Cargando…
Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome
OBJECTIVE: To describe unusual course and unusual phenotypic features in an adult patient with Kearns–Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and opht...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064856/ https://www.ncbi.nlm.nih.gov/pubmed/32181031 http://dx.doi.org/10.1155/2020/7368527 |
_version_ | 1783504946624200704 |
---|---|
author | Finsterer, Josef Winklehner, Michael Stöllberger, Claudia Hummel, Thomas |
author_facet | Finsterer, Josef Winklehner, Michael Stöllberger, Claudia Hummel, Thomas |
author_sort | Finsterer, Josef |
collection | PubMed |
description | OBJECTIVE: To describe unusual course and unusual phenotypic features in an adult patient with Kearns–Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated CSF protein, cardiac conduction defects, and cerebellar ataxia. The patient presented also with other previously described features, such as diabetes, short stature, white matter lesions, hypoacusis, migraine, hepatopathy, steatosis hepatis, hypocorticism (hyponatremia), and cataract. Unusual features the patient presented with were congenital anisocoria, severe caries, liver cysts, pituitary enlargement, desquamation of hands and feet, bone chondroma, aortic ectasia, dermoidal cyst, and sinusoidal polyposis. The course was untypical since most of the core phenotypic features developed not earlier than in adulthood. CONCLUSIONS: KSS is a multisystem disease, but the number of tissues affected is higher than so far anticipated. KSS should be considered even if core features develop not earlier than in adulthood and if unusual features accompany the presentation. |
format | Online Article Text |
id | pubmed-7064856 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-70648562020-03-16 Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome Finsterer, Josef Winklehner, Michael Stöllberger, Claudia Hummel, Thomas Case Rep Neurol Med Case Report OBJECTIVE: To describe unusual course and unusual phenotypic features in an adult patient with Kearns–Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated CSF protein, cardiac conduction defects, and cerebellar ataxia. The patient presented also with other previously described features, such as diabetes, short stature, white matter lesions, hypoacusis, migraine, hepatopathy, steatosis hepatis, hypocorticism (hyponatremia), and cataract. Unusual features the patient presented with were congenital anisocoria, severe caries, liver cysts, pituitary enlargement, desquamation of hands and feet, bone chondroma, aortic ectasia, dermoidal cyst, and sinusoidal polyposis. The course was untypical since most of the core phenotypic features developed not earlier than in adulthood. CONCLUSIONS: KSS is a multisystem disease, but the number of tissues affected is higher than so far anticipated. KSS should be considered even if core features develop not earlier than in adulthood and if unusual features accompany the presentation. Hindawi 2020-02-27 /pmc/articles/PMC7064856/ /pubmed/32181031 http://dx.doi.org/10.1155/2020/7368527 Text en Copyright © 2020 Josef Finsterer et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Finsterer, Josef Winklehner, Michael Stöllberger, Claudia Hummel, Thomas Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome |
title | Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome |
title_full | Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome |
title_fullStr | Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome |
title_full_unstemmed | Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome |
title_short | Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome |
title_sort | unusual phenotype and disease trajectory in kearns–sayre syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064856/ https://www.ncbi.nlm.nih.gov/pubmed/32181031 http://dx.doi.org/10.1155/2020/7368527 |
work_keys_str_mv | AT finstererjosef unusualphenotypeanddiseasetrajectoryinkearnssayresyndrome AT winklehnermichael unusualphenotypeanddiseasetrajectoryinkearnssayresyndrome AT stollbergerclaudia unusualphenotypeanddiseasetrajectoryinkearnssayresyndrome AT hummelthomas unusualphenotypeanddiseasetrajectoryinkearnssayresyndrome |