1. Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype
- Author
-
Agata Oliwa, Shuko Joseph, Eoghan Millar, Iain Horrocks, Dawn Penman, Julia Baptista, Thomas Cullup, Panayiotis Constantinou, Anne-Marie Heuchan, Ruth Hamilton, and Cheryl Longman
- Subjects
Muscular Atrophy, Spinal ,Phenotype ,Lower Extremity ,Neurology ,Pregnancy ,Humans ,Evoked Potentials, Visual ,Female ,Neurology (clinical) ,Spinal Muscular Atrophies of Childhood ,Microtubule-Associated Proteins ,Cataract - 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.
- Published
- 2022