Cargando…

Anesthetic Management for a Child With a Newly Identified Mitochondrial Disease SLC25A46 Mutation: A Case Report

SLC25A46 mutation is a newly recognized mitochondrial mutation causing neurological and muscular abnormalities. We describe a first-ever report of the anesthetic management of a seven-year-old boy with an SLC25A46 mutation during a major orthopedic procedure. The patient was nonverbal and presented...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nguyen, Thong, Shabot, Sarah, Yngve, David, Abouleish, Amr
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Pediatric Surgery
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645459/ https://www.ncbi.nlm.nih.gov/pubmed/38021708 http://dx.doi.org/10.7759/cureus.47076

Ejemplares similares

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion
por: Schuettpelz, Jana, et al.
Publicado: (2023)

Recurvatum of the Knee in Cerebral Palsy: A Review
por: Yngve, David A
Publicado: (2021)

Intrailiac Osteotomy With Superior Lateral Outcropping Bone: A Previously Undescribed Procedure for Hip Subluxation in Cerebral Palsy
por: Sketchler, Benjamin, et al.
Publicado: (2023)

Anesthetic Challenges in an Infant With Tetralogy of Fallot Posted for Non-cardiac Surgery: A Case Report and Literature Review
por: Verma, Neeta, et al.
Publicado: (2023)

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report
por: Zhang, Ying, et al.
Publicado: (2022)

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
por: Janer, Alexandre, et al.
Publicado: (2016)

Minimally Invasive Parathyroidectomy in a Child With Acute Pancreatitis
por: Ali, Fiaz, et al.
Publicado: (2022)

A Case of Rectovesical Fistula Following Blunt Trauma in a Child
por: Rajan, Yadavalli R D, et al.
Publicado: (2021)

Unusual Solitary Neurofibroma of Common Peroneal Nerve in a Child
por: Kanani, Kashyap, et al.
Publicado: (2022)

Fibroepithelial Polyp in a Child: A Rare Pathology of Upper Urinary Tract Obstruction
por: Alhindi, Saeed, et al.
Publicado: (2020)

Post Traumatic Neuroma in Continuity of the Median Nerve in a Child: A Case Report
por: Giannatos, Vasileios, et al.
Publicado: (2023)

Conservative Management of Acalculous Cholecystitis in a Seven-year-old Child
por: Ng, Jessica Y, et al.
Publicado: (2018)

A Noninvasive Retrograde Flushing System for Shunted Hydrocephalus: Initial Case Series of 25 Patients
por: Falcone, Joseph, et al.
Publicado: (2020)

Left Gastric Artery Pseudoaneurysm Complicating Chronic Calcifying Pancreatitis in a Child
por: Ahmad, Md S, et al.
Publicado: (2023)

A Challenging Surgical Decision in a Child With Bowel Obstruction Secondary to Abdominal Tuberculosis and a Literature Review
por: Almohaidly, Mohammad T, et al.
Publicado: (2023)

One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency
por: Li, Xiaoli, et al.
Publicado: (2022)

Child Abuse and the COVID-19 Pandemic
por: Theodorou, Christina M., et al.
Publicado: (2022)

Tension Pneumothorax During Rigid Bronchoscopy for Chronic Foreign Body Removal in a Child: A Case Report
por: Kumar, Akshay, et al.
Publicado: (2019)

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome
por: Li, Qifei, et al.
Publicado: (2021)

A Constellation of Atypical Findings in a Nine-Year-Old Child With Dysembryoplastic Neuroepithelial Tumors: A Case Report and Review of the Literature
por: Tuohy, Kyle, et al.
Publicado: (2022)

A Cosmetic Approach to Cheek and Nasal Hemangioma Utilizing Open Rhinoplasty in a 10-Year-Old Child: A Case Report
por: Mrad, Mohamed A, et al.
Publicado: (2023)

Improving agreement of ASA physical status class between pre-anesthesia screening and day of surgery by adding institutional-specific and ASA-approved examples: a quality improvement project
por: Abouleish, Amr E., et al.
Publicado: (2020)

Perianal Skin Tags Revealing Asymptomatic Crohn’s Disease in a 12-Year-Old Child With Growth Impairment: A Case Report
por: Bellou, Olga, et al.
Publicado: (2023)

Ketamine-Dexmedetomidine Sedation in the Management of a Child With Generalized Refractory Myasthenia Gravis and Respiratory Insufficiency: Case Report
por: Grenho, Beatriz V, et al.
Publicado: (2023)

Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency
por: Wang, Kena, et al.
Publicado: (2023)

Novel insights into SLC25A46-related pathologies in a genetic mouse model
por: Terzenidou, Maria Eirini, et al.
Publicado: (2017)

Superior Mesenteric Vein Dilatation With Ladd’s Band Causing Partial Intestinal Obstruction in a Five-Year-Old Male Child: A Case Report
por: Saada, Layth J. M., et al.
Publicado: (2023)

Management of Patients With Legg-Calvé-Perthes Disease at a Single Center in Jeddah, Saudi Arabia
por: Al-Osaimi, Majed N, et al.
Publicado: (2022)

Fractured Lateral Humeral Condyle Accompanied by Acute Radial Nerve Palsy in a Child: First Reported Case in the United Arab Emirates
por: Mohamed Samy, Baher, et al.
Publicado: (2023)

The SLC25A42 Transcript Is a Biomarker for Fetal Reprogramming in Response to Placental Insufficiency in Preterm Newborns Under 32 Weeks Gestation—A Pilot Study
por: Chou, Fu-Sheng, et al.
Publicado: (2020)

Serious Rodent Bites to an 8-Month-Old Infant Due to Child Neglect
por: Skarentzos, Konstantinos, et al.
Publicado: (2021)

Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report -
por: Kim, Jeong Yeon, et al.
Publicado: (2021)

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health
por: Duchesne, Amandine, et al.
Publicado: (2017)

A Systematic Review and Meta-Analysis: Do We Still Need Microscope Surgery in Hepatic Artery Anastomosis to Decrease the Incidence of Complications in Living Donor Liver Transplantation?
por: Elkomos, Beshoy, et al.
Publicado: (2023)

Late-Onset Carnitine–Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy
por: Chen, Min, et al.
Publicado: (2020)

Treatment Outcome of Acute Intussusception in Children Under Two Years of Age: A Prospective Cohort Study
por: Thanh Xuan, Nguyen, et al.
Publicado: (2020)

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
por: Wang, Hui, et al.
Publicado: (2022)

Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy
por: Kodal, Louise Sloth, et al.
Publicado: (2022)

Pectoralis Plane Block for Pacemaker Insertion: A Successful Primary Anesthetic
por: Mavarez, Ana C., et al.
Publicado: (2019)

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene
por: Zhou, Yunguo, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_a9dlh4rfqo1jd810fpl2kvjl79