Volume 50, Issue 1, Pages 85-95 (January 2014) Clinical, Electrophysiological, Imaging, and Ultrastructural Description in 68 Patients With Neuronal Ceroid Lipofuscinoses and Its Subtypes  Rakesh H. Jadav, MD, DM, Sanjib Sinha, MD, DM, T.C. Yasha, MD, H. Aravinda, MD, DM, N. Gayathri, PhD, S. Rao, MSc, P.S. Bindu, MD, DM, P. Satishchandra, DM  Pediatric Neurology  Volume 50, Issue 1, Pages 85-95 (January 2014) DOI: 10.1016/j.pediatrneurol.2013.08.008 Copyright © 2014 Elsevier Inc. Terms and Conditions

Figure 1 (A) T2 W (axial) image showing leukoencephalopathy in a child with late infantile neuronal ceroid lipofuscinoses (NCL). (B) T1-W (axial) sequence revealing diffuse atrophy in a child with late infantile NCL. (C) A child with late infantile NCL with cerebellar atrophy in T2-W axial section of the brain. (D) Fundus photograph showing atypical retinitis pigmentosa with optic atrophy in a child with juvenile NCL. (E) Goggle visual-evoked potentials (VEP) study in a patient with juvenile NCL depicting giant VEP (amplitude 28 μV). (F) Somatosensory-evoked potentials (SSEP) showing giant SSEP (amplitude: 169 μV) in a patient with juvenile NCL. Pediatric Neurology 2014 50, 85-95DOI: (10.1016/j.pediatrneurol.2013.08.008) Copyright © 2014 Elsevier Inc. Terms and Conditions

Figure 2 Electroencephalography in individuals with neuronal ceroid lipofuscinoses (NCL). (A) Slowing of background activity in delta frequency in an infant with NCL. (B) Polyspike and wave activity with myoclonic jerk in a patient with late infantile NCL. (C) Polyspike and wave activity with pseudo-periodic pattern in a patient with juvenile NCL. (D) Photo-convulsive response at 15 Hz in a patient with juvenile NCL. Pediatric Neurology 2014 50, 85-95DOI: (10.1016/j.pediatrneurol.2013.08.008) Copyright © 2014 Elsevier Inc. Terms and Conditions

Figure 3 Brain biopsy. (A) Pallor in the deeper cortical layers suggests neuronal depletion that is confirmed on higher magnification. (B) Luxol Fast Blue (LFB) stain. (C) Normal sized neurons exhibit autofluorescent material in the cytoplasm. (D, E) The cytoplasmic storage material is periodic acid Schiff (D) and LFB (F) positive. (F) Electron microscopy: curvilinear inclusion in the neuron. Double-layered nuclear membrane is seen at the top (arrow). (Original magnification: A, 5× objective; B, 20× objective; C-E, 40× objective; F, 18,000×). Pediatric Neurology 2014 50, 85-95DOI: (10.1016/j.pediatrneurol.2013.08.008) Copyright © 2014 Elsevier Inc. Terms and Conditions

Figure 4 Ultrastructural features in NCL: skin biopsy. (A, B) Curvilinear inclusions. (A) Vascular smooth muscle cell with two curvilinear, intracytoplasmic inclusions (within marked box). (B) Higher magnification of the boxed area shows the clusters of short curved profiles (arrows) constituting the inclusion. (C, D) Granular osmiophilic deposits (GRODs). (C) Several endothelial cells surrounding a vascular lumen containing intracytoplasmic GRODs (arrows). (D) Higher magnification shows the dark, rounded intralysosomal inclusions. (E, F) Fingerprint inclusions (FPI). (E) Sweat gland epithelial cell with FPI in the cytoplasm. (F) Higher magnification details the closely packed lamellar inclusions. Inset shows a rare inclusion with both curvilinear and finger print morphology. (Magnification: A, ×6700; B, ×22,000; C, ×5000; D, ×20,000; E, ×5000; F, ×40,000; inset, ×22,000). Pediatric Neurology 2014 50, 85-95DOI: (10.1016/j.pediatrneurol.2013.08.008) Copyright © 2014 Elsevier Inc. Terms and Conditions