ORCID
- Baptista, Julia: 0000-0003-0915-5028
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 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 cataracts and abnormal electroretinograms are novel features of SMA-LED2.
DOI
10.3233/jnd-220818
Publication Date
2022-09-01
Publication Title
Journal of Neuromuscular Diseases
First Page
1
Last Page
6
ISSN
2214-3599
Embargo Period
2022-10-28
Organisational Unit
Peninsula Medical School
Recommended Citation
Oliwa, A., Joseph, S., Millar, E., Horrocks, I., Penman, D., Baptista, J., Cullup, T., Constantinou, P., Heuchan, A., Hamilton, R., & Longman, C. (2022) 'Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype', Journal of Neuromuscular Diseases, , pp. 1-6. Available at: https://doi.org/10.3233/jnd-220818
