Identical twins with progressive kyphoscoliosis and ophthalmoplegia

Maziar Emamikhah; Gholamali Shahidi; Elaheh Amini; Alfonso Fasano; Anthony E Lang; Carolina Gorodetsky; Ali Ahani; Mohammad Rohani

doi:10.1016/j.parkreldis.2020.12.009

Identical twins with progressive kyphoscoliosis and ophthalmoplegia

Parkinsonism Relat Disord. 2021 Nov:92:119-122. doi: 10.1016/j.parkreldis.2020.12.009.

Authors

Maziar Emamikhah¹, Gholamali Shahidi², Elaheh Amini¹, Alfonso Fasano³, Anthony E Lang³, Carolina Gorodetsky⁴, Ali Ahani⁵, Mohammad Rohani⁶

Affiliations

¹ Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
² Department of Neurology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
³ The Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Brain Institute, Toronto, Ontario, Canada.
⁴ Department of Pediatrics, Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.
⁵ Mendel Genetics and Pathology Laboratory, Tehran, Iran.
⁶ Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address: [email protected].

PMID: 34844747
DOI: 10.1016/j.parkreldis.2020.12.009

Abstract

The possible differential diagnoses for children presenting with kyphoscoliosis, skeletal deformities and ophthalmoplegia are diverse. We present 11-year-old identical twins with these symptoms, with interesting etiological concern for those practicing in the fields of neurology, pediatrics, spine surgery and related specialties. A new presentation for a rare genetic condition was the final diagnosis for our patients. In this movement disorder round we describe our approach to this clinical constellation and discuss clinical significance of this genetic condition.

Keywords: DYT-TOR1A; Dystonia; Homozygous; Torsin-1 A.

Publication types

Case Reports
Video-Audio Media

MeSH terms

Child
Diseases in Twins / genetics*
Humans
Kyphosis / genetics*
Male
Movement Disorders / genetics*
Ophthalmoplegia / genetics*
Scoliosis / genetics*