A Clinicopathological and Brain Mri Study in Egyptian Children With Mitochondrial Disorders

Selim, I.; Abdel-ghaffar, Hasan; Hamdi, M.; Hagras, Amal; Nakhla, Gina A.; Kamel, Ahmed

doi:10.1055/s-2006-943587

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“…9 Neuropathy has previously been found in a small cohort of LHON patients. 19 However, another study found only 1 in 104 LHON patients to have neuropathy. 20 Supporting these findings, we found an association between LHON patients and an increased prevalence of neurologic symptoms and neuropathy.…”

Section: Discussionmentioning

confidence: 99%

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Vestergaard

Rosenberg

Torp‐Pedersen

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients.METHODS. This study, based on Danish nationwide health registries, included 141 patients diagnosed with LHON and 297 unaffected family members in the maternal line. The incidence of comorbidities and mortality for patients with LHON and unaffected family members was compared with that in the general population.RESULTS. Having LHON was associated with an almost 2-fold risk of mortality with a rate ratio (RR) of 1.95 (95% confidence interval [CI]: 1.47-2.59; P < 0.001). The incidence of several diseases was increased for LHON patients, but not for family members. The incidence of stroke was 5.73 per 1000 patient-years for LHON patients compared to 2.33 for the general population, and the RR was 2.38 (95% CI: 1.58-3.58; P < 0.001). The incidence of demyelinating disorders was 2.24 compared to 0.21 for the general population; RR was 12.89 (95% CI: 6.70-24.77; P < 0.001). A 4-fold risk of dementia was seen for LHON patients (RR: 4.26, 95% CI: 1.91-9.48; P < 0.001), incidence 1.45 for LHON and 0.37 for the general population. Moreover, LHON patients had an increased risk of epilepsy, atherosclerosis, nerve symptoms, neuropathy, and alcohol-related disorders.CONCLUSIONS. The manifestation of LHON was associated with increased mortality and increased incidence of several disorders including stroke, demyelinating disorder, dementia, and epilepsy.

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Section: Discussionmentioning

confidence: 99%