Korean J Radiol.  2013 Dec;14(6):960-962. 10.3348/kjr.2013.14.6.960.

Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

• Hong JH
• Lee HY
• Lim MK
• Kim MY
• Kang YH
• Lee KH
• Cho SG

• KMID: 1711464
• DOI: http://doi.org/10.3348/kjr.2013.14.6.960

Abstract

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

Keyword

Cri-du-Chat syndrome; Genetic disorder; Brain stem hypoplasia; Brain MRI

MeSH Terms

Brain Stem/*pathology
Cri-du-Chat Syndrome/*complications/diagnosis
Diagnosis, Differential
Female
Humans
Infant
Magnetic Resonance Imaging/*methods
Pons/pathology

Figure

• 

  Fig. 1 MR images of 1 year and 4 months girl with Cri-du-Chat syndrome. Sagittal T1-weighted (A) and axial T2-weighted (B-D) images show hypoplasia of brainstem, most prominently in pons, with normal cerebellum, thinning of corpus callosum and mega cisterna magna (A, C). Mild atrophy of both frontal and temporal lobes and decreased myelination in both anterior limbs of internal capsules (arrows) are seen (D).

Reference

1. Tamraz J, Rethoré MO, Lejeune J, Outin C, Goepel R, Stievenart JL, 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.

2. De Michele G, Presta M, Di Salle F, Serra L, Mazzaccara A, Della Rocca G, et al. Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome. Acta Neurol (Napoli). 1993; 15:92–96.

3. Arts WF, Hofstee Y, Drejer GF, Beverstock GC, Oosterwijk JC. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10. Neuropediatrics. 1995; 26:41–44.

4. Ninchoji T, Takanashi J. Pontine hypoplasia in 5p-syndrome: a key MRI finding for a diagnosis. Brain Dev. 2010; 32:571–573.

5. Selim LA, Zaki MS, Hussein HA, Saleem SN, Kotoury AS, Issa MY. Developmental abnormalities of mid and hindbrain: A study of 23 Egyptian patients. Egypt J Med Hum Genet. 2008; 9:215–236.

6. Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y. Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn. 2005; 25:311–313.

7. Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007; 62:625–639.

8. Kjaer I, Niebuhr E. Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am J Med Genet. 1999; 82:6–14.