Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia.

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragg...

Classical triad of Kearns-Sayre syndrome.

To cite: Sharma AK, Jain N, Kharwar RB, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016216500 DESCRIPTION We describe the images of a 27-year-old man presenting with recurrent syncope due to complete heart block (figure 1). The patient, on further examination, showed ophthalmoplegia, bilateral ptosis (figure 2) and pigmentary retinopathy (figure 3). Ke...

Kearns-Sayre syndrome

The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development ofprogressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that...

[Kearns-Sayre syndrome].

The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and...

Kearns Sayre syndrome: neuroimaging findings in 8 cases