Seminars in Pediatric Neurology
Volume 17, Issue 1 , Pages 2-5 , March 2010

A Six-Year-Old Girl With a Leukodystrophy

  • John B. Bodensteiner, MD

      Affiliations

    • Division of Pediatric Neurology, William Pilcher Professor of Pediatric Neurology, St. Joseph's Children's Health Center, Barrow Neurologic Institute, Phoenix, AZ
    • Corresponding Author InformationAddress reprint requests to John B. Bodensteiner, MD, Division of Pediatric Neurology, William Pilcher Professor of Pediatric Neurology Chief, St. Joseph's Children's Health Center, Barrow Neurologic Institute, 500 W. Thomas Road, Suite 400, Phoenix, AZ 85013 602-406-3808
    • ,
  • Bruce Dean, MD

      Affiliations

    • Division of Neuroradiology, Department of Radiology, St. Joseph's Children's Health Center, Barrow Neurologic Institute, Phoenix, AZ

References 

  1. Chung EO, Bodensteiner JB, Noorani PA, et al. Cerebral white matter changes suggesting leukodystrophy in ataxia telangiectasia. J Child Neurol. 1994;9:31–35
  2. Bodensteiner JB. The evaluation of the hypotonic child. In: Advances in Clinical Genetics. Schaefer GB, Guest Ed. Semin Pediatr Neurol. 2008;15:10–20
  3. Lee SY, Kim SH, Lee SH, et al. Serial MR spectroscopy in relapsing reversible posterior leukoencephalopathy syndrome. Neurologist. 2009;15:338–341
  4. Shuja S, Lindquist J, Lee KP, et al. CADASIL disease, an inherited slowly progressive vascular dementia: Case report with radiologic and electron microscopic findings. J Stroke Cerebrovasc Dis. 2009;18:491–493
  5. Breningstall GN, Shoffner J, Patterson RJ. Siblings with leukoencephalopathy. Semin Pediatr Neurol. 2008;15:212–215
  6. Barnaby G, Abbott A, Sykes N, et al. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: Evidence of association at GRIN2A and ABAT. Am J Hum Genet. 2005;76:950–966
  7. Niyazov DM, Nawaz Z, Justice AN, et al. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A. 2007;143A:2700–2705
  8. Fukumura K, Kato A, Jin Y, et al. Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1-gamma gene. Nucleic Acids Res. 2007;35:5303–5311
  9. Fields RD. Nerve impulses regulate myelination through purinergic signaling. Novartis Found Symp. 2006;276:148–158
  10. Espay AJ, Bodensteiner JB, Patel H. Episodic coma in a new leukodystrophy. Pediatr Neurol. 2002;26:139–142
  11. Timothy J, Geller T. SURF-1 gene mutation associated with leukoencephalopathy in a 2 year old. J Child Neurol. 2009;24:1296–1301
  12. Malhotra A, Westesson PL: Megalencephalic leukoencephalopathy with subcortical cyst formation (van der Knaap disease). Pediatr Radiol (in press)
  13. Bodensteiner JB, Kerrigan JF, Johnsen SD. Leukoencoephopathy with bilateral anterior temporal lobe cysts. J Child Neurol. 2006;21:419–422
  14. Bodensteiner JB, Ellis CR, Schaefer GB. Mental retardation. In:  Maria BL editors. Current Management in Child Neurology. (ed 4). Shelton, CT: People's Medical Publishing House; 2009;p. 346–359

PII: S1071-9091(10)00002-1

doi: 10.1016/j.spen.2010.01.001

Seminars in Pediatric Neurology
Volume 17, Issue 1 , Pages 2-5 , March 2010

Article Tools

* Image Usage & Resolution