Neuropediatrics
DOI: 10.1055/s-0040-1708539
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant

1  Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy
,
Alessandra Gamucci
1  Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy
,
1  Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy
,
Claudia Nesti
2  Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy
,
Chiara Fiorillo
1  Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy
3  Unit of Paediatric Neurology and Muscular Diseases, IRCSS Istituto Giannina Gaslini, Genoa, Italy
,
Stefano Doccini
2  Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy
,
4  Unit of Neuroradiology, IRCCS Istituto Giannina Gaslini, Genoa, Italy
,
Lino Nobili
1  Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy
5  Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy
,
Filippo M. Santorelli
2  Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy
,
Maria Margherita Mancardi
5  Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy
,
Elisa De Grandis
1  Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy
5  Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy
› Author Affiliations
Further Information

Publication History

25 June 2019

23 January 2020

Publication Date:
11 May 2020 (online)

Abstract

RTN4IP1 pathogenic variants (OPA10 syndrome) have been described in patients with early-onset recessive optic neuropathy and recently associated with a broader clinical spectrum, from isolated optic neuropathy to severe encephalopathies with epilepsy. Here we present a case of a patient with a complex clinical picture characterized by bilateral optic nerve atrophy, horizontal nystagmus, myopia, mild intellectual disability, generalized chorea, isolated small subependymal heterotopia, and asynchronous self-resolving midbrain MRI (magnetic resonance imaging) lesions. By using massive gene sequencing, we identified in this patient the c.308G > A (p.Arg103His) homozygous pathogenic variant in the RTN4IP1 gene. Complex movement disorders and relapsing-remitting neuroradiological lesions have not been previously reported in this condition. Our case expands the clinical spectrum of OPA10 syndrome and opens new opportunities for the molecular diagnosis.

Supplementary Material