Kosin Med J.  2018 Jun;33(1):117-121. 10.7180/kmj.2018.33.1.117.

Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant

• Jung YJ

• KMID: 2415848
• DOI: http://doi.org/10.7180/kmj.2018.33.1.117

Abstract

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS).

Keyword

Cri-du-chat syndrome; Hypoplasia; Pons; Premature

MeSH Terms

Cri-du-Chat Syndrome*
Cytogenetic Analysis
Gestational Age
Humans
Hypertelorism
Infant, Newborn
Infant, Premature*
Karyotype
Karyotyping
Magnetic Resonance Imaging
Micrognathism
Pons
Respiration
Ventilation

Figure

• 

  Fig. 1 MRI images showed pontine hypoplasia with normal cerebellum.

Reference

1. Garofalo E, Minerva A. Crying cat syndrome in a premature infant. Clin Pediatr (Bologna). 1970; 52:80–91.

2. Beaney A. Case study: a premature baby with cri-du-chat syndrome. Midwives Chron. 1976; 89:158–160.

3. Kim CH, Cho EH, Shin SM, Kim JS. A Case of Cat Cry Syndrome. J Korean Pediatr Soc. 1975; 18:532–536.

4. Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, 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.

5. Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010; 15:e473–e478.

6. 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.

7. Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978; 44:227–275.

8. Jones KL. Smith's recognizable Patterns of Human Malformation. 6th ed. Elsevier Saunders: Philadelphia;2006.

9. Hong JH, Lee HY, Lim MK, Kim MY, Kang YH, Lee KH, et al. Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome. Korean J Radiol. 2013; 14:960–962.

10. Barkovich AJ, Patay Z. Metabolic and neurodegenerative disorders primarily involving the cerebellum. In : Barkovich AJ, Raybaud C, editors. Pediatric Neuroimaging. Philadelphia: Lippincott Williams & Wilkins;2012. p. 210–212.