Investigative Magnetic Resonance Imaging

Korean Society of Magnetic Resonance in Medicine (대한자기공명의과학회)
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Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report

  • Lee, Hyo Jin (Department of Radiology, Chungnam National University Hospital) ;
  • You, Sun Kyoung (Department of Radiology, Chungnam National University Hospital) ;
  • Lee, So Mi (Department of Radiology, Seoul National University Children's Hospital) ;
  • Cho, Hyun-Hae (Department of Radiology, Seoul National University Children's Hospital)
  • Received : 2015.03.04
  • Accepted : 2015.05.19
  • Published : 2015.06.30
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Abstract

A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symmetrical lack of myelination in both anterior limbs of the internal capsule could be a diagnostic clue of cri-du-chat syndrome.

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References

  1. Rodriguez-Caballero A, Torres-Lagares D, Rodriguez-Perez A, Serrera-Figallo MA, Hernandez-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal 2010;15:e473-478
  2. Lejeune J, Lafourcade J, Berger R, et al. 3 cases of partial deletion of the short arm of a 5 chromosome. C R Hebd Seances Acad Sci 1963;257:3098-3102
  3. Ninchoji T, Takanashi J. Pontine hypoplasia in 5p-syndrome: a key MRI finding for a diagnosis. Brain Dev 2010;32:571-573 https://doi.org/10.1016/j.braindev.2009.07.003
  4. Uzunhan TA, Sayinbatur B, Caliskan M, Sahin A, Aydin K. A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia. Ann Indian Acad Neurol 2014;17:209-210 https://doi.org/10.4103/0972-2327.132635
  5. Hong JH, Lee HY, Lim MK, et al. Brain stem hypoplasia associated with Cri-du-Chat syndrome. Korean J Radiol 2013;14:960-962 https://doi.org/10.3348/kjr.2013.14.6.960
  6. Tamraz J, Rethore M, Lejeune J, et al. Brain morphometry using MRI in cri-du-chat syndrome. Report of seven cases with review of the literature. Ann Genet 1993;36:75-87
  7. De Michele G, Presta M, Di Salle F, et al. Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome. Acta Neurol (Napoli) 1993;15:92-96
  8. Teoh XH, Tan TY, Chow KK, Lee IW. Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. Singapore Med J 2009;50:e181-184