A case of mental retardation autosomal dominant 35 with neonatal onset
10.3760/cma.j.cn113903-20220830-00789
- VernacularTitle:新生儿期起病的常染色体显性智力障碍35型1例
- Author:
Zengyuan YU
1
;
Shujing XU
;
Huiqing SUN
;
Lifeng LI
;
Mingchao LI
;
Shan XING
Author Information
1. 郑州大学附属儿童医院早产儿重症监护室，郑州 450018
- Keywords:
Protein phosphatase 2;
Intellectual disability;
Developmental disabilities;
Genetic variation;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2023;26(6):511-513
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a male patient with neonatal onset mental retardation autosomal dominant 35 (MRD35). The boy presented with repeated convulsions, hypotonia, enlarged head circumference, congenital muscular torticollis and feeding difficulties in the neonatal period. Dynamic electroencephalogram showed paroxysmal epileptic discharges in the left central-temporal region. High-throughput whole-exome sequencing revealed a heterozygous mutation of c.139G>A (p.Glu47Lys) in the PPP2R5D gene, which was a de novo mutation not inherited from his parents. The child had significant developmental delay at the age of one year. MRD35 lacks typical clinical manifestations and requires whole-exome sequencing for definitive diagnosis. Currently, there is no specific treatment for MRD35 and symptomatic treatments, including rehabilitation training, language training and seizure control, are mostly adopted.
