CARASIL - A Review of Patients from India.

Cerebral small vessel disease (CSVD) is a well-known cause of vascular dementia. Though a majority of these cases are sporadic, familial monogenic causes are being frequently identified as well. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive CSVD, caused by mutation in HTRA 1 gene on chromosome 10q (10q25.

Uncommon Presentation of Rasmussen's Encephalitis.

Rasmussen's encephalopathy (RE) is an uncommon neurological disease of inflammatory origin which is characterized by intractable focal epilepsy, progressive limb weakness, and cognitive deterioration. RE presenting as movement disorder like hemidystonia or hemichorea is a rare occurrence. The duration of prodromal stage of RE is usually in weeks or months.

Delayed Paraplegia in an Adult Patient With Spinal Cord Injury without Radiographic Abnormality of Dorsal Spine: A Lesson Learned.

Noncompressive myelopathy of lower dorsal spine secondary to trauma is a rare event. We report a case of delayed paraplegia in a patient with a history of road traffic accident. The X-ray of dorsolumbar spine did not show any abnormality.

Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy - Case report.

Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping revealed trisomy of chromosome 21.

A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody.

Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes, limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative.

Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease.

Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration.

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India.

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.

Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature.

SYMPTOMATIC NEUROSYPHILIS (NS) CAN HAVE VARIED SYNDROMIC PRESENTATIONS: Meningitis, meningovascular and parenchymatous involvement. Non-tabetic syphilis affecting the spinal cord is rare and only sporadic case reports have been published. The variant of meningomyelitis known as Erb's paraplegia refers to patients of spinal syphilis with very slow progression over many years and predominantly motor signs.

Rare presentation of botulism with generalized fasciculations.

Botulism is a dreadful, life-threatening, neuroparalytic disease caused by gram positive bacteria Clostridium botulinum. Food borne botulism has been described following ingestion of preformed toxins in canned food or food products that have not been preserved properly. Botulinum toxin acts on neuromuscular junction and manifests as ophthalmoplegia, bulbar and limb weakness, and autonomic features along with respiratory compromise.

Cadmium exposure: health hazards of silver cottage industry in developing countries.

In countries such as India, the silver jewelry industry is an important cottage industry. Silver is mixed with cadmium and then used to make silver jewelry. During this process there is a formation of cadmium fumes, and the workers inhale the fumes.

IgM anti-GM1 antibody titers in patients with monomelic amyotrophy.

Background: Monomelic amyotrophy (MMA) is a benign motor neuron disorder, which particularly affects young people and the etiology is still unknown. Gangliosides are located on the outer surface of motor neurons. Anti-GM1 antibodies have been found to be elevated in multi-focal motor neuropathy with conduction block and other neurological diseases, which may have therapeutic implication.

Pulmonary rehabilitation in patients with chronic obstructive pulmonary disease.

Background: Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality in India. Drug treatment alone does not optimize therapy. Pulmonary rehabilitation has been found to improve the physical efficiency of COPD patients.