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 (10q25.3-q26.2) in homozygous or compound heterozygous form. Indian literature has been quite scant with very few case reports of CARASIL, and only three familial cases were confirmed with mutational analysis. Testing facilities of HTRA 1 genetic mutation are now more widely available in India than before, and should be encouraged for appropriate patients. This would help in diagnosing, prognosticating and avoiding unnecessary further investigations and medications for these patients. We herein review the Indian scenario and our previously reported experiences of this disorder, while adding a case from north India with a befitting clinical history, family history, neuroimaging and documented HTRA1 genetic mutation.

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. Prolonged prodromal stage like in years is rarely reported. Magnetic resonance imaging (MRI) is a good biomarker in RE and it also suggests the sequential progression of disease. Here we report two cases of RE, one presenting with hemidystonia and other case with unusually prolonged prodromal stage duration of 7 years. In spite of severe hemi-atrophy of brain in second case response to immunomodulators was dramatic.

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. Magnetic resonance imaging of dorsolumbar spine was performed which showed the presence of central T2-weighted hyperintensities from D10-D11 to D12-L1 level. No associated bony injury was documented, and the integrity of the spinal canal was maintained. The patient was managed conservatively with bed rest, and steroids were given. However, the patient did not show any signs of improvement after 1 month of follow-up.

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. Very few cases had been described in literature of late-onset myoclonic epilepsy in DS. This is first case report from India and our aim is to propose the inclusion of this entity in the spectrum of progressive myoclonic epilepsies but still more cases are yet to be found.

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. Cerebrospinal fluid and blood was positive for GAD-65 antibodies. Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome, cerebellar ataxia and palatal myoclonus. This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.

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. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.

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. Primary optic atrophy occurs twice as frequently in tabes dorsalis as in other types of NS. We describe here a case of a 32-year-old truck driver who presented with Erb's paraplegia with primary optic atrophy. This clinical overlap in NS is extremely rare and to our knowledge is the first case report of its type.

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. The literature and case reports regarding neuroparalytic botulism in India are sparse. Generalized fasciculations have been rarely reported in literature as manifestation of food borne botulism. We present a 35-year-male presenting with usual features described, but with prominent generalized fasciculations which are rare, and which rapidly responded to treatment.

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. AIM: To evaluate IgM anti-GM1 antibody titers in patients of monomelic amyotrophy. SETTING AND DESIGN: prospective controlled study. MATERIALS AND METHODS: Forty-six clinically and electrophysiologically diagnosed cases of MMA were assessed for IgM anti-GM1 antibody titers by enzyme-linked immunosorbent assay (ELISA) method and compared with titers in healthy controls, cases of amyotrophic lateral sclerosis (ALS) and acute inflammatory demyelinating polyneuropathy (AIDP). Titer of 800 units was taken as upper limit of normal (Buhlmann Laboratories AG, Switzerland). STATISTICAL ANALYSIS USED: one-way ANOVA. RESULTS: The mean age of 46 patients with MMA was 24.5 (+/- 7.3) years, with male female ratio of 44:2. The mean age of 19 healthy controls was 24.1 (+/- 3) years with male: female ratio of 18:1. Five (26%) individuals in the healthy control group, 22 (48%) patients of MMA, four (30%) of ALS and five (50%) of AIDP had high titers of IgM anti-GM1 antibody (P> 0.05). CONCLUSIONS: Although larger number of patients with MMA had higher IgM anti-GM1 antibody titers, the difference was not statistically significant from titers of healthy individuals and of patients in the ALS and AIDP group.

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. Cadmium is a neurotoxic and nephrotoxic heavy metal, and there are no national policies to prevent exposure to such chemicals. We will present a case of cadmium induced peripheral neuropathy, nephropathy, and decreased bone density.

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. Therefore, we evaluated the effect of domiciliary pulmonary rehabilitation programme in patients of COPD. METHODS: Forty patients of stable COPD having severe airflow obstruction were included in the study. They were divided into control and experimental groups randomly. Rehabilitation included walking, breathing exercises, postural drainage, controlled coughing and changes in life style activities. Exercises of 30 minutes duration were performed at home twice daily for four weeks supervision. Six-minute walking distance, forced expiratory volume in one seocond (FEV1) and various indices of chronic respiratory disease questionnaire (CRDQ) were measured in both experimental and control groups before and after completion of the study. RESULTS: In the experimental group, after four weeks, the mean (+/- SD) difference in six-minute walking distance, dyspnoea, mastery, fatigue and emotion scores were 54.2 (26.7) meters, 0.96 (0.26), 0.89 (0.44), 0.90 (0.40) and 0.91 (0.32) respectively. Changes in all these parameters were statistically significant (p < 0.001) as compared to the control group. There was no significant change in FEV1. CONCLUSION: It was concluded that domiciliary pulmonary rehabilitation for four weeks results in significant improvement in the quality of life and exercise tolerance, even without improvement in FEV1.