrical, simultaneous multiple cranial nerve palsies and mild signs of peripheral neuropathy in diabetic patients may cause difficulties in diagnosis as they are relatively rare. A case of a 55-year-old diabetic woman who developed simultaneous right VII and left III, IV, VI cranial nerve palsies with spared pupils is presented here. We also discuss the role of intravenous immunoglobulin (IVIG) in the management of this condition and suggest that simultaneous multiple cranial palsies may have a good response to IVIG treatment.

The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e., between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.

Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes the calvarium and/or dura. We present a case of ACC in an infant whose mother was exposed to a teratogenic drug (Methimazole - an antithyroid drug) during pregnancy. This case report is presented to highlight the steps to successful management. Definitive full thickness scalp cover at the earliest avoids secondary infection, eschar formation and exsanguination.

Desmoplastic fibroma is a benign but locally aggressive tumor arising usually from the mandible, pelvis and long bones with a potential for recurrence. We report a case of desmoplastic fibroma of the frontal bone in a young male.