Leigh's disease: a cause of arterial hypertension

Pamphlett, Roger; Harper, Clive

doi:10.5694/j.1326-5377.1985.tb123019.x

Cited by 9 publications

(11 citation statements)

References 15 publications

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“…Overall, hypertension has only rarely been reported as a presenting sign in mitochondrial respiratory chain disorders. 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).…”

Section: Discussionsupporting

confidence: 81%

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

et al. 2014

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Mitochondrial disease can present with a wide range of clinical phenotypes, and knowledge of the clinical spectrum of mitochondrial DNA mutation is constantly expanding. Leigh syndrome (LS) has been reported to be caused by the m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A). We present a case of a 12-month-old infant initially diagnosed with tachyarrhythmia requiring defibrillation, subsequent presentation with hypertension and hyponatraemia secondary to renal salt loss and presumed inappropriate ADH secretion. Complex I activity in the muscle tissue was 54%, and mutation load in the muscle and lymphocytes was 50%. This case of Leigh syndrome caused by the m.13513G>A mutation in the ND5 gene illustrates that hyponatraemia due to renal sodium loss and inappropriate ADH secretion and hypertension can be features of this entity in addition to the previously reported cardiomyopathy and WPW-like conduction pattern and that they present additional challenges in diagnosis and management.

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Section: Discussionsupporting

confidence: 81%

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

et al. 2014

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“…The disturbed respiration observed in patients with such brainstem lesions has been described as respiratory distress, Cheyne-Stokes, rapid irregular, apneic, irregular, intermittent hyperpnea, shallow and sighing [20,23]. Hypertension and dysphagia in Leigh syndrome are also attributable to destruction of the solitary tract nucleus (NTS) [9,18,20]. Our observations have confirmed the presence of these problems in this syndrome.…”

Section: Discussionsupporting

confidence: 78%

“…Based on the presence of these lesions, along with those in basal ganglia and cerebellum, we regarded Patients 5 and 6 as having Leigh syndrome with an overlapping phenotype of other mitochondrial encephalopathies. The disturbed respiration observed in patients with such brainstem lesions has been described as respiratory distress, Cheyne-Stokes, rapid irregular, apneic, irregular, intermittent hyperpnea, shallow and sighing [20,23]. Hypertension and dysphagia in Leigh syndrome are also attributable to destruction of the solitary tract nucleus (NTS) [9,18,20].…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Breathing Abnormality in Leigh and its Overlap Syndromes

Yasaki¹,

Saito²,

Nakano³

et al. 2002

Neuropediatrics

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In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients. Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed.

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“…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.…”

Section: Discussionmentioning

confidence: 99%