TY - JOUR
T1 - Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype
AU - Oliwa, Agata
AU - Joseph, Shuko
AU - Millar, Eoghan
AU - Horrocks, Iain
AU - Penman, Dawn
AU - Baptista, Julia
AU - Cullup, Thomas
AU - Constantinou, Panayiotis
AU - Heuchan, Anne Marie
AU - Hamilton, Ruth
AU - Longman, Cheryl
PY - 2022/9/1
Y1 - 2022/9/1
N2 - 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.
AB - 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.
UR - https://pearl.plymouth.ac.uk/pms-research/575/
U2 - 10.3233/jnd-220818
DO - 10.3233/jnd-220818
M3 - Article
SN - 2214-3599
VL - 0
SP - 1
EP - 6
JO - Journal of Neuromuscular Diseases
JF - Journal of Neuromuscular Diseases
IS - 0
ER -