Exophthalmos in Kearns-Sayre syndrome

Tauber, Jenna; Polla, Daniel J.; Park, Sunju

doi:10.1016/j.jaapos.2019.05.005

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…Among various features, complete heart block, cerebrospinal fluid protein greater than 100 mg/dL, renal dysfunction, endocrinologic abnormalities including short stature, and diabetes mellitus are significant findings. Affected patients develop their first symptoms before the age of 20 [ 76 , 77 ].…”

Section: Differential Diagnosis Of Other Mitochondrial Disorders Pres...mentioning

confidence: 99%

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

et al. 2022

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COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy. However, due to variable phenotype, it may be hard to distinguish from other mitochondrial diseases and a wide spectrum of childhood-onset cerebellar ataxia. COQ8A-ataxia is a potentially treatable condition with the supplementation of coenzyme Q10 as a main therapy; however, even 50% may not respond to the treatment. In this study we review the clinical manifestation and management of COQ8A-ataxia, focusing on current knowledge of coenzyme Q10 supplementation and approach to further therapies. Moreover, the case of a 22-month-old girl with cerebellar ataxia and developmental regression will be presented.

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Section: Differential Diagnosis Of Other Mitochondrial Disorders Pres...mentioning

confidence: 99%

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

et al. 2022

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Exophthalmos associated with chronic progressive external ophthalmoplegia

et al. 2022

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Frequency of Thyrotoxicosis in Patients Presenting with Unilateral Proptosis in District Headquarters Teaching Hospital D.I.Khan

Khan,

Rehman,

Rehman

et al. 2024

PJHS

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Thyrotoxicosis is a medical disorder marked by retraction of the eyelids, resulting in a wide-eyed or gazing appearance. This syndrome can occur in patients with any form of hyperthyroidism as a result of increased activity of the sympathetic nervous system. Objectives: To investigate the prevalence of thyrotoxicosis and factors contributing to unilateral proptosis, with a specific focus on early diagnosis and prompt treatment. Methods: A cross-sectional study was conducted from January 2023 to January 2024 and categorical variables were presented with the frequency and percentage. The study had a total of 62 patients who exhibited unilateral proptosis. The clinical examinations involved a comprehensive collection of medical history, examination of eyes, analysis of blood samples, evaluation of thyroid function, and utilization of advanced imaging techniques. The associations between thyrotoxicosis and demographic variables were evaluated using chi-square tests. Data were entered and analyzed on SPSS version 26. Results: The mean age of participants was 27.84 ± 6.8 years and female comprised 54.8% of the total. It was observed that female had a greater incidence rate (73.5%) compared to male (53.6%) (p>0.05). Additional findings included retrobulbar tumors (16.1%), cavernous sinus thrombosis (12.9%), and idiopathic proptosis (6.5%). The prevalence of thyrotoxicosis was highest among individuals aged 15-30 (p<0.05). The most common symptom linked with thyrotoxicosis was diplopia (33.9%) (p<0.05). Conclusions: Thyrotoxicosis has a major role in causing unilateral proptosis, especially in female and younger persons. Being female and experiencing pain may serve as predictors for thyrotoxicosis.

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Exophthalmos in Kearns-Sayre syndrome

Cited by 3 publications

References 4 publications

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

Exophthalmos associated with chronic progressive external ophthalmoplegia

Frequency of Thyrotoxicosis in Patients Presenting with Unilateral Proptosis in District Headquarters Teaching Hospital D.I.Khan

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