Disorder characterized by Kearns-Sayre syndrome, presenting with limited diffusion within subcortical white matter, accompanied by muscle atrophy in extraocular muscles.
A recent case study has shed light on a unique development in a patient diagnosed with Kearns-Sayre Syndrome (KSS), a rare mitochondrial disorder. The patient, initially an 8-year-old boy, presented with right eyelid ptosis [3].
KSS is characterised by progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects, often caused by a large deletion in the mitochondrial DNA [2]. The disorder also affects muscles, the central nervous system, and the endocrine system [1].
The patient's initial MRI at the age of 8 showed mild cerebral atrophy and high signal areas in the left caudate nucleus and dorsal midbrain [3]. By the age of 20, the MRI revealed restricted diffusion in lesions in the left caudate nucleus, globi pallidi, pyramidal tracts, middle cerebellar peduncles, paravermal areas, brainstem, and bilateral subcortical white matter including U-fibers [3]. This marks a significant change in MRI findings 10 years after the initial MRI, a finding that is unique in the context of KSS [4].
The primary imaging modality for KSS is MRI, which can show cerebral atrophy and white matter changes, although these are more commonly associated with other neurological conditions [1]. Long-term neuroimaging in KSS might show progressive cerebral atrophy and potential white matter changes, but these are not typically well-documented in literature beyond general descriptions [4].
The progression of KSS is marked by worsening of the clinical symptoms, including increased muscle weakness, worsening cardiac function, and potential cognitive decline [4]. Imaging studies may reflect these changes through signs of brain atrophy or worsening of white matter lesions over time [4].
However, it's important to note that the mitochondrial nature of KSS means that imaging may not capture the full extent of mitochondrial dysfunction, which is central to the disease's progression [4].
For a comprehensive understanding of KSS progression, clinical monitoring and genetic testing are crucial, as they help in assessing the disease's impact and guiding management strategies [4]. The diagnosis of KSS requires the presence of at least one of several specific symptoms, including cardiac conduction abnormalities, cerebellar ataxia, high CSF protein levels, short stature, endocrine abnormalities, or cognitive decline [2].
This case study highlights the importance of long-term imaging follow-up studies in understanding the progression of KSS beyond 10 years. While such studies are relatively scarce, they could provide valuable insights into the disease's unique imaging findings and help develop more effective management strategies.
- The unusual development in the KSS patient, as seen in the long-term MRI follow-up, suggests that chronic diseases like KSS might have hidden implications for health and wellness, particularly in relation to mental health and neurological disorders due to the disease's impact on the central nervous system.
- The patient's MRI findings over 10 years reveal an escalation in medical-conditions, such as lesions in the brainstem and subcortical white matter, which are often associated with neurological disorders.
- Despite the primary imaging modality for KSS revealing cerebral atrophy and white matter changes, there is a lack of comprehensive documentation on the long-term progression of chronic diseases like KSS, particularly those affecting the neurological system, in scientific literature.
