Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report

Salik, Irim; Kubal, K.; Barst, Samuel M.

doi:10.1213/xaa.0000000000000906

Cited by 2 publications

(3 citation statements)

References 11 publications

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“…Whether the barrel thorax was due to cardiac involvement remains speculative but is rather unlikely given the high number of MID patients with cardiac involvement but without this thorax deformity described in the literature. Facial dysmorphism is a common finding in MIDs, which has been previously reported [11,19]. Most of the other phenotypic features are common in MIDs, except for camptocormia, which has been reported only in POLG1 mutation carriers.…”

Section: Discussionmentioning

confidence: 91%

“…The index patient is noteworthy for the orthopedic abnormalities described above which have not been reported in combination. Orthopedic abnormalities previously reported in MID include scoliosis [4], genu valga [5], gibbus [6], pectus carinatum (pigeon breast) [7], brachydactylia [8], foot deformities [9], skeletal dysplasia [10], Kniest dysplasia [11], and camptocormia ( Table 2) [3]. Inwardly rotated feet and barrel thorax have not been reported in MIDs.…”

Section: Discussionmentioning

confidence: 99%

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Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report

Finsterer

Chatterjee

Ghosh

2020

Cureus

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Objectives: Camptocormia and other orthopedic abnormalities have been only rarely reported as a phenotypic manifestation of a mitochondrial disorder (MID). Here we present an MID patient with multiple orthopedic abnormalities dominating the phenotype. Case report: The patient is a 55-year-old male in whom MID was diagnosed at age 34 upon clinical presentation, muscle biopsy, and biochemical investigations. Phenotypically, he manifested with multisystem disease including the brain (mental retardation, epilepsy, sleep disorder, cerebellar atrophy), eyes (cataract, myopia), ears (hypoacusis), heart (hypertrophic, cardiomyopathy, QT-prolongation, left anterior hemiblock, noncompaction), intestines (hepatopathy, cholecystolithiasis), muscle (myopathy), peripheral nerves (neuropathy), and the bone marrow (anemia). Additionally, there was facial dysmorphism (upslanting palpebral fissures, hypertelorism, protruding bulbs) and multiple orthopedic abnormalities, including camptocormia in the absence of axial myopathy, barrel thorax, gibbus, genu valga, knee contractures, bilateral gonarthrosis, bilateral ankle arthroses, and outwardly rotated feet. These abnormalities were complicated by wedge vortex, vertebral stenosis, and coxarthrosis requiring right hip endoprosthesis. His mother manifested with a largely different phenotype. Conclusions: An MID can manifest phenotypically with orthopedic abnormalities, which may dominate the phenotype. According to this case, orthopedic abnormalities in a MID can be unrelated to the severity of myopathy and intrafamilial phenotypic variability can be high in a MID.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report

Finsterer

Chatterjee

Ghosh

2020

Cureus

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“…14,15 While a ketogenic diet is being used for clinical care of mitochondrial disease patients, potential interactions between VAs and a ketogenic diet in the setting of genetic mitochondrial disease have not been tested. Given that mitochondrial disease patients can require a range of surgical interventions from muscle biopsy and dental care to epilepsy surgery, scoliosis repair, and heart valve repair, 5,[16][17][18][19][20][21] probing interactions between clinical interventions and anesthesia is considered prudent.…”

Section: Introductionmentioning

confidence: 99%

Impact of dietary ketosis on volatile anesthesia toxicity in a model of Leigh syndrome

Spencer,

Howe,

Mulholland

et al. 2024

Pediatric Anesthesia

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BackgroundGenetic mitochondrial diseases impact over 1 in 4000 individuals, most often presenting in infancy or early childhood. Seizures are major clinical sequelae in some mitochondrial diseases including Leigh syndrome, the most common pediatric presentation of mitochondrial disease. Dietary ketosis has been used to manage seizures in mitochondrial disease patients. Mitochondrial disease patients often require surgical interventions, leading to anesthetic exposures. Anesthetics have been shown to be toxic in the setting of mitochondrial disease, but the impact of a ketogenic diet on anesthetic toxicities in this setting has not been studied.AimsOur aim in this study was to determine whether dietary ketosis impacts volatile anesthetic toxicities in the setting of genetic mitochondrial disease.MethodsThe impact of dietary ketosis on toxicities of volatile anesthetic exposure in mitochondrial disease was studied by exposing young Ndufs4(−/−) mice fed ketogenic or control diet to isoflurane anesthesia. Blood metabolites were measured before and at the end of exposures, and survival and weight were monitored.ResultsCompared to a regular diet, the ketogenic diet exacerbated hyperlactatemia resulting from isoflurane exposure (control vs. ketogenic diet in anesthesia mean difference 1.96 mM, Tukey's multiple comparison adjusted p = .0271) and was associated with a significant increase in mortality during and immediately after exposures (27% vs. 87.5% mortality in the control and ketogenic diet groups, respectively, during the exposure period, Fisher's exact test p = .0121). Our data indicate that dietary ketosis and volatile anesthesia interact negatively in the setting of mitochondrial disease.ConclusionsOur findings suggest that extra caution should be taken in the anesthetic management of mitochondrial disease patients in dietary ketosis.

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Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report

Cited by 2 publications

References 11 publications

Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report

Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report

Impact of dietary ketosis on volatile anesthesia toxicity in a model of Leigh syndrome

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