Deletion analysis of spinal muscular atrophy in southern Indian population.

Background: Proximal spinal muscular atrophy (SMA) is a genetically heterogeneous disease with paresis and muscle atrophy due to loss of anterior horn cell function. The survival of motor neuron gene (SMN) and neuronal apoptosis inhibitory protein (NAIP) play a primary role. Both the gene homologues exist as inverted duplications on Chromosome 5q. The telomeric/functional (SMN1) and the centromeric (SMN2) copies differ from each other in eight nucleotides. The C-->T transition (at Codon 280) within Exon 7 of SMN2 causes disruption of an exonic splicing enhancer (ESE) and/or creates an exonic splicing silencer (ESS) leading to abnormal splicing and a truncated protein. Objective: To determine the molecular genetics of SMN1 and NAIP genes in SMA from southern India. Materials and Methods: In the present study, 37 patients from the neuromuscular disorders clinic of National Institute of Mental Health and Neurosciences were assayed for the deletions in the SMN1 and NAIP genes using PCR-RFLP methods. Results: Among the SMA Type I patients, 43% showed deletions of SMN1 and NAIP. In patients Type II SMA, 57% showed deletions of the SMN1 exons. Conclusion: Thus, deletions were found to occur in 47.8% of the Type I and II patients. Lower sensitivity of gene deletion study in clinically suspected SMA needs further study as clinical diagnosis of SMA is not gold standard. However, the results do correlate with other studies conducted in India.

Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: A novel observation from south India.

A 37-year-old gentleman presented with macrocephaly since early childhood and progressive impairment of motor and cognitive functions. Magnetic resonance imaging revealed extensive white matter involvement and frontotemporal subcortical cysts. Absent ankle jerk and abnormal nerve conduction study raised a possibility of associated peripheral neuropathy. Sural nerve biopsy was suggestive of dysmyelinating neuropathy. This report serves to expand the clinical spectrum of this rare leukodystrophy.

Diabetic nonketotic hyperosmolar state: interesting imaging observations in 2 patients with involuntary movements and seizures.

We report two patients of diabetic nonketotic hyperosmolar state presenting acutely with "self-limiting hemichorea - hemiballismus" and "generalized convulsive status epilepticus". CT scan in both the patients revealed a hyperdense nonenhancing basal ganglia. Magnetic resonance imaging brain of patient 1 showed it to be hyperintense on T1W image and iso-hyper intense on T2W image, minimally enhancing with contrast injection.

Sporadic onset Creutzfeldt-Jacob disease: interesting MRI observations.

We describe a 60-year-old woman with "probable" sporadic Creutzfeldt-Jacob disease (CJD) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and gait abnormality, excessive sleepiness and myoclonic jerks. Scalp EEG showed diffuse slowing of background activity to delta range and triphasic sharp wave complexes occurring periodically twice in one-second interval. Magnetic resonance Imaging (MRI) of brain revealed high signal intensity on T2 weighted image (T2WI) and fluid attenuated inversion recovery sequences in the caudate and putamen bilaterally. Diffusion weighted images showed bilateral symmetric hyperintense signals in the caudate and putamen. The role of MRI in the diagnosis of CJD is discussed.

Hepatic myelopathy: a rare complication following extrahepatic portal vein occlusion and lienorenal shunt.

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.

Emery dreifuss muscular dystrophy: a clinico-pathological study.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.

Neurological manifestations of Ehlers-Danlos Syndrome.

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.

Role of clinical neurophysiological tests in evaluation of erectile dysfunction in people with spinal cord disorders.

BACKGROUND: While erectile dysfunction is frequent among people with disorders of the spinal cord, the role of various clinical neurophysiological tests in assessment is not clear. AIMS: To study the role of clinical neurophysiological investigations in assessing erectile dysfunction among men with spinal cord disorders. SETTING: National Institute of Mental Health and Neurosciences, India. DESIGN: Survey. MATERIALS AND METHODS: Subjects with a score of 21 or less on the International Index of Erectile Function-5 were classified as with erectile dysfunction and with a score of more than 21 as without erectile dysfunction. Clinical neurophysiological studies done were Sympathetic Skin Response from limbs, posterior tibial sensory evoked potential, pudendal sensory potential and bulbocavernous reflex. STATISTICAL ANALYSES: Chi-square test. RESULTS: Among 40 subjects 26 had erectile dysfunction. The frequency of abnormalities in clinical neurophysiological studies were: pudendal sensory evoked potentials--16, posterior tibial sensory evoked potentials--26, bulbocavernous reflex--5, sympathetic skin response from sole--24 and, sympathetic skin response from palm--18. Significant associations were noted between erectile dysfunction and abnormal pudendal sensory evoked potentials (P=0.0479), and absent sympathetic skin response from palm (P=0.0279) and sole (P< 0.001). There was no correlation between erectile dysfunction and posterior tibial sensory evoked potentials (P=0.133) or bulbocavernous reflex (P=0.418). Sympathetic skin response from sole was most sensitive (80.8%) and had best positive (87.5%) and negative predictive (68.8%) values. The specificity of these three tests was 78.6%. CONCLUSIONS: Sympathetic skin response from the sole of the foot was the most sensitive and specific clinical neurophysiological test for erectile dysfunction in spinal cord disorders.

Cardiac involvement in Wilson's disease--an electrocardiographic observation.

BACKGROUND: Wilson's disease is known for its protean manifestations; however electrocardiographic abnormalities have not received much attention. AIM: To evaluate the various electrocardiographic (ECG) changes in patients with Wilson's disease. METHOD: The resting ECGs of 50 patients with Wilson's disease were systematically analyzed independently by three observers after excluding other causes that could induce ECG abnormalities. RESULT: Fifteen patients had at least one abnormality in the ECG. Sinus tachycardia was seen in eight and sinus bradycardia in six. Other abnormalities included: bifid P wave (1), ST elevation (2), ST depression (2), T inversion (4), ventricular premature contraction - VPC (1) and prominent U waves (1). QRS axis, PR interval, QRS complex, R/S amplitude ratio and QT interval were normal in all. Ventricular premature beats were not recorded in any. None had features of ventricular hypertrophy. There was no statistically significant difference in ECG abnormalities with reference to age, gender, duration of illness or treatment, serum copper or ceruloplasmin, and severity of neurological impairment. CONCLUSION: ECG abnormalities are not uncommon in Wilson's disease and are presumably related to an underlying cardiomyopathy due to deposition of copper in heart.

Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease. It is characterized clinically by a large head, mild neurological symptoms and a remarkably slow course of functional deterioration. The MRI is characterized by 'swollen white matter' and large symmetrical cystic changes in the cerebral hemispheres. MLC should be considered in the differential diagnosis of children with megalencephaly and leukoencephalopathy. We report a child with this disease and discuss the MRI and MRS features.

Hemiplegia: an initial manifestation of Japanese encephalitis.

A 7-year-old boy from an area endemic to Japanese encephalitis (JE) manifested with acute febrile illness, left hemiplegia and preserved consciousness during the prodromal phase of illness. The child developed features of encephalitis 48 hours after the onset of hemiplegia. IgM MAC ELISA for JE virus revealed high titers in the serum and cerebrospinal fluid suggestive of JE. MRI of the brain showed asymmetrical bilateral thalamic hyperintense lesions on T2 weighted image, considered diagnostic of JE. Hemiplegia during the prodromal phase or as an initial symptom of JE is rather unusual.

Functional MR imaging of hand motor cortex in a case of persistent mirror movement.

Persistent mirror movements are unwanted movements restricted to muscles homologous to those moved intentionally on the opposite body half. It is rarely observed and the functional MRI findings in a case of persistent mirror movement are described.

Stroke rehabilitation : traditional and modern approaches.

The recovery from stroke is often slow and incomplete, leading to partial or complete loss of locomotion, activities of daily living (ADL), cognition and communication skills. Aim of stroke rehabilitation is to reduce the disabilities and enable the patient to return to community, which is achieved by joint efforts of physicians, physiotherapists, occupational therapists, speech therapists, nurses, social workers and psychologists. Rehabilitation of a stroke patient begins as soon as any impairment is perceived and comprises traditional exercise programmes and neuropsychological approaches with the primary aim of restoring mobility of patient. It also deals with issues related to dysphagia, bowel and bladder care, shoulder dislocation, pressure sores, and prevention of deep venous thrombosis. A good rehabilitation programme helps in promoting natural recovery, preventing complications due to disabilities and adapting to disabilities.

MRI in subacute combined degeneration of spinal cord: a case report and review of literature.

A 56 year old man presented with acute onset posterior column and lateral spinothalamic tract dysfunction over a period of 15 days. MRI showed diffuse hyperintensity on T2WI involving the posterior columns. A diagnosis of subacute combined degeneration (SCD) of the spinal cord was considered and confirmed by laboratory findings. The patient showed complete recovery on B12 therapy. MRI lesion also compeletely resolved.

Pneumatic splints: fabrication and use in neurorehabilitation.

Asymmetrical tone and weakness in antagonistic muscles often result in misalignment of joint, contractures and deformities. Traditional static splints used to prevent these complications are expensive, have to be custom made and cannot be used when deformities are marked. Authors describe fabrication and use of pneumatic splints, which are economic, safe and easy to apply. These splints have wide application in the management of common medical problems in neurological rehabilitation like hypotension, edema, pain, spasticity and early deformities.

Vasculitic neuropathy in HIV infection: a clinicopathological study.

Vasculitis causing peripheral neuropathy may be the first sign of HIV infection. We report four such cases in whom the onset of peripheral neuropathy led to the detection of HIV infection. Two patients presented with features of mononeuritis multiplex, while the other two had a lumbosacral polyradiculopathy. A prior history of blood transfusion was forthcoming in one of the patients. Sural nerve biopsies in all the four cases and the muscle biopsy in two, histologically showed evidence of vasculitis. Immunohistochemically, the viral antigen was not demonstrable in any of the biopsies, but on electron microscope, virus-like particles were identifiable in the Schwann cell cytoplasm and the perivascular macrophages in one case. To the best of our knowledge, this is the only report that has documented the virus in the Schwann cells as well as the perivascular macrophages lending credence to the fact that these viruses are neurotropic as well as lymphotropic. Immunoglobulin deposits were not demonstrable in any of the cases, suggesting that direct viral invasion may have a role in the pathogenesis of peripheral nerve vasculitis.

Neurogenic heterotopic ossification : a diagnostic and therapeutic challenge in neurorehabilitation.

Heterotopic ossification (HO) is an important cause of restriction in range of movements and secondary motor disability following neurotrauma, orthopaedic interventions and burns. It has not received focussed attention in non-traumatic neurological disorders. In a prospective study of 377 patients, on medical problems in neurological rehabilitation setting, 15 subjects (3.97%) had neurogenic heterotopic ossification. Their clinical diagnosis was: transverse myelitis (7), neurotuberculosis (4), traumatic myelopathy (2) and stroke (2). Hip (10), knee (4) and elbow joints (1) were involved. The risk factors included urinary tract infection (15), spasticity (6), pressure sores (13) and deep venous thrombosis (DVT) (6). The initial diagnosis was often other than HO and included DVT (3), haematoma (2) and arthritis (2). ESR and serum alkaline phosphatase levels were elevated in all but one subject. The diagnosis of HO was established using X-rays, CT Scan and three-phase bone scan. Following treatment with non-steroidal anti-inflammatory drugs, the range of motion improved in only four patients. HO resulted in significant loss of therapy time during rehabilitation. High index of suspicion about this complication is necessary for early diagnosis and prompt intervention.

Ulnar nerve palsy due to axillary crutch.

A young lady with residual polio, using axillary crutch since early childhood, presented with tingling, numbness and weakness in ulnar nerve distribution of five months duration. Ulnar motor conduction study revealed proximal conduction block near the axilla, at the point of pressure by the crutch while walking. Distal ulnar sensory conduction studies were normal but proximal ulnar sensory conduction studies showed absence of Erb's point potential. These findings suggested the presence of conduction block in sensory fibers as well. Proper use and change of axillary crutch resulted in clinical recovery and resolution of motor and sensory conduction block.