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.

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.

No abstract

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.

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.