Cor triatriatum sinistrum presenting as cardioembolic stroke: an unusual cause of adolescent hemiparesis.

Cor triatriatum sinistrum is a rare congenital cardiac malformation, in which the left atrium (LA) is divided into two distinct chambers by a fibromuscular membrane. Classically, the proximal (upper or superior) chamber of the LA receives pulmonary venous connections, whereas the distal (lower or inferior) chamber contains LA appendage and true atrial septum containing fossa ovalis. The distal chamber is in continuity with the atrioventricular valve, while the two chambers communicate through a defect in the membrane. The hemodynamics of cor triatriatum sinistrum are similar to that of mitral stenosis due to obstructive property of membrane. The majority of reported cases of cor triatriatum occur in infants with symptoms of pulmonary venous obstruction, with adult cases being rare. Herein, we describe an unusual case of cor triatriatum in a 17-year-old boy who presented for the first time with embolic cerebral infarction with left hemiparesis.

Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.

Boucher-Neuhäuser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration. The authors report a family (brother, 22 years and sister 24 years) with late-onset BNS (>10 years). They had subnormal intelligence; the cerebellar ataxia was progressive over 2 years with early functional dependence. Puberty was attained in a brother with testosterone injections, while the girl had primary amenorrhoea. There were no associated visual complaints. They both had diffuse periventricular white-matter hyperintensities in cerebral cortex and diffuse cerebellar atrophy in the MRI.

Role of three-dimensional fluid-attenuated inversion recovery (3D FLAIR) and proton density magnetic resonance imaging for the detection and evaluation of lesion extent of focal cortical dysplasia in patients with refractory epilepsy.

BACKGROUND: Focal cortical dysplasia (FCD) is often associated with epilepsy. Identification of FCD can be difficult due to subtle magnetic resonance imaging (MRI) changes. Though fluid-attenuated inversion recovery (FLAIR) sequence detects the majority of these lesions, smaller lesions may go unnoticed while larger lesions may be poorly delineated. PURPOSE: To determine the ability of a specialized epilepsy protocol in visualizing and delineating the extent of FCD. MATERIAL AND METHODS: We compared the imaging findings in nine patients with cortical malformation who underwent routine epilepsy MR imaging as well as a specialized epilepsy protocol. All imaging was done on a 1.5T MR unit. The specialized epilepsy protocol included 3D FLAIR in the sagittal plane as well as proton density (PD) and high-resolution T2-weighted (T2W) images in the transverse plane. RESULTS: In all nine patients, the specialized protocol identified lesion anatomy better. In three patients in whom routine MRI was normal, the specialized epilepsy protocol including 3D FLAIR helped in identifying the lesions. One of these patients underwent surgery, and histo-pathology revealed a cortical dysplasia. In one patient, lesion characterization was improved, while in the remaining patients the extent of the FCD was more clearly demonstrated in the 3D FLAIR and PD images. Statistical analysis of images for cortical thickness, cortical signal intensity, adjacent white matter abnormalities, and gray-white matter junction showed significant statistical difference in the ability of 3D FLAIR to assess these aspects over conventional images. PD images were also found superior to the routine epilepsy protocol in assessment of cortical signal, adjacent white matter, and gray-white matter junction. CONCLUSION: Specialized MRI sequences and techniques should be performed whenever there is a high suspicion of cortical dysplasia, especially when they remain occult on conventional MR protocols. These techniques can also be used to define lesion extent more precisely.

Early resective surgery causes favorable seizure outcome in malformations of cortical development.

PURPOSE: We analyzed consecutive cases of a large cohort of the spectrum of malformations of cortical development (MCDs) including focal cortical dysplasias (FCDs) who underwent presurgical evaluation through our epilepsy program from January 2000-December 2010. We analyzed factors predicting surgical candidacy, predictors of seizure outcome and reasons for deferring surgery. METHODS: 148 patients with MCD underwent detailed presurgical evaluation and 69 were operated. MCD was diagnosed based on characteristic findings in MRI and re-confirmation by histopathology in operated patients. Post-operative seizure outcome of non-operated and operated patients were assessed every 3 and 12 months and yearly intervals. Multivariate analysis and backward step-wise logistic regression analyzed factors predicting seizure outcome. Kaplan-Meier analysis predicted seizure-free survival rates. RESULTS: 66.67% patients were seizure-free and aura-free at last follow-up. On multivariate logistic regression, the predictors of seizure freedom in operated MCDs were completeness of resection (odds ratio 8.2; 95% CI 1.43-64.96, p=0.01), shorter duration of epilepsy (odds ratio 1.19, 95% CI 1.02-1.39, p=0.02), and absence of spikes in post-operative EEG at one year (odds ratio 4.2; 95% CI 2.52-16.6; p<0.002). In FCD sub-group, shorter duration of epilepsy (11.1 versus 16.1 years, p=0.03), absence of secondary generalized seizures (p=0.05), absence of spikes in post-operative EEG on seventh day (p=0.009) and one year (p=0.002) were associated with favorable seizure outcome. CONCLUSION: Majority of patients with MCD and refractory epilepsy when operated early remains seizure-free. Shorter duration of epilepsy is the single most important pre-operative variable and absence of spikes in post-operative EEG, predicts a long-term favorable seizure outcome.

Hereditary spastic paraplegia with a thin corpus callosum.

We report a 15-year-old boy with autosomal recessive complicated hereditary spastic paraplegia with a thin corpus callosum (HSP-TCC). The involvement of the corpus callosum was characteristic with the genu and body predominantly affected with relative sparing of the splenium. HSP-TCC is being increasingly recognized over a wider geographical area than earlier believed. We now report a case of HSP-TCC from the Indian subcontinent.