|
KMID : 0918520200200010029
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2020 Volume.20 No. 1 p.29 ~ p.35
|
|
|
A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation
|
|
Kim Sung-Hoon
Lee Sang-Taek
Seong Moon-Woo
Kim Man-Jin
Lee Jun-Hwa
|
|
|
Abstract
|
|
|
Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the “molar tooth sign” (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-
12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a “hidden” MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.
|
|
|
KEYWORD
|
|
|
Joubert syndrome, Molar tooth sign, Chronic renal failure, CEP290 mutation
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|