1/4. Creutzfeldt-Jakob disease : report of 10 cases from North india.Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In india, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of mental health and neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of india in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 ( /- 7.32) years and there were 5 females and 5 males. myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 ( /- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/4. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.BACKGROUND: The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. methods: We screened the 26 coding exons of SCN8A in 151 patients with inherited or sporadic ataxia. RESULTS: A 2 bp deletion in exon 24 was identified in a 9 year old boy with mental retardation, pancerebellar atrophy, and ataxia. This mutation, Pro1719ArgfsX6, introduces a translation termination codon into the pore loop of domain 4, resulting in removal of the C-terminal cytoplasmic domain and predicted loss of channel function. Three additional heterozygotes in the family exhibit milder cognitive and behavioural deficits including attention deficit hyperactivity disorder (ADHD). No additional occurrences of this mutation were observed in 625 unrelated dna samples (1250 chromosomes). CONCLUSIONS: The phenotypes of the heterozygous individuals suggest that mutations in SCN8A may result in motor and cognitive deficits of variable expressivity, but the study was limited by lack of segregation in the small pedigree and incomplete information about family members. Identification of additional families will be required to confirm the contribution of the SCN8A mutation to the clinical features in ataxia, cognition and behaviour disorders.- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |
3/4. Hemiballism in a patient with probable multiple system atrophy.We report a patient with long-standing asymmetrical parkinsonism, cerebellar ataxia and dysautonomia, suggestive of multiple system atrophy (MSA). However, the patient also developed involuntary repetitive movements similar to ballic dyskinesias and mental deterioration. MRI revealed major involvement of both posterior fossa structures and basal ganglia. The case would be accommodated within a rubric of MSA widened to include involvement of the subthalamic nucleus and the medial part of the pallidum, pathology which may account for the ballic movements. Additionally the patient's cognitive and behavioural disturbances suggest an impairment of striato-prefrontal cortex loop.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/4. Complicated varicella zoster infection in 8 paediatric patients and review of literature.BACKGROUND: This is a study of complicated varicella zoster infection in paediatric patients. AIM: To find out the number of patients with such complications, the types of complications and their outcome. METHOD: This involved a retrospective review of the case records of 8 patients who presented to our unit over a 12-month period (Jan-Dec 96). All patients were previously well without any underlying immunodeficiency. Varicella zoster (VZ) infection was confirmed by VZ immunofluorescence from vesicular fluid. RESULTS: CMS complications accounted for 6 of the 8 cases. Of these, 3 presented with encephalitis, 2 with cerebella ataxia and 1 with aseptic meningitis and cerebella ataxia. Of the non-CNS cases, 1 presented with glomerulonephritis with superimposed staphylococcus infection of skin ulcers; the other had disseminated VZ infection with haemorrhagic vesicles, hepatitis, ileus with mesenteric adenitis and disseminated intravascular coagulation. OUTCOME: The patient with disseminated VZ infection and multiple organ involvement died 5 days after a stormy course. One patient with encephalitis who had status epilepticus for 2 hours had behavioural problems and poor memory. The remaining 6 patients had no sequelae. CONCLUSION: VZ infection usually a minor illness, can result in serious life-threatening complications in previously healthy patients.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |