PMID: 8972537Nov 1, 1996Paper

Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis

Pediatric Neurology
B PetersenH I Huppertz

Abstract

We describe a girl aged 5 years, 6 months who began to have seizures at the age of 3 years, 9 months. A cranial CT scan revealed mild, generalized cerebral atrophy. During the next year, she gradually developed ataxia, myoclonic jerks, and bilateral optic nerve atrophy and lost motor skills. A second CT scan performed 12 months after the onset of first symptoms revealed marked progression of cerebral atrophy, especially in the infratentorial area. MRI demonstrated bilateral, periventricular hyperintensities in the T2-weighted images but no changes in the basal ganglia. Electron microscopic investigations of skin biopsies demonstrated curvilinear bodies, confirming the suspected diagnosis of late infantile neuronal ceroid-lipofuscinosis (LINCL). Predominance of cerebral atrophy in the infratentorial area is typical of LINCL. Periventricular white matter lesions may be evident on MRI scans of patients with classical and LINCL-variant disease. In contrast to neuroradiological findings in patients with LINCL-variant disease, findings in patients with classical LINCL revealed no changes in the basal ganglia.

References

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Citations

Mar 26, 2008·Molecular Therapy : the Journal of the American Society of Gene Therapy·Michael ChangBeverly L Davidson
May 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·N ZhongW T Brown
Sep 26, 2000·Molecular Genetics and Metabolism·N Zhong
Aug 26, 2006·Biochimica Et Biophysica Acta·Ruth E WilliamsTuula Lönnqvist
Jul 27, 2012·Journal of Child Neurology·María S Pérez-PoyatoMontserrat Milá
Sep 14, 2013·The Neuroradiology Journal·R H JadavP Satishchandra

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