A case of mental retardation autosomal dominant 35 with neonatal onset / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
; (12): 511-513, 2023.
Article
in Zh
| WPRIM
| ID: wpr-995132
Responsible library:
WPRO
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.
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Index:
WPRIM
Language:
Zh
Journal:
Chinese Journal of Perinatal Medicine
Year:
2023
Type:
Article