Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X- linked recessive disorders with the former following a severe and fatal course and the latter a milder clinical profile. Accurate diagnosis of these disorders, therefore, becomes crucial for patient counselling and management. A number of molecular diagnostic criteria for DMD/BMD have evolved with the growth of molecular biology. These include multiplex PCR, southern blot analysis, denaturing gradient-gel electrophoresis, western blot analysis, immunocytochemistry, CA repeat analysis, entangled solution capillary electrophoresis, heteroduplex analysis, single strand conformation electrophoresis and direct sequencing. RNA finger-printing has the potential to lead the present day molecular diagnostics of muscular dystrophies to a new dimension hitherto unexplored.

The case report of a family with coexistence of schizophrenia, systemic malignancy, Parkinson's disease, rheumatoid arthritis and syndrome X is described. The coexistence of malignant transformation, neuronal degeneration, immune dysfunction and psychiatric manifestation have been extensively documented in literature. It is possible that a central dysfunction in neuroendocrine and immune integration may play a role in the pathophysiology of these diseases. Elevated levels of an endogenous sodium-potassium ATPase inhibitor, digoxin, a steroidal glycoside, has been reported in syndrome X. The human hypothalamus is the principal source of digoxin. Serum digoxin level and RBC sodium-potassium ATPase were measured in the members of the index family and8 groups of patients with CNS gliomas, Parkinson's disease, motor neuron disease, CNS vasculitis, multiple sclerosis, primary generalised epilepsy, schizophrenia and the acquired immunodeficiency syndrome. Digoxin, being a isoprenoidal compound, its synthesis was assessed by HMG CoA reductase activity. The levels of serum digoxin and HMG CoA reductase activity were found to be increased in the members of the index family and all the 8 groups studied with a corresponding reduction in RBC sodium-potassium ATPase activity. The role of hypothalamic digoxin in the pathogenesis of these diseases is discussed. A digoxin model for hypothalamic regulation of neuronal transmission, endocrine function, immunity and cytodifferentiation is proposed.

Stereotactic techniques were used to place a catheter into cystic intracranial lesions in 11 patients. These patients had 4 types of cystic lesions : suprasellar craniopharyngiomas (4), benign epithelial cysts (2), suprasellar arachnoid cysts (3) and tumour cysts (2). Seven patients had subgaleal reservoir placement and four had cystoperitoneal shunt. There was no procedure related morbidity. In all the patients, a post procedure CT scan revealed accurate placement of the catheter. The mean follow-up period was 23 months. During this period, 3 of the 7 patients with reservoir placement had become symptomatic and had to undergo a percutaneous aspiration of the cyst through the subgaleal reservoir. One patient required repositioning of a displaced catheter, and one patient received bleomycin through the reservoir after aspiration of the craniopharyngioma cyst. Eight patients improved and are leading independent lives. Stereotactic catheter placement is a minimally invasive, safe, accurate and simple procedure which can be used in the management of selected cystic masses in the brain. Connection of the catheter to a reservoir or a shunt ensures access to the cyst in case of reaccumulation of its contents and provides continuous drainage of its contents.

Forty patients of chronic renal failure (CRF) and five patients of acute on chronic renal failure (ACRF) were evaluated clinically and electrophysiologically for involvement of muscles. EMG studies showed features suggestive of denervation myopathy in 10 of patients of CRF only. Histopathological study of muscle biopsies, done in 25 patients with CRF, showed constellation of histopathological features suggestive of denervation myopathy in 48 and toxic myopathy in 24. In five patients with ACRF,denervation myopathy was observed in 60 and toxic myopathy in 20 cases on histopathological examination.

Forty adult patients (age >14 years) of generalised convulsive status epilepticus were studied prospectively. All the patients were subjected to detailed history, neurological examination and baseline investigations including haemogram and metabolicprofile. CT scan was carried out in 26 patients. All the patients were treated with intravenous diazepam and phenytoin. The age range of the patients was 14-71 years with a mean of 32.75 ? 15.78. There were 24 males and 16 females. Twenty six patients had generalised tonic clonic seizures while 14 had partial seizures with secondary generalisation. Symptomatic epilepsy was the commonest type of epilepsy and was seen in 25 patients. The diagnosis of cryptogenic and idiopathic epilepsies was made in 11 and 4 patients respectively. Drug withdrawl precipitated status epilepticus in 5 patients and systemic infection in one. The mean frequency of seizures was 4.70??1.83/hour, mean duration was 1.78???l.0l/minutes and cumulative convulsive time 25.27??21.50 minutes. Twelve patients had focal neurologic deficits. Papilloedema was seen in four cases only. CT scan was abnormal in 18 of 26 patients. All patients except one showed immediate response to therapy. Seven patients had recurrence of seizures after initial response to diazepam and phenytoin. Low serum level of the drug at 12 hours had a significant correlation with recurrence of seizures. Ataxia was the most common side effect of phenytoin therapy. Serious side effects e.g. hypotension and respiratory depression were seen in 4 and 2 patients respectively. Two patients expired during 48 hours follow up.

Clobazam, a 1-5 benzodiazepine, was used as add-on in the management of intractable epilepsy prospectively from 1993-1996. Forty patients who satisfied the defined inclusion and exclusion criteria with minimum one year follow-up were included. Therewere 25 male and 15 female patients, which included 15 children (37.5 ) and 25 adults (62.5 ). They had epilepsy for a mean period of 145.3 ? 106.9 months. Majority had uncontrolled complex partial seizures with or without secondary generalization. 55had single type of epilepsy and 45 had multiple type of seizures. Clobazam (Frisium) was added as an adjuvant in the dose of 5-30 mg. Patients were followed regularly to evaluate its efficacy and toxic effects. Follow up ranged from 12-66 months with amean of 27.2 ? 13 months. Twelve patients (30) were totally free from seizure, 16 (40) had more than 75 reduction in frequency and 6 (15) had no effect. Tolerance was seen in 7 ( 17.5) patients. This could be managed by increasing the dosage in a step-wise manner. Three female patients complained of increase in weight which has not been reported in the literature so far. We could reduce the dose of other antiepileptics in all and stopped one AED in 8 patients. Clobazam is recently introduced in the Indian market and relatively very economical compared to other newer antiepileptic drugs and effective as first line add-on drug in the management of refractory epilepsy in both adults and children.

Continuous or intermittent deviation of head seen in spasmodic torticollis (ST) may result in abnormalities of blink reflex or brain stem auditory evoked potentials (BAEP). The present study was undertaken on 10 patients of ST and an equal number ofage and sex matched healthy controls. BAEP showed no difference in the two groups. R1 and contralateral R2 of blink reflex were similar in the patients and the controls. R2 contralateral to torticollis was also similar to controls but R2 ipsilateral to torticollis was prolonged in ST patients (32.28??1.91 msec) as compared to controls (30.96??1.53 msec) (p<0.05). Our findings suggest brainstem dysfunction in some patients with spasmodic torticollis.

Five cases (three male and two female) of dorsal spinal haemangioma in the age group of 16-43 years, presenting as compressive myelopathy, are reported. Three of them had vertebral haemangioma with extradural extension. One patient had isolated extradural haemangioma and one had extramedullary intradural haemangioma. One female patient presented during the seventh month of gestation and one case had associated cyanotic congenital heart disease. All except one had slowly progressive evolution of complaints. The duration of symptoms ranged from two weeks to six months.

The authors report an unusual case of extensive osteomyelitis of cranial vault and skull base as a complication of chronic mastoiditis in a 19 year old girl. The diagnosis was confirmed by bone biopsy which revealed osteomyelitic changes and large bacterial colonies. The unusual features of this case is discussed along with review of relevant literature.

A case of a histologically proven dorsally situated spinal enterogenous cyst of the cervical region is reported with a brief review of literature on the subject.

A 20 year old male after being struck by lightening remained quadriplegic for several months and finally almost fully recovered. His weakness was due to extensive peripheral nerve injury (involvement of plexuses, radicles and peripheral nerve trunks) as evident by clinical and neurophysiological studies. He also showed many well known medical complications of lightening injury viz. acute renal failure, hypercalcaemia, autonomic dysfunction and cataract.

We report a 47 year-old woman with Wegener's granulomatosis presenting with an atypical onset of multiple symmetric cranial neuropathies. The diagnosis was established by clinical and laboratory data. To our knowledge, this is the first case of Wegener's granulomatosis presenting with bilateral multiple symmetric cranial neuropathy.

A case of central neurofibromatosis with various associated neurological abnormalities is reported. Apart from symptoms of eighth nerve involvement the patient had a hypotonic, hyporeflexic quadriparesis. Radiology revealed scoliosis, an intramedullary spinal tumour, bilateral acoustic neurinoma, tectal glioma and hydrocephalus. In view of the rapid progression of the disease process a palliative shunt procedure was carried out without any definitive surgery. The various ravages of nervous system in NF2 are discussed along with a brief review of literature.

Two cases of haemorrhage during cranial computed tomography (CT) occurring during the enhancement phase of CT examination immediately after the administration of intravenous contrast medium are reported. In both cases, the preceding unenhanced scansshowed evidence of haemorrhage. The risk of aneurysmal rupture as a result of retching and vomiting induced by intravenous contrast is stressed. Judicious use of contrast enhanced CT is suggested in patients with suspected aneurysmal subarachnoid haemorrhage.

Adult presentation in diastematomyelia is very rare. The common location is from first to third lumbar vertebrae. Lumbosacral adult diastematomyelia is even rarer. A 42 years male with lumbosacral diastematomyelia is described. Combined myelographic-CT scan study demonstrated lumbar canal stenosis and bony spur attached to vertebral bodies of the fifth lumbar and first sacral vertebra. Surgery with decompression of neural elements and removal of bony spur resulted in complete relief of symptoms. Detailed case representation and a review of 74 cases of adult diastematomyelia is reported.

Diastematomyelia is an uncommon developmental anomaly, usually presenting in childhood. Adult presentation is rare. We report three patients of diastematomyelia, becoming symptomatic in adulthood. These constituted 17 of all adult patients with tethered cord syndrome. One patient had a nonprogressive childhood deficit and two had a cutaneous stigmata in the lower back. In one patient, the symptoms were precipitated following trauma. All patients were investigated by MRI which demonstrated the diastematomyelic lesion. One had an associated intraspinal enterogenous cyst. We recommend prophylactic surgery in patients with diastematomyelia, once the diagnosis is established. The pathogenesis of adult diastematomyelia is discussed.

A rare case of third ventricular choroid plexus papilloma is reported. A two year male child presented with clinical features of raised intracranial pressure, meningismus, gait ataxia and abnormal head tremors. Abnormal head tremor is an extremely uncommon presenting feature of a choroid plexus papilloma of third ventricle.

A 60 year old man presented with chronic backache of six months duration, sciatica of three months duration, weakness of both lower limbs of two months duration, urinary retention and bowel incontinence of one month duration. Neurologically, he hadparaplegia with motor and sensory level at L1 dermatome. X-ray lumbar spine showed spondylotic changes with reduction of L1/L2 disc space.Myelography revealed an intradural mass. A diagnosis of intradural disc herniation was made and confirmed by surgery.However, neurological status remained unchanged at the time of discharge.

A male patient had been operated in 1990 at a different hospital for a suprasellar mass lesion causing progressive blindness. At exploration, the mass was felt to be inflammatory in nature with arachnoiditis and hydrocephalus. Deep yellow staining of tissues round the mass was recorded at the time of first surgery. The patient was readmitted in 1996 for progressive visual failure, ataxia, mental changes and deafness. MRI confirmed persistence of suprasellar mass and showed the characteristic findings of superficial siderosis of CNS. On reexploration, the mass had multiple vessels over the walls and contained xanthochromic fluid. It was excised and histologically examined to be an epidermoid with a cyst. The patient developed chest infection, became drowsy and died. The MRI picture, the CSF finding and the yellow staining of tissue confirmed the diagnosis of superficial siderosis of the CNS, which was first thought of after seeing the diagnostic MRI. The cause of the superficial siderosis was recurrent bleeding from the tumour.

Intracranial epidermoids account for 0.2 to 1.8 of all brain tumours. We report an epidermoid cyst in an unusual location - the brain stem. At this site safe and adequate resection implies decompression of the cyst contents and removal of the non-adherent cyst capsule.