Neatly Coiffed Lad with Progressive Seizures

Update Item Information
Identifier walsh_2001_s6_c2
Title Neatly Coiffed Lad with Progressive Seizures
Creator Brian R. Younge, MD; Jeffrey Britton, MD
Affiliation (BRY) (JB) Mayo Clinic, Rochester, MN
Subject Neuronal Ceroid-Lipofuscinoses; Retinal Diseases; Dementia; Seizures; Lysosomal Storage Diseases; Dysarthria; Optic Atrophy; DNA Damage
History A 23-year-old male with a progressive neurodegenerative disorder and blindness.
Pathology Lysosomal inclusions; Cytoplasmic curvilinear and fingerprint bodies
Disease/Diagnosis Juvenile-type neuronal ceroid lipofuscinosis
Clinical VA: LPO OU
Presenting Symptom Loss of vision OU; Cognitive deficits; Dysarthria; Gait disturbances; Seizures
Neuroimaging MRI
Treatment N/A
Date 2001
References 1. Beck RW. Chapter 14: Abnormalities of the optic nerve and retina. Boston: Butterworth-Heinemann, 1991. 2. Janeway R, Ravens JR, Pearce LA, Odor DL, Suzuki K. Progressive myclonus epilepsy with Lafora inclusion bodies. 1. Clinical, genetic, histopathologic and biochemical aspects. Archives Neurology 1967;16:565-582. 3. van Dijk JG, vander Velde EA, Roos RAC, Bruyn GW. Juvenile Huntington disease. Human Genetics 1986;73:235-239. 4. Halliday W. The nosology of Hallervorden-Spatz disease. J Neurol Sci 1995;134:84-91. 5. Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 2000;355:389-94. 6 Bennett MJ, Hofmann SL. The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. Journal of Inherited Metabolic Disease 1999;22:535-44. 7. Goebel HH, Sharp JD. The neuronal ceroid-lipofuscinoses. Recent advances. Brain Pathology 1998;8:151-62. 8. Hofmann SL, Das AK, Yi W, Lu JY, Wisniewski KE. Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmityol-protein thioesterase deficiency. Molecular Genetics & Metabolism 1999;66:234-9. 9. Mole S, Gardiner M. Molecular genetics of the neuronal ceroid lipofuscinoses. Epilepsia 1999;40:29-32. 10. Goebel HH, Schochet SS, Jaynes M, Bruck W, Kohlschutter A, Hentati F. Progress in neuropathology of the neuronal ceroid lipofuscinoses. Molecular Genetics & Metabolism 1999;66:367-72.
Language eng
Format application/pdf
Type Text
Source 27th Annual North American Neuro-Ophthalmology Society Meeting, Frank B. Walsh Session CD-ROM
Relation is Part of NANOS Annual Meeting Frank B. Walsh Sessions; 2001
Collection Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s608682r
Setname ehsl_novel_fbw
ID 177695
Reference URL https://collections.lib.utah.edu/ark:/87278/s608682r
Back to Search Results