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Radiological Manifestations in Familial Dysautonomia

Radiological Manifestations in Familial Dysautonomia Abstract The radiological findings in familial dysautonomia may be grouped into major and minor categories. At least two major signs are necessary for the radiological suspicion of the syndrome. Roentgenographic findings of permanent bowel distension, urinary bladder distension, and atony of the ureter provide additional support for the syndrome. The clinical and radiological features in seven cases are analyzed, with the purpose of making the radiological findings more familiar. References 1. Brunt PW, McKusick VA: Familial dysautonomia: A report of genetic and clinical studies with review of the literature . Medicine 49:343-374, 1970.Crossref 2. Riley CM, et al: Central autonomic dysfunction with defective lacrimation . Pediatrics 3:468-478, 1949. 3. Riley CM, Freedmann AM, Langford WS: Further observations on familial dysautonomia . Pediatrics 14:475-480, 1954. 4. Smith AA, Dancis J: Response to intradermal histamine in familial dysautonomia: A diagnostic sign . J Pediatr 63:889-892, 1963.Crossref 5. Smith AA, Farbman A, Dancis J: Tongue in familial dysautonomia: A diagnostic sign . Am J Dis Child 110:152-153, 1965. 6. Moses SW, et al: A clinical, genetic and biochemical study of familial dysautonomia in Israel . Isr J Med Sci 3:358-370, 1967. 7. Kirkpatrick RH, Riley CM: Roentgenographic findings in familial dysautonomia . Radiology 68:654-660, 1957. 8. Neuhauser EBD, Griscom NT: Aspiration pneumonitis in children . Prog Pediatr Radiol 1:265-293, 1967. 9. Moloshok RE, Moseley JE: Familial dysautonomia: Pulmonary manifestations . Pediatrics 17:327-333, 1956. 10. Harris GBC: A special form of disturbed swallowing: One aspect of familial dysautonomia . Prog Pediatr Radiol 2:184-189, 1969. 11. Margulies SI, et al: Familial dysautonomia: A cineradiographic study of swallowing mechanism . Radiology 90:107-112, 1968. 12. Linde LM, Westover JL: Esophageal and gastric abnormalities in dysautonomia . Pediatrics 29:303-306, 1962. 13. Rotem Y, Charuzi Y: Mega-esophagus, plagiocephaly, spina ventosa and osseous changes in familial dysautonomia . Harefuah 70:51-56, 1966. 14. Thieffry S, et al: La dysautonomie familiae: Symptomes habituels et manifestations atypiques . Arch Fr Pediatr 18:194-212, 1961. 15. Grossman HJ, Limosani MA, Shore M: Megacolon as a manifestation of familial autonomic dysfunction . J Pediatr 49:289-292, 1956.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Radiological Manifestations in Familial Dysautonomia

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References (16)

Publisher
American Medical Association
Copyright
Copyright © 1974 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1974.02110270050010
Publisher site
See Article on Publisher Site

Abstract

Abstract The radiological findings in familial dysautonomia may be grouped into major and minor categories. At least two major signs are necessary for the radiological suspicion of the syndrome. Roentgenographic findings of permanent bowel distension, urinary bladder distension, and atony of the ureter provide additional support for the syndrome. The clinical and radiological features in seven cases are analyzed, with the purpose of making the radiological findings more familiar. References 1. Brunt PW, McKusick VA: Familial dysautonomia: A report of genetic and clinical studies with review of the literature . Medicine 49:343-374, 1970.Crossref 2. Riley CM, et al: Central autonomic dysfunction with defective lacrimation . Pediatrics 3:468-478, 1949. 3. Riley CM, Freedmann AM, Langford WS: Further observations on familial dysautonomia . Pediatrics 14:475-480, 1954. 4. Smith AA, Dancis J: Response to intradermal histamine in familial dysautonomia: A diagnostic sign . J Pediatr 63:889-892, 1963.Crossref 5. Smith AA, Farbman A, Dancis J: Tongue in familial dysautonomia: A diagnostic sign . Am J Dis Child 110:152-153, 1965. 6. Moses SW, et al: A clinical, genetic and biochemical study of familial dysautonomia in Israel . Isr J Med Sci 3:358-370, 1967. 7. Kirkpatrick RH, Riley CM: Roentgenographic findings in familial dysautonomia . Radiology 68:654-660, 1957. 8. Neuhauser EBD, Griscom NT: Aspiration pneumonitis in children . Prog Pediatr Radiol 1:265-293, 1967. 9. Moloshok RE, Moseley JE: Familial dysautonomia: Pulmonary manifestations . Pediatrics 17:327-333, 1956. 10. Harris GBC: A special form of disturbed swallowing: One aspect of familial dysautonomia . Prog Pediatr Radiol 2:184-189, 1969. 11. Margulies SI, et al: Familial dysautonomia: A cineradiographic study of swallowing mechanism . Radiology 90:107-112, 1968. 12. Linde LM, Westover JL: Esophageal and gastric abnormalities in dysautonomia . Pediatrics 29:303-306, 1962. 13. Rotem Y, Charuzi Y: Mega-esophagus, plagiocephaly, spina ventosa and osseous changes in familial dysautonomia . Harefuah 70:51-56, 1966. 14. Thieffry S, et al: La dysautonomie familiae: Symptomes habituels et manifestations atypiques . Arch Fr Pediatr 18:194-212, 1961. 15. Grossman HJ, Limosani MA, Shore M: Megacolon as a manifestation of familial autonomic dysfunction . J Pediatr 49:289-292, 1956.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Aug 1, 1974

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