Seizure: European Journal of Epilepsy
Volume 19, Issue 5 , Pages 303-305 , June 2010

A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy

  • Hiroyuki Kinoshita

      Affiliations

    • Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15, Koutoh-bashi, Sumida-ku, Tokyo, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81 3 3633 6151; fax: +81 3 3633 6173.
    • ,
  • Takashi Kokudo

      Affiliations

    • Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15, Koutoh-bashi, Sumida-ku, Tokyo, Japan
    • ,
  • Takafumi Ide

      Affiliations

    • Department of Neurosurgery, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan
    • ,
  • Yasushi Kondo

      Affiliations

    • Department of Urology, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan
    • ,
  • Tokuo Mori

      Affiliations

    • Department of Laboratory, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan
    • ,
  • Yasunobu Homma

      Affiliations

    • Department of Laboratory, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan
    • ,
  • Mutsuko Yasuda

      Affiliations

    • Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15, Koutoh-bashi, Sumida-ku, Tokyo, Japan
    • ,
  • Junji Tomiyama

      Affiliations

    • Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15, Koutoh-bashi, Sumida-ku, Tokyo, Japan
    • ,
  • Fumiatsu Yakushiji

      Affiliations

    • Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15, Koutoh-bashi, Sumida-ku, Tokyo, Japan

Received 16 February 2010 ,Revised 24 March 2010 ,Accepted 1 April 2010.

References 

  1. Online Mendelian Inheritance in Man (OMIM). DiGeorge syndrome (#188400). Available at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400. Accessed February 1, 2010.
  2. De Marco P, Merello E, Mascelli S, Capra V. Current perspectives on the genetic causes of neural tube defects. Neurogenetics. 2006;7:201–221
  3. Okurowska-Zawada B, Sobaniec W, Kułak W, Smigielska-Kuzia J, Paszko-Patej G, Sienkiewicz D, et al. Clinical-electroencephalographic analysis of brain bioelectrical activity in children with myelomeningocele and internal hydrocephalus. Adv Med Sci. 2007;52:200–203
  4. Kousseff BG. Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait. Pediatrics. 1984;74:395–398
  5. Toriello HV, Sharda JK, Beaumont EJ. Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome). Am J Med Genet. 1985;22:357–360
  6. Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, et al. Kousseff syndrome: a causally heterogeneous disorder. Am J Med Genet. 2004;124A:307–312
  7. Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, et al. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. Am J Med Genet. 1994;52:445–449
  8. Robert K, Richard B, Hal J, Bonita S. Nelson textbook of pediatrics. 18th ed.. USA: Saunders; 2007;pp. 884–885
  9. Henry K, Shlomo M, Kenneth P, Reed L. Williams textbook of endocrinology. 11th ed.. USA: Saunders; 2007;pp. 1242–1243
  10. Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O’Donnell H, et al. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome. Shprintzen syndrome and familial congenital heart disease. Hum Mol Genet. 1993;2:2099–2107
  11. Mulder MP, Wilke M, Langeveld A, Wilming LG, Hagemeijer A, van Drunen E, et al. Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183). Hum Genet. 1995;96:133–141
  12. Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, et al. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A. 2007;143A:2924–2930
  13. Online Mendelian Inheritance in Man (OMIM). Neural tube defects (#182940). Available at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182940. Accessed February 1, 2010.
  14. Nickel RE, Magenis RE. Neural tube defects and deletions of 22q11. Am J Med Genet. 1996;66:25–27
  15. Yoshida F, Morioka T, Hashiguchi K, Kawamura T, Miyagi Y, Nagata S, et al. Epilepsy in patients with spina bifida in the lumbosacral region. Neurosurg Rev. 2006;29:327–332
  16. González W, Bautista RE. Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature. Seizure. 2009;18:648–651
  17. Kar PS, Ogoe B, Poole R, Meeking D. Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review. J Clin Pathol. 2005;58:655–657
  18. van den Berge K, Diderich K, Poddighe P, Berghout A. Symptomatic hypoparathyroidism based on a 22q11 deletion first diagnosed in a 43-year-old woman. Neth J Med. 2009;67:102–104
  19. Kinouchi A, Mori K, Ando M, Takao A. Facial appearance of patients with conotruncal abnormalities. Pediatr Jpn. 1976;17:84
  20. Takao A, Ando M, Cho K, Kinouchi A, Murakami Y. Etiologic categorization of common congenital heart disease. In:  Van Praagh R,  Takao A editor. Etiology and morphogenesis of congenital heart disease. Mount Kisco, NY: Futura Publishing Company; 1980;p. 253–269
  21. Shimizu T, Takao A, Ando M, Hirayama A. Conotruncal face syndrome: its heterogeneity and association with thymus involution. In:  Nora JJ,  Takao A editor. Congenital heart disease: causes and processes. Mount Kisco, NY: Futura Publishing; 1984;p. 29–41
  22. Roberts C, Daw SC, Halford S, Scambler PJ. Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum Mol Genet. 1997;6:237–245
  23. Lu JH, Chung MY, Betau H, Chien HP, Lu JK. Molecular characterization of tetralogy of Fallot within Digeorge critical region of the chromosome 22. Pediatr Cardiol. 2001;22:279–284
  24. Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63:294–299
  25. Lu JH, Chung MY, Hwang B, Chien HP. Prevalence and parental origin in tetralogy of Fallot associated with chromosome 22q11 microdeletion. Pediatrics. 1999;104:87–90
  26. McClarren J, Donnenfeld AE, Ravnan JB. Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. Prenat Diagn. 2006;26:1212–1215

PII: S1059-1311(10)00076-2

doi: 10.1016/j.seizure.2010.04.005

Seizure: European Journal of Epilepsy
Volume 19, Issue 5 , Pages 303-305 , June 2010

Article Tools