Pattern of cerebellar perfusion on single photon emission computed tomography in subcortical hematoma: A clinical and computed tomography correlation

Background: There is paucity of studies evaluating the role of asymmetry index (AI) on single photon emission computed tomography (SPECT) studies in patients with intracerebral hemorrhage (ICH). Aim: To evaluate cerebellar perfusion in ICH employing SPECT study and correlate with clinical and CT scan findings. Setting and Design: Tertiary care teaching hospital. Materials and Methods: A total of 29 patients with ICH were subjected to neurological examination including Glasgow Coma Scale (GCS) and Canadian Neurological Stroke Scale (CNS). Clinical features of raised intracranial pressure and herniation were noted. On CT scan, ICH location, volume, ventricular extension and midline (ML) shift were noted. On SPECT, cerebral and cerebellar perfusion was measured semiquantitatively and AI calculated. Outcome was defined at 3 months into poor and good. Results: Fourteen patients had putaminal and 15 thalamic hemorrhages. Their mean age was 59 years. The mean GCS score was 10 and CNS score 2.8. Hematoma was large in five, medium in 16 and small in eight patients. ML shift was present in 15 and hematoma extended to ventricule in 16 patients. On SPECT, cerebellar AI significantly related to ML shift but not with size of hematoma. AI was low in patients with ML shift. Outcome was related to GCS score, ML shift, size of hematoma and cerebellar AI. Conclusion: In acute stage of ICH, cerebellar AI is lower in patients with more severe stroke having ML shift

R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease

There is paucity of the studies on mutations in neurologic Wilson disease (WD) in India. We studied H1069Q, R778L, I1102T mutations in 26 patients with neurologic WD from 25 families in north India. The basis of diagnosis of neurologic WD was clinical, Kayser-Fleischer (KF) ring, and ceruloplasmin. Data collected included: family history, clinical characteristics, laboratory data, ultrasound findings, magnetic resonance imaging (MRI) findings, and severity of the disease. DNA was isolated from venous blood and subjected to H1069Q, R778L, and I1102T mutation study. The age range was 5-41 years. Family history was present in 8 patients. The H1069Q, R778L, and I1102T mutations were absent in all the patients and in 16 parents and siblings. Severity of the illness was related to the extent of MRI changes but not with age of onset and hepatic involvement. H1069Q, R778L, and I1102T mutations were absent in our patients, which may be due to genetic and ethnic heterogeneity and further studies are required