The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA.

Significant number of neurological patients in the pediatric age group have genetic and/or metabolic basis. It is difficult to remember details of each of them as their number is very large and the disorders are encountered infrequently. This impracticality necessitates the use of various websites and data base search. The internet has become a tool by which one can obtain and disseminate information. It has enhanced the medical person's ability to know at the earliest the developments in different medical specialities. Furthermore, these rare disorders are being recognized on the basis of specialized tests available only at selected centres which deal with few of these disorders. Our objective is to provide pediatric neurologists easy access to the expanding body of medical information and also to make them aware of the advancements in information technology, which is likely to facilitate telemedicine as a future consultancy service. Information about these diseases can also be facilitated by e-consultations.

Nineteen patients admitted with diagnosis of eclampsia in a large general hospital between 1996 - 1999, were analyzed. Eight patients were referred to neurologists for assessment and management. All these patients had recurrent generalized seizures. Five patients developed visual disturbance. Neuroimaging (CT and/or MRI) revealed symmetrical occipital lesions in all. One patient had a large pontine lesion. Seizure control was achieved in all with intravenous phenytoin. All patients recovered fully without any residual neurological deficit and their radiological brain lesions resolved completely, in all except one case. The neurological manifestations and neuroimaging features in cases of eclampsia have been reviewed. A brief note on the pathogenesis of the cerebral lesions is included and the controversial aspect of seizure control in eclampsia highlighted.

This study was done to determine the usefulness of the sagittal magnetic resonance image (MRI) in predicting the ease of resectability of pituitary adenomas operated through the transsphenoidal route. Tumors were graded according to Hardy's method and a new system proposed by us. In this system the amount of tumor above the line of vision (V-line) as seen on the sagittal MRI was estimated and correlated with the extent of excision assessed on the postoperative computed tomogram (CT). There were 7 Hardy's grade A (8.8%), 32 grade B (41.3%), 31 grade C (37.5%), 6 grade D (8.8%) and 2 grade E tumors (3.8%) among the 78 tumors studied. It was seen that most of the tumor volume was below the V-line in Hardy's grade A and B tumors. In grade C tumors 5 were < 25% above, 14 were 25-50% above and 12 were 50-75% above the V-line. A radical excision was possible in 15 of l9 grade C tumors in which < 50% of the tumor was above the V-line. However, only 5 of 12 with Hardy's grade C were radically excised when >50% of the tumor was above the V-line. In conclusion, Hardy's grade C tumors are not a homogenous group radiologically and using the V-line on MRI helps in predicting the case of respectability in a single stage.

The duration of anti epileptic drug therapy for single small enhancing CT lesions (SSECTL) presents a major dilemma. We studied the efficacy of short duration (6 months) antiepileptic drug therapy as compared to long duration (2 years) drug therapy. Seventy three patients presenting with seizures and showing SSECTL on cranial CT scans (plain and contrast) were randomized into group A (6 months therapy) and group B (2 years therapy). There were 47 patients in group A and 26 patients in group B. Patients were followed up for one year after withdrawal of anti epileptic drugs. CT Head (plain and contrast) was repeated after 3 months, or earlier in cases of recurrence to rule out reinfection. 53.2% in group A and 53.8% in group B showed complete resolution and were seizure free on one year follow up. Punctate residual calcification was seen in 46.8% in group A and 46.2% in group B. Eight patients (17%) in group A and three (11.5%) in group B had a recurrence. The difference in recurrence of seizure between the two groups was not statistically significant (p<0.77) in the calcified lesion subset. Since none of the patients in total resolution subset showed recurrence, the difference between calcified and total resolution subset was highly significant. The study shows that a short duration (6 months) AED therapy in patients with total resolution of lesion on follow up scan, may be adequate in comparison to those who have calcific speck as a residue. However, a longer duration of therapy in case of calcific group probably does not alter their chances of recurrence.

The study was conducted in 81 patients of epilepsy with small single enhancing CT (SSECT) lesion in brain to determine the clinical profile and duration of antiepileptic drugs (AEDs) treatment. The patients were randomly divided into group A (41 cases) and group B (40 cases). Group A patients were treated for 6 months and group B for 1 year with AEDS without cysticidal drugs. The most common mode of presentation was simple partial motor seizures with secondary generalization in both the groups. Repeat imaging of brain (CT/MRI) at 6 months showed disappearance of lesion in 82.94% in group A and 87% in group B, while persistence of lesion was present only in 4.87% in group A and 5% in group B. 87.81% patients in group A and 87.17% in group B were seizure free. The recurrence of seizure occurred in 12.19% cases in group A, and 12.82% in group B. 80% of these patients had calcified lesion in both the groups. This study reveals that SSECT lesion with epilpesy is a benign self-limiting disease. It also reveals that 6 months AED treatment is as effective as one year treatment. Patients having calcified lesion or persistence of lesion might require long term AED treatment.

Seven premature hydrocephalics presenting with lambdoid positional moulding (LPM) were reviewed. All were treated for hydrocephalus secondary to aqueductal stenosis, Dandy Walker Syndrome and infection. Parenchymal hemorrhage, intraventricular bleed, cortical atrophy, septal agenesis, cortical anomalies and subdural hygroma were the other common associations. These children did not show expected improvement in their higher mental functions at 6 months to 5.4 years of follow-up, following the management of hydrocephalus. It was not the LPM but associated intracranial anomalies, which were most probably responsible for their poor outcome. The differentiation from posterior plagiocephaly is also highlighted.

One hundred and six epilepsy patients were assessed over a period of 6 months for psychiatric morbidity, social support, stressful life events in previous year and disability. 45 patients (42.45%) had a psychiatric diagnosis. Organic depressive disorder headed the list (16.98%) followed by mild cognitive disorder (11.32%) and tobacco dependence (8.49%). There was no significant difference in the mean age, sex, mean education, age at onset of epilepsy, duration of epilepsy, psychiatric diagnosis, mean scores on social support scale, presumptive stressful life event scale and disability assessment schedule between different types of epilepsy. The difference in mean scores of presumptive stressful life events scale and disability assessment schedule between epileptics with and without psychiatric diagnosis was not statistically significant.

An attempt was made to correlate various types of visual field defects on automated perimetry with the findings of computed tomography in 44 patients of supratentorial tumors. All the patients above the age of 10 years were subjected to complete neurological examination including investigations like plain X-rays and CT scan, however, MRI and angiography were performed wherever indicated. Ocular examination particularly pertaining to neuro-ophthalmological profile was carried out with special emphasis on automated perimetry on Humphrey field analyser. The results indicated that automated perimetry was capable of reliably detecting and quantitating the visual field defects and thus established the location of the tumor in 72% patients when compared to CT scan. Hence, any patient with neuro-ophthalmic features should be subjected to automated perimetry for early diagnosis and probable location of intracranial space occupying lesion affecting visual pathways.

The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 2000 are being reported. There were 8 male and 6 female patients. The mean age was 24.42+/-11.18 years (range 4-40 years). Twelve patients could be categorized into well-defined syndromes, while two belonged to undefined group. In the defined syndrome categories, three patients had MELAS (mitochondrial encephalopathy, lactic acidosis and stroke like episodes), three had MERRF (myoclonic epilepsy and ragged red fibre myopathy), three cases had KSS (Kearns-Sayre Syndrome) and three were diagnosed to be suffering from mitochondrial myopathy. In the uncategorized group, one case presented with paroxysmal kinesogenic dystonia and the other manifested with generalized chorea alone. Serum lactic acid level was significantly increased in all the patients (fasting 28.96+/-4.59 mg%, post exercise 41.02+/-4.93 mg%). Muscle biopsy was done in all cases. Succinic dehydrogenase staining of muscle tissue showed subsarcolemmal accumulation of mitochondria in 12 cases. Mitochondrial DNA study could be performed in one case only and it did not reveal any mutation at nucleotides 3243 and 8344. MRI brain showed multiple infarcts in MELAS, hyperintensities in putaminal areas in chorea and bilateral cerebellar atrophy in MERRF.

A prospective randomized controlled study was carried out in 41 adult neurosurgical patients to find out the hemodynamic effects following scalp infiltration with 0.5% lignocaine with or without adrenaline. The patients were divided randomly into two groups. Group I patients (n=21) received 0.5% lignocaine with adrenaline (1:8,00,000) for scalp infiltration and group II patients (n=20) received 0.5% lignocaine without adrenaline. Continuous monitoring of ECG, heart rate and arterial blood pressure was carried out every minute for 20 minutes following scalp infiltration. Blood loss while raising the scalp flap was assessed by the neurosurgeon who was unaware of the study. No significant hemodynamic disturbances were observed in either group. However, Group I patients had significantly (p=0.001) less bleeding on incision. From this study, we conclude that 0.5% lignocaine with adrenaline (1:8,00,000) does not give rise to any cardiovascular disturbances during and following scalp infiltration. Rather, it minimises blood loss while raising the craniotomy flap.

The isoprenoid pathway related cascade was assessed in trisomy 21 and Huntington's disease. Membrane Na+-K+ ATPase activity, serum magnesium and ubiquinone were decreased while HMG CoA reductase activity, serum digoxin and dolichol levels were increased in both the disorders. There were increased levels of tryptophan catabolites (nicotine, strychnine, quinolinic acid and serotonin) and decreased levels of tyrosine catabolites (dopamine, noradrenaline and morphine) in both trisomy 21 and Huntington's disease. There was an increase in dolichol levels, carbohydrate residues of glycoproteins, glycolipids, total/individual GAG fractions and lysosomal enzymes in both disorders. Reduced levels of ubiquinone, reduced glutathione and free radical scavenging enzymes as well as increased lipid peroxidation products and nitric oxide were noticed in both the disorders. The role of hypothalamic digoxin and a disordered isoprenoid pathway in the pathogenesis of trisomy 21 and Huntington's disease is discussed.

Interictal EEG spike field potentials by visual and quantitative EEG analysis were studied in 17 patients with intractable localization related epilepsy. Quantitative EEG analysis was done using commercially available window based computer program (Focus) that displayed digitally acquired EEG data and performed spline mapping. Routine EEG localized 20 spikes. Fourteen spikes had excellent congruence between manual and computer generated mapping, 6 had good congruence, and 1 had fair congruence. This study clearly proves the usefulness of spline interpolation mapping technique in localizing and characterizing the epileptiform focus.

Several patients of Duchenne muscular dystrophy (DMD) do not demonstrate clinically remarkable calf hypertrophy. A new clinical sign visible behind the shoulders, which may be called 'valley sign', was tested for its utility in such cases as clinical diagnosis becomes difficult in these patients. Out of 142 DMD patients seen in the last 7 years, 12 were found to have inconspicuous calves. All the 12 patients had clinical, biochemical and/or genetic evidence of DMD. The new sign was examined by 3 independent observers in these 12 DMD patients and in 10 patients with other neuromuscular diseases. Eight DMD patients and none of the others showed positive sign. This signifies importance of this sign in the clinical diagnosis of DMD in those children in whom the calf muscle bulk is apparently normal.

Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

We report a rare case of glossopharyngeal schwannoma whose clinical presentation and the radiological work up suggested an acoustic schwannoma. The diagnosis was made at surgery, once attachment to ninth cranial nerve was seen. The clinical presentation, radiological features and surgical findings of the glossopharyngeal schwannoma are presented along with the review of literature.

Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with psychosis have been reported in the literature. A patient of schizencephaly, who had bipolar affective disorder is described. It has been compared with the earlier two reported cases of schizencephaly associated with pyschosis.

An unusual case of entirely infrasellar craniopharyngioma mimicking a clival chordoma is described. Only 22 cases of craniopharyngioma with nasopharyngeal extension have been reported in the literature. Of the reported cases, most were primarily intracranial with secondary downward extension; only two were thought to originate from an infrasellar location. The present case is another example of an entirely infrasellar craniopharyngioma, with extensive clival destruction, mimicking a clival chordoma. Relevant literature on the subject is reviewed.

A 55 year old male patient was operated on for a massive and vascular acoustic neurinoma in a sitting position. The tumor was completely excised. Post-operatively, the patient developed irritability and clinical features suggestive of contralateral cavernous sinus thrombosis. CT scan showed air within the dural walls of the cavernous sinus on the side of surgery. However, there was no radiological evidence of cavernous sinus thrombosis on the contralateral side. Cavernous sinus thrombosis as a post-surgery complication has not been reported. Air within the dural confines of the cavernous sinus has also not been observed or radiologically recorded in the literature.

Lateral sacral lipomyelomeningocele is a rare spinal developmental anomaly. In the case under report, the fat attached to the neural placode was blending with the gluteal fat externally. The cord was tethered at this level. Multiple bony anomalies and diastematomyelia were associated findings. A case of lateral sacral lipomyelomeningocele with excellent imaging detail provided by the multiplanar magnetic resonance (MR) scan is reported.

A rare case of a mid brain venous angioma with obstructive hydrocephalus is described. A dilated draining vein from the lesion in the aqueduct as the cause of the hydrocephalus is highlighted, and interesting features of the pathology of venous angiomas and associated cavernous hemangioma are described. The management of this interesting condition is discussed.

The radiological abnormalities reported in CNS tuberculosis and their pathological correlates are discussed. Focal tuberculous involvement of the CNS without formation of tuberculoma is rare. The MR features in this case were also distinctly unusual for CNS tuberculosis. Therefore, histological confirmation of all lesions thought to be a low grade glioma is mandatory.

A healthy 5 year old boy developed aphasia, attention disorder and hyperkinesia preceded by transient formed visual hallucinations and emotional outburst, immediately after a stressful event of forced separation from his father. EEG showed generalized epileptiform activity. He was diagnosed as Landau-Kleffner syndrome (LKS). CT and MRI of the brain were normal. SPECT showed left mesial temporal hypoperfusion. He improved on antiepileptics and ACTH.

A 62 year old diabetic and hypertensive male presented with sudden onset generalized chorea. Investigations revealed uncontrolled diabetes with absent ketones and normal serum osmolality. Achievement of euglycemia with insulin therapy abolished the involuntary movements completely within a day. The direct effect of hyperglycemia causing striatal neuronal dysfunction could be the pathogenesis of the chorea in our patient.

Cerebral venous thrombosis is a rare complication of ulcerative colitis. We report a case of 29 year old male who developed superior sagittal, left lateral and sigmoid sinus thrombosis secondary to ulcerative colitis. He was successfully treated with low molecular weight heparin and steroids.

The occurrence of bilateral extradural hematomas is an uncommon consequence of craniocerebral trauma and its incidence is variable in various studies ranging from 2-25%.1 We studied all cases of head injury brought to our institute over a period of 6 months and found the incidence of bilateral extradural hematomas to be 13.3%.

A case of left atrial (LA) myxoma presenting as pseudobulbar palsy, due to multiple cerebral infarcts, without any cardiac manifestations, is presented. LA myxoma is rare cause of embolization to CNS causing ischemic infarcts. Due to multiple CNS infarcts patient can present with varied clinical picture and pseudobulbar palsy is not a very common presentation. It was a real diagnostic dilemma before LA myxoma was diagnosed on echocardiography.