PURPOSE: The multi-organ involvement of mitochondrial diseases means that patients are likely to be more vulnerable to sleep disturbances. We aimed to assess if early recognition and treatment of obstructive sleep apnea (OSA) in patients with Leigh disease may influence primary disease outcome. METHODS: We describe a case of adult-onset Leigh disease presenting as severe brainstem encephalopathy of subacute onset. Based on the clinical symptoms that developed after the appearance of the neurological disease, an attended overnight polysomnography examination was performed. RESULTS: A marked clinical recovery was seen after administration of high doses of thiamine, coenzyme Q, L-carnitine, and vitamins C and E, combined with effective treatment with continuous positive airway pressure for the underlying severe obstructive sleep apnea (OSA). The latter condition was diagnosed on the basis of suggestive symptoms that appeared a few weeks before the establishment of the neurological disease. The improvement in the neurological disease (based on clinical and brain MRI features) with the appropriate medical treatment also resulted in a significant improvement in the OSA. CONCLUSIONS: Early recognition and treatment of sleep apnea may not only improve sleep and overall quality of life but also ameliorate the deleterious effects of nocturnal desaturations on the neurological features. This may be crucial for disease outcome when added to the generally advised pharmacological therapy.
PURPOSE: The multi-organ involvement of mitochondrial diseases means that patients are likely to be more vulnerable to sleep disturbances. We aimed to assess if early recognition and treatment of obstructive sleep apnea (OSA) in patients with Leigh disease may influence primary disease outcome. METHODS: We describe a case of adult-onset Leigh disease presenting as severe brainstem encephalopathy of subacute onset. Based on the clinical symptoms that developed after the appearance of the neurological disease, an attended overnight polysomnography examination was performed. RESULTS: A marked clinical recovery was seen after administration of high doses of thiamine, coenzyme Q, L-carnitine, and vitamins C and E, combined with effective treatment with continuous positive airway pressure for the underlying severe obstructive sleep apnea (OSA). The latter condition was diagnosed on the basis of suggestive symptoms that appeared a few weeks before the establishment of the neurological disease. The improvement in the neurological disease (based on clinical and brain MRI features) with the appropriate medical treatment also resulted in a significant improvement in the OSA. CONCLUSIONS: Early recognition and treatment of sleep apnea may not only improve sleep and overall quality of life but also ameliorate the deleterious effects of nocturnal desaturations on the neurological features. This may be crucial for disease outcome when added to the generally advised pharmacological therapy.
Authors: P C Goldenberg; R D Steiner; L S Merkens; T Dunaway; R A Egan; E A Zimmerman; G Nesbit; B Robinson; N G Kennaway Journal: Neurology Date: 2003-03-11 Impact factor: 9.910
Authors: Anna Park; Mihee Oh; Su Jeong Lee; Kyoung-Jin Oh; Eun-Woo Lee; Sang Chul Lee; Kwang-Hee Bae; Baek Soo Han; Won Kon Kim Journal: Int J Mol Sci Date: 2021-04-30 Impact factor: 5.923
Authors: Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro Journal: Genet Med Date: 2014-12-11 Impact factor: 8.822