Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 151-153 , December 2008

Hypotonia, Weakness, and Pontocerebellar Hypoplasia in Siblings

  • Chang-Yong Tsao, MD

      Affiliations

    • Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
    • Corresponding Author InformationAddress reprint requests to Chang-Yong Tsao, MD, The Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, 700 Childrens Drive, Columbus, OH 43205
    • ,
  • Jerry Mendell, MD

      Affiliations

    • Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
    • ,
  • Zarife Sahenk, MD, PhD

      Affiliations

    • Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
    • ,
  • Jerome Rusin, MD

      Affiliations

    • Department of Radiology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH
    • ,
  • Daniel Boue, MD, PhD

      Affiliations

    • Department of Pathology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH

References 

  1. Norman RM. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child. 1961;36:96–101
  2. Barth PG. Pontocerebellar hypoplasias (An overview of a group of inherited neurodegenerative disorders with fetal onset). Brain Dev. 1993;15:411–422
  3. Goutieres F, Aicardi J, Farkas E. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J Neurol Neurosurg Psychiatry. 1977;40:370–378
  4. Chou SM, Gilbert EF, Chun RWM, et al. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990;9:21–32
  5. Gorgen-Pauly U, Sperner J, Reiss I, et al. Familial pontocerebellar hypoplasia type 1 with anterior horn cell disease. Eur J Paediatr Neurol. 1999;3:33–38
  6. Muntoni F, Goodwin F, Sewry C, et al. Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. Neuropediatrics. 1999;30:243–248
  7. Salman MS, Buncic JR, Becker L. Pontocerebellar hypoplasia type 1: New leads for an earlier diagnosis. J Child Neurol. 2003;18:220–225
  8. Rudnik-Schoneborn S, Sztriha L, Aithala GR, et al. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet. 2003;117A:10–17

PII: S1071-9091(08)00068-5

doi: 10.1016/j.spen.2008.09.001

Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 151-153 , December 2008

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