Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
J Neuromuscul Dis
; 9(6): 803-808, 2022.
Article
in En
| MEDLINE
| ID: mdl-36057830
ABSTRACT
This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T>C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataract, abnormal electroretinograms and VEPs are novel features of SMA-LED2.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cataract
/
Muscular Atrophy, Spinal
/
Spinal Muscular Atrophies of Childhood
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
J Neuromuscul Dis
Year:
2022
Type:
Article
Affiliation country:
United kingdom