Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a common form of mitochondrial disease. The typical clinical presentation of LHON is subacute, painless loss of vision resulting from bilateral optic nerve atrophy. Moreover, extra-ocular manifestations such as cardiac conduction abnormalities and neurological manifestations such as multiple sclerosis (MS) like disease or parkinsonism are encountered in some patients. Abnormal findings in spinal cord MR imaging or in the cerebrospinal fluid (CSF) have been observed in previous cases of LHON-associated myelopathy. CASE PRESENTATION: We report a male patient with LHON who developed symptoms of myelopathy including gait unsteadiness, enhanced deep tendon reflexes and sensory loss of the lower extremities. Imaging of the brain and spinal cord, CSF analysis, as well as neurography and electromyography did not disclose any abnormalities. The somatosensory evoked potential (SEP) findings were suggestive of dorsal column dysfunction. CONCLUSIONS: The patient case demonstrates that myelopathy associated with LHON can present without abnormal findings in central nervous system MR imaging or in the CSF, and without evidence suggestive of multiple sclerosis or MS-like disease. The dorsal column seems to be particularly vulnerable to myelopathy changes in LHON. Evoked potential investigations may assist in confirming the diagnosis, when clinical features are in line with myelopathy but findings in CSF analysis and central nervous system imaging are normal.

Treatment of sleep apnoea with tonsillectomy: a retrospective analysis using long-term follow-up data.

PURPOSE: This single-group, retrospective, pre-test-post-test study was performed to examine clinical outcomes in treating obstructive sleep apnoea (OSA) with tonsillectomy alone and had the longest follow-up periods to date. METHODS: We analysed 151 tonsillectomies in our district between the years 2004 and 2018 that had either sleep apnoea or snoring listed as a diagnosis. Twenty-one patients met our criteria and were included. Patient records were analysed for home sleep apnoea test and Epworth Sleepiness Scale (ESS) scores. RESULTS: We defined success as a > 50% reduction of the Apnoea-Hypopnea Index (AHI) and a total AHI of < 20 post-surgery. The averages before surgery were an AHI of 22.3 and an ESS of 7.22. The success rate was 47.6% after tonsillectomy as the sole treatment for obstructive sleep apnoea in our adult population. Eleven patients were non-responders. The average ESS score reduction was 0.69 and did not reach statistical significance. With follow-up times ranging from 1.8 to 171 months, this study had the longest follow-up period compared to other existing studies. No patient with a follow-up longer than one year was a responder. CONCLUSION: Our results support that tonsillectomy is an effective treatment for obstructive sleep apnoea in adults with tonsillar hypertrophy. With less severe OSA than those reported on previously, our patients also had less severe daytime sleepiness before surgery, and daytime sleepiness score reductions did not reach statistical significance. In the future, long-term results should be further analysed.

[Respiratory disturbance during sleep induced by vagus nerve stimulator]. / Vagusstimulaattorin aiheuttama unenaikainen hengityshäiriö.

Vagus nerve stimulation can be used in parallel with drug therapy as adjuvant therapy for severe epilepsy. In approximately half of the patients the number of seizures decreases by at least 50%. The most common adverse effects reported for the therapy include mild laryngeal and upper respiratory tract symptoms and dysfunctions, and in some cases, also development of respiratory disturbances during sleep. We describe two patients in whom vagus nerve stimulation induced sleep apnea. The problem was resolved by changing the settings of the stimulator. Sleep apnea syndrome should be kept in mind when planning vagus nerve stimulation therapy and monitoring the response to therapy.