| 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 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 |
