Pediatric Neurology
Volume 32, Issue 4 , Pages 273-274 , April 2005

Episodic somnolence in an infant with Riley-Day syndrome

  • Erasmo B. Casella, MD

      Affiliations

    • Pediatric Neurology Unit, University of São Paulo, São Paulo, Brazil
    • Corresponding Author InformationCommunications should be addressed to: Dr. Casella; Rua Oscar Freire 1827; CEP 05409-011; São Paulo, Brazil
    • ,
  • Albert Bousso, MD

      Affiliations

    • Pediatric Department, University of São Paulo, São Paulo, Brazil
    • ,
  • Cassandra M. Corvello, MD

      Affiliations

    • Genetic Department of the Fleury Laboratory; Pediatric Poison Control Center of São Paulo, São Paulo, Brazil
    • ,
  • Ligia V.G. Fruchtengarten, MD

      Affiliations

    • Genetic Department of the Fleury Laboratory; Pediatric Poison Control Center of São Paulo, São Paulo, Brazil
    • ,
  • Aron J. Diament, MD

      Affiliations

    • Department of Neurology of the Faculty of Medicine, University of São Paulo, São Paulo, Brazil

Received 16 July 2004 ,Accepted 27 September 2004.

References 

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  2. Axelrod FB . Familial dysautonomia: A 47-year perspective. How technology confirms clinical acumen . J Pediat . 1998;132:S2–S5
  3. Riley CM , Day RL , Greeley DM , Langford WS . Central autonomic dysfunction with defective lacrimation (Report of five cases) . Pediatrics . 1949;3:468–478
  4. Riley CM . Familial autonomic dysfunction . JAMA . 1952;149:1532–1535
  5. Smith AA , Dancis J . Physiologic studies in familial dysautonomia . J Pediat . 1963;63:838–840
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  7. Smith AA , Dancis J . Response to intradermal histamine in familial dysautonomia (A diagnostic test) . J Pediat . 1963;63:889–894
  8. Kaplan M , Schiffman R , Shapira Y . Diagnosis of familial dysautonomia in the neonatal period . Acta Paediat Scand . 1985;74:131–132
  9. Maayan C , Kaplan E , Shachar S , Peleg O , Godfrey S . Incidence of familial dysautonomia in Israel 1977–1981 . Clin Genet . 1987;32:106–108
  10. Anderson SL , Coli R , Daly IW , et al.   Familial dysautonomia is caused by mutations of the IKAP gene . Am J Hum Genet . 2001;68:753–758
  11. Blumenfeld A , Slaugenhaupt SA , Axelrod FB , et al.   Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis . Nat Genet . 1993;4:160–164
  12. Blumenfeld A , Slaugenhaupt SA , Liebert CB , et al.   Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31 . Am J Hum Genet . 1999;64:1110–1118
  13. Vallance H , Ford J . Carrier testing for autosomal-recessive disorders . Crit Rev Clin Lab Sci . 2003;40:473–497

PII: S0887-8994(04)00505-3

doi: 10.1016/j.pediatrneurol.2004.09.010

Pediatric Neurology
Volume 32, Issue 4 , Pages 273-274 , April 2005

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