May 27, 2013
An 11-year-old girl with short stature, developmental delay, opthalmoplegia, sensorineural hearing loss (SNHL), and ataxia
Kearns-Sayre Syndrome (KSS)
- KSS is a slowly progressive mitochondrial disorder with onset before age 20 years.
- Clinical Presentation: Ataxia, ophthalmoplegia, retinitis pigmentosa, increased cerebrospinal fluid (CSF) protein. Hearing deficit, endocrinologic dysfunction, and conductive heart block.
- Histopathological findings: Status spongiosus, vacuolization of nervous tissue resulting in a sieve-like appearance. Both gray and white matter are affected, most often the brain stem tegmentum, white matter of the cerebrum (subcortical U fibers) and cerebellum, and basal ganglia.
- Key Diagnostic Features: Basal ganglia siderocalcific deposits. Diffuse cerebral, cerebellar and brainstem atrophy and subcortical areas of T2 prolongation with subcortical calcifications. All cases need not have basal ganglia calcification, and there may only be areas of T2 prolongation in these regions.
- DDx: Other mitochondrial disorders (Leigh’s disease) and leukodystrophies, the distinguishing feature being involvement of the subcortical white matter in KSS as opposed to the deep white matter in leukodystrophies
February 20, 2014
A 23-year-old man with progressive ataxia and oculomotor apraxia. Clinical examination revealed retinitis pigmentosa and moderate bilateral sensorineural hearing loss. Elevated plasma lactate level on examination.
