Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary
10.3348/jksr.2020.81.4.979
- Author:
Jin Sol CHOI
1
;
Eun Ae YOO
;
Jin Ok CHOI
;
Soo Jung KIM
Author Information
1. Department of Diagnostic Radiology, Presbyterian Medical Center, Jeonju, Korea
- Publication Type:Case Report
- From:Journal of the Korean Radiological Society
2020;81(4):979-984
- CountryRepublic of Korea
-
Abstract:
Cri-du-chat syndrome is a rare genetic disorder in which the patient presents with a characteristic high-pitched monotonous cry and recurrent aspiration pneumonia, attributed to abnormalities in the larynx, epiglottis, and nervous system. The most prominent brain MRI findings are the presence of pontine and cerebellar hypoplasia, which primarily involve posterior cranial fossa structures. Although atrophy of supratentorial structures were also a common radiological finding, it was considered to be a secondary change due to pontine hypoplasia. Here, we present the case of a three-month-old patient presenting with cri-du-chat at our institution. The patient also showed the presence of prominent pontine hypoplasia similar to previously reported cases; however, contrary to other cases, there was a general delayed myelination of brain instead of decreased myelination of anterior limb of internal capsule. Since the larynx, pons, and cerebellum all originated from similar notochord level, which suggests anomaly in early stage of development, laryngeal, and brain anomaly characteristically observed in the cridu- chat syndrome.
