Article type: Case Report
Authors: Oliwa, Agataa; * | Joseph, Shukob | Millar, Eoghanc | Horrocks, Iainb | Penman, Dawnd | Baptista, Juliae | Cullup, Thomasf | Constantinou, Panayiotisg | Heuchan, Anne-Marieh | Hamilton, Ruthi | Longman, Cherylg
Affiliations:
[a] Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK
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[b] Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow, UK
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[c] Department of Ophthalmology, Royal Hospital for Children, Glasgow, UK
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[d] Department of Pathology, Queen Elizabeth University Hospital, Glasgow, UK
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[e] Peninsula Medical School, Faculty of Heath, University of Plymouth, Plymouth, UK
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[f] North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK
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[g] West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK
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[h] Department of Neonatology, Royal Hospital for Children, Glasgow, UK
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[i] Department of Clinical Physics and Bioengineering, Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK
Correspondence:
[*]
Correspondence to: Agata Oliwa, Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK. Tel.: +44 141 330 5921; E-mail: agata.oliwa@newcastle.ac.uk; E-mail: cheryl.longman@nhs.scot.
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.
Keywords: Arthrogryposis, cataract, BICD2, SMA-LED2, spinal muscular atrophy lower extremity predominant
DOI: 10.3233/JND-220818
Journal: Journal of Neuromuscular Diseases, vol. 9, no. 6, pp. 803-808, 2022
Published: 08 November 2022