Investig Magn Reson Imaging.  2015 Jun;19(2):114-116. 10.13104/imri.2015.19.2.114.

Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report

• Lee HJ
• You SK
• Lee SM
• Cho HH

• KMID: 2175591
• DOI: http://doi.org/10.13104/imri.2015.19.2.114

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.

Keyword

Cri-du-chat syndrome; Myelination; Hypoplasia of the brain stem; Magnetic resonance imaging; Subependymal cyst

MeSH Terms

Brain
Brain Stem
Cerebellum
Corpus Callosum
Cri-du-Chat Syndrome*
Extremities*
Female
Humans
Infant
Internal Capsule*
Magnetic Resonance Imaging
Myelin Sheath*

Figure

• 

  Fig. 1 Neuroradiological findings of a female child with cri-du-chat syndrome. (a) Coronal cranial US on the second day after birth shows subependymal cysts (arrows). Sagittal, axial T1-weighted (b, c) and axial T2-weighted images (d, e) obtained at 21 months showing hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and lack of myelination in in both anterior limbs of the internal capsule (arrows).

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