Fatal Hypertensive Crisis as Presentation of Mitochondrial Complex I Deficiency

Abstract

Complex I deficiency is a frequent defect of the mitochondrial electron transport chain. We report on a 3-year-old boy, who rapidly deteriorated after sudden flushing and collapse. This fatal and unusual case was characterized by widely uncontrollable arterial hypertension. It might indicate that hypertensive crisis could be a potential manifestation of mitochondrial disorders.

Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

“…Three cases reaching hypertensive crisis level with fatal outcome have been described, one of which was subsequently diagnosed with complex I deficiency (Lohmeier et al 2007;Pamphlett and Harper 1985;Narita et al 1998). Similarly to the patient in Lohmeier's report, our patient presented with signs of autonomic dysfunction and altered vasomotor tone such sweatiness and dusky extremities, which could support the hypothesis of centrally mediated vasomotor dysregulation (Lohmeier et al 2007;Zelnik et al 1996). Interestingly, two of these reported cases displayed normal catecholamine levels, whereas in our case levels were elevated.…”

“…It seems plausible to assume a neurogenic blood pressure dysregulation as the areas of necrosis in the brainstem comprise the nucleus tractus solitarii, an area central to cardiorespiratory reflex integration (Saito 2009;Lohmeier et al 2007). This functional area has also been implicated in the characteristic pattern of sighing respirations and post-sigh apnoeas often seen in Leigh syndrome (Saito 2009).…”

Successful recovery from severe hypertension in a patient with Leigh syndrome

“…Hypertension is uncommon as a presenting sign in mitochondrial respiratory chain disorders, but four cases of hypertensive crisis have been reported ( Table. 1 ) [ [6] , [7] , [8] , [9] ]. All of the cases had respiratory abnormalities, brain stem lesions involving the medulla oblongata, needed multiple antihypertensive agents and died within several months.…”

“…Usually, patients with SURF-1 deficiency have reduced activity in complex IV and relatively mild symptoms and better survival [ 4 , 5 ]. Hypertension is rarely associated with this condition, but based on previous reports, usually indicates the terminal phase of the illness [ [6] , [7] , [8] , [9] ]. We report a case of LS with SURF-1 mutation complicated by fulminant hypertension where the patient survived.…”

JIMD Reports, Volume 19

“…Three cases reaching hypertensive crisis level with fatal outcome have been described, one of which was subsequently diagnosed with complex I deficiency (Lohmeier et al 2007;Pamphlett and Harper 1985;Narita et al 1998). Overall, hypertension has only rarely been reported as a presenting sign in mitochondrial respiratory chain disorders.…”