J Pediatr Genet 2021; 10(03): 253-258
DOI: 10.1055/s-0040-1713768
Case Report

A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement

Joana Ramos-Lopes
1   Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
,
Joana Ribeiro
2   Child Development Centre, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
,
Mário Laço
3   Medical Genetics Unit, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
,
Cristina Alves
4   Orthopedics Department, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
,
Anabela Matos
1   Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
,
Cármen Costa
2   Child Development Centre, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
› Author Affiliations
Funding None.

Abstract

A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report described the first Iberian Silver syndrome case carrying a de novo c.269C > T p. (S90L) BSCL2 gene mutation.



Publication History

Received: 19 April 2020

Accepted: 20 May 2020

Article published online:
08 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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