Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene (SPG11) on Chromosome 15

From the Department of Neurology and Neurosurgery (MR, PP, MAP, PC, JCM)
Journal of neuroimaging: official journal of the American Society of Neuroimaging (Impact Factor: 1.73). 12/2008; 19(1):52 - 60. DOI: 10.1111/j.1552-6569.2008.00327.x


ABSTRACTBACKGROUND AND PURPOSEA thin corpus callosum on magnetic resonance imaging (MRI) characterizes a type of autosomal recessive disorder with progressive spastic paraparesis and cognitive impairment. Known as Hereditary Spastic Paraparesis with Thin Corpus Callosum (HSP-TCC), it has been associated with mutations of the SPG11 gene. No other specific MRI findings have been reported.METHODS
We studied with MRI four patients from three families with HSP-TCC who had identified causal mutations in the SPG11 gene.RESULTSIn all individuals studied the region of the forceps minor of the corpus callosum, corresponding to the genu fibers, appeared bright on T2-weighted and dark on T1-weighted images. On axial sections, the frontal horn region bore a remarkable resemblance to the ears of a lynx, with the areas of abnormal signal reminiscent of the tufts of hair crowning the tips of the ears of this animal. Less specific findings included a box-shape appearance of the calloso-caudate angle and diffusely increased signal in the hemispheric white matter.CONCLUSION
Abnormal MRI signal in the region of the forceps minor of the corpus callosum is a characteristic early imaging finding of HSP-TCC with SPG11 mutations.

Download full-text


Available from: Joseph Masdeu
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The objective of our study was to assess the visibility of the fetal corpus callosum and soft palate on standard single-shot fast spin-echo (SSFSE) imaging versus real-time (RT) SSFSE imaging. Part 1 of the study was a prospective analysis using a questionnaire rating the ease of use and utility of RT imaging. Part 2 of the study was a retrospective analysis of 69 fetal MRI studies with RT sagittal midline imaging of the head, face, or both. Standard and RT SSFSE image sets were de-identified, randomized, and shown to three pediatric neuroradiologists who rated on a 5-point scale whether the images were midline and how well they could see and characterize as normal the corpus callosum and secondary palate. The imaging results were correlated with postnatal diagnosis. Statistical methods included the Wilcoxon's signed rank test, McNemar chi-square test, and analysis of variance. Prospectively, the RT SSFSE technique was ranked as excellent in all the categories assessed. Retrospective analysis showed that the midline view obtained with RT SSFSE imaging was helpful in diagnosing the normal and abnormal secondary palate, allowing improved diagnosis of 19 (30.6%) of 62 cases of normal palate and four (57.1%) of seven cases of abnormal palate, when compared with the standard SSFSE technique. RT SSFSE imaging improved the ability to diagnose a normal corpus callosum on the midline view in 13 (27.6%) of 47 fetuses of 20 or more weeks gestational age. The RT SSFSE technique can aid in obtaining images in planes that are critical to the evaluation of a moving fetus, particularly when a midline sagittal view of the corpus callosum or palate is required. The use of this technique may lead to improved diagnosis of CNS or orofacial abnormalities in fetuses.
    Full-text · Article · Jan 2007 · American Journal of Roentgenology

  • No preview · Article · Jul 2009 · Neuromuscular Disorders
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: These European Federation of Neurological Societies guidelines on neuroimaging of motor neuron diseases (MNDs) are designed to provide practical help for the neurologists to make appropriate use of neuroimaging techniques in patients with MNDs, which ranges from diagnostic and monitoring aspects to the in vivo study of the pathobiology of such conditions. Literature searches were performed before expert members of the Task Force wrote proposal. Then, consensus was reached by circulating drafts of the manuscript to the Task Force members and by discussion of the classification of evidence and recommendations. The use of conventional MRI in patients suspected of having a MND is yet restricted to exclude other causes of signs and symptoms of MN pathology [class IV, level good clinical practice point (GCPP)]. Although the detection of corticospinal tract hyperintensities on conventional MRI and a T2-hypointense rim in the pre-central gyrus can support a pre-existing suspicion of MND, the specific search of these abnormalities for the purpose of making a firm diagnosis of MND is not recommended (class IV, level GCPP). At present, advanced neuroimaging techniques, including diffusion tensor imaging and proton magnetic resonance spectroscopic imaging, do not have a role in the diagnosis or routine monitoring of MNDs yet (class IV, level GCPP). However, it is strongly advisable to incorporate measures derived from these techniques into new clinical trials as exploratory outcomes to gain additional insights into disease pathophysiology and into the value of these techniques in the (longitudinal) assessment of MNDs (class IV, level GCPP).
    Full-text · Article · Feb 2010 · European Journal of Neurology
Show more