Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia.

Background: Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G.

Case Presentation: This case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS.

Tolosa-Hunt Syndrome and Hemorrhagic Encephalitis Presenting in a Patient after COVID-19 Vaccination Followed by COVID-19 Infection.

The presence of neurological symptoms within the clinical range of COVID-19 disease infection has increased. This paper presents the situation of a 45-year-old man having the medical antecedent diabetes mellitus, who presented to the emergency department with fever, headache, and respiratory symptoms, nine days following vaccination with the Ad26.COV2-S COVID-19 vaccine.