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Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy Abstract Infantile neuroaxonal dystrophy is a disease entity first described by Seitelberger in 1952. Since then eight cases have been reported. In spite of extensive pathologic and clinical descriptions the exact nature of the lesions is not yet defined, and the classification of this nosologic entity is still not clear. The following case report differs in some respects from those previously reported and thus may add to our knowledge concerning this disease. Report of Case A 3-year-old male infant was admitted to the pediatric department for evaluation because of mental retardation and severe generalized muscle hypotonia. He was born after an uneventful pregnancy and delivery. The birth weight was 4,200 gm (9 lb). His parents were healthy and were not related. No neurologic diseases were noted in the family. He was the only child. At the age of 1 year his parents noted an arrest in his motor and mental References 1. Cowen, D., and Olmstead, E. V.: Infantile Neuroaxonal Dystrophy , J Neuropath Exp Neurol 22:176-236, 1963.Crossref 2. Kalinowsky, L.: Familiare Erkrankung mit besonderer Beteilung der Stammganglien , Mschr Psychol Neurol 66:168-190, 1927.Crossref 3. Lyon, G., and See, G.: La degenerescence neuroaxonals infantile , Rev Neurol 109:133-155, 1963. 4. Rabinowitz, T., and Wildi, E.: " Spastic Amaurotic Axonal Idiocy: Familial Juvenile Form of Lipo-Glyco-Protidic Thesaurismosis Including Pallidal Siderosis ," in Cerebral Lipidoses: Symposium , J. N. Cumings, ed., Springfield, Ill: Charles C Thomas, Publisher, 1957, pp 34-43. 5. Scholte W.: Morphologische und histochemische Untersuchungen und retrograden Axonveranderungen im Zentralnervenzystem , Acta Neuropath 1:135-158, 1961.Crossref 6. Seitelberger, F.: "Eine unbekannte Form von infantiler lipoidspeicher Krankheit des Gehirns," in Proceedings of the First International Congress of Neuropathology, Turin: Rosenberg and Sellier, 1952, vol 3, pp 323. 7. Seitelberger, F.: "Eine eigenartige Stoffwechselerkrankung der Ganglienzellen im Zentralnervenzystem," in Proceedings of the Fifth International Neurological Congress, 1953, Lisbon: vol 3, pp 484. 8. Seitelberger, F., in discussion on Rabinowitz and Wildi.4 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Infantile Neuroaxonal Dystrophy

SANDBANK, U.
Archives of Neurology , Volume 12 (2) – Feb 1, 1965
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References (6)

Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1965.00460260045005
Publisher site
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Abstract

Abstract Infantile neuroaxonal dystrophy is a disease entity first described by Seitelberger in 1952. Since then eight cases have been reported. In spite of extensive pathologic and clinical descriptions the exact nature of the lesions is not yet defined, and the classification of this nosologic entity is still not clear. The following case report differs in some respects from those previously reported and thus may add to our knowledge concerning this disease. Report of Case A 3-year-old male infant was admitted to the pediatric department for evaluation because of mental retardation and severe generalized muscle hypotonia. He was born after an uneventful pregnancy and delivery. The birth weight was 4,200 gm (9 lb). His parents were healthy and were not related. No neurologic diseases were noted in the family. He was the only child. At the age of 1 year his parents noted an arrest in his motor and mental References 1. Cowen, D., and Olmstead, E. V.: Infantile Neuroaxonal Dystrophy , J Neuropath Exp Neurol 22:176-236, 1963.Crossref 2. Kalinowsky, L.: Familiare Erkrankung mit besonderer Beteilung der Stammganglien , Mschr Psychol Neurol 66:168-190, 1927.Crossref 3. Lyon, G., and See, G.: La degenerescence neuroaxonals infantile , Rev Neurol 109:133-155, 1963. 4. Rabinowitz, T., and Wildi, E.: " Spastic Amaurotic Axonal Idiocy: Familial Juvenile Form of Lipo-Glyco-Protidic Thesaurismosis Including Pallidal Siderosis ," in Cerebral Lipidoses: Symposium , J. N. Cumings, ed., Springfield, Ill: Charles C Thomas, Publisher, 1957, pp 34-43. 5. Scholte W.: Morphologische und histochemische Untersuchungen und retrograden Axonveranderungen im Zentralnervenzystem , Acta Neuropath 1:135-158, 1961.Crossref 6. Seitelberger, F.: "Eine unbekannte Form von infantiler lipoidspeicher Krankheit des Gehirns," in Proceedings of the First International Congress of Neuropathology, Turin: Rosenberg and Sellier, 1952, vol 3, pp 323. 7. Seitelberger, F.: "Eine eigenartige Stoffwechselerkrankung der Ganglienzellen im Zentralnervenzystem," in Proceedings of the Fifth International Neurological Congress, 1953, Lisbon: vol 3, pp 484. 8. Seitelberger, F., in discussion on Rabinowitz and Wildi.4

Journal

Archives of Neurology – American Medical Association

Published: Feb 1, 1965

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