Browsing by Author "Singh, Atampreet"

Now showing 1 - 3 of 3
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    Hereditary spastic paraplegia with a thin corpus callosum
    (PEDIATRIC RADIOLOGY, 2007)
    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.
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    Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature
    (JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2011)
    Boucher-Neuhauser 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.
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    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
    (ACTA RADIOLOGICA, 2010)
    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.