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LETTER TO EDITOR
Year : 2021  |  Volume : 69  |  Issue : 6  |  Page : 1885

The Phenotypic Spectrum of Progressive External Ophthalmoplegia Plus is Broader than Anticipated


Klinik Landstrasse, Messerli Institute, Vienna, Austria

Date of Submission07-Sep-2020
Date of Decision17-Mar-2021
Date of Acceptance17-Mar-2021
Date of Web Publication23-Dec-2021

Correspondence Address:
Dr. Josef Finsterer
Postfach 20, 1180 Vienna
Austria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.333452

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How to cite this article:
Finsterer J. The Phenotypic Spectrum of Progressive External Ophthalmoplegia Plus is Broader than Anticipated. Neurol India 2021;69:1885

How to cite this URL:
Finsterer J. The Phenotypic Spectrum of Progressive External Ophthalmoplegia Plus is Broader than Anticipated. Neurol India [serial online] 2021 [cited 2022 Jan 19];69:1885. Available from: https://www.neurologyindia.com/text.asp?2021/69/6/1885/333452




Dear Sir,

With interest, we read the article by Maghbooli et al.[1] about the phenotypic and genotypic spectrum of patients with progressive external ophthalmoplegia (PEO) plus. We want to contribute the following points to the discussion.

Several phenotypic features of PEO plus were not addressed in the review. The phenotypic manifestations of PEO plus not mentioned in the review are hypopituitarism in Kearns-Sayre syndrome (KSS), leading to poly-endocrinopathies and short stature.[2] Not mentioned were posterior white matter lesions (WMLs) in a patient carrying POLG1 variants.[3] Also not mentioned in the review was basal ganglia calcification being reported in a patient with KSS. Movement disorder with choreatiform movements was reported as a phenotypic manifestation in another patient with KSS. Not discussed in the review was dystonia having been reported in a patient with PEO plus due to a POLG1 variant.[4] Not to forget, PEO plus patients may additionally present with affection of the vestibular system, which may not only lead to abnormal ocular movements but also to vertigo and thus gait disturbance.[4]

Cardiac involvement not addressed was dilated, right atrium and heart block in a patient carrying POLG1 variants.[3] Missing is dilated cardiomyopathy in a patient with KSS. Systolic dysfunction with a fractional shortening ranging from 5 to 19% was described in five patients with PEO plus due to single mtDNA deletions. Asymmetric septal hypertrophy was described in a patient with KSS, diagnosed only upon the phenotype. Patients with KSS are prone to develop not only atrioventricular blocks but also ventricular arrhythmias, that is why they may need implantation of an implantable cardioverter-defibrillator (ICD).

Patients with KSS may present with autoimmune hypothyroidism. In a patient with PEO plus due to a PEO1 variant, acute onset dysphagia has been reported. Not mentioned was acute liver failure in a patient carrying POLG1 variants. Focal segmental glomerulosclerosis together with PEO has been reported in a 20 years old man carrying the variant m.3243A > G. KSS patients may develop orthopedic problems, such as severe scoliosis, as has been reported in an Italian patient. Scoliosis has been also reported in PEO plus patients other than KSS.

In conclusion, the phenotypic spectrum of PEO plus is more widespread than anticipated. Patients with PEO plus should be prospectively investigated for multisystem involvement to start symptomatic treatment as soon as the diagnosis is established. Particularly, cardiac disease should be recognized in time as it may strongly determine the outcome of PEO plus patients.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Maghbooli M, Ghaffarpour M, Ghazizadeh T, Shalbaf NA, MalekMahmoudi G. Clinicogenetical variants of progressive external ophthalmoplegia - An especial review of non-ophthalmic manifestations. Neurol India 2020;68:760-8.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Berio A, Piazzi A. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. Pediatr Med Chir 2013;35:137-40.  Back to cited text no. 2
    
3.
Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, et al. The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review. Neuromuscul Disord 2015;25:333-9.  Back to cited text no. 3
    
4.
Rossi M, Medina Escobar A, Radrizzani M, Tenembaum S, Perandones C, Merello M. Dystonia in a patient with autosomal-dominant progressive external ophthalmoplegia type 1 caused by mutation in the POLG gene. Mov Disord Clin Pract 2016;4:266-9.  Back to cited text no. 4
    




 

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