scholarly journals Anesthetic management with a neuromuscular relaxant and sugammadex in a patient with Prader–Willi syndrome: A case report

2020 ◽  
Vol 8 ◽  
pp. 2050313X2092761
Author(s):  
Kyung Woo Kim ◽  
Seung Hwan Kim ◽  
Eun Jin Ahn ◽  
Hyo Jin Kim ◽  
Hey Ran Choi ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
Neuromuscular Blocking ◽  
Neuromuscular Blocking Agents ◽  
Facial Features ◽  
Prader Willi Syndrome ◽  
Respiratory Complications ◽  
Ophthalmic Surgery ◽  
Neuromuscular Relaxant

Prader–Willi syndrome is a genetic disorder that is characterized by obesity, characteristic facial features, hypotonia, and sleep apnea. These abnormalities mean that airway management is difficult in such patients. Several previous reports suggest that neuromuscular blocking agents should not be used to reduce airway and respiratory complications in these patients. However, this is not always possible. Here, we report the case of a patient with Prader–Willi syndrome in whom anesthesia for ophthalmic surgery was managed successfully using sugammadex after administration of rocuronium.

scholarly journals Sugammadex and Reversal of Neuromuscular Block in Adult Patient with Duchenne Muscular Dystrophy

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Ahmed Abdelgawwad Wefki Abdelgawwad Shousha ◽  
Maria Sanfilippo ◽  
Antonio Sabba ◽  
Paolo Pinchera
Keyword(s):  
Muscular Dystrophy ◽  
Neuromuscular Block ◽  
Severe Form ◽  
Neuromuscular Blocking ◽  
Neuromuscular Blocking Agents ◽  
Respiratory Complications ◽  
Rocuronium Bromide ◽  
Prolonged Recovery ◽  
Recovery From Anesthesia ◽  
Duchenne's Muscular Dystrophy

Duchenne’s muscular dystrophy (DMD) is the most common and severe form of myopathy. Patients with DMD are more sensitive to sedative, anesthetic, and neuromuscular blocking agents which may result in intraoperative and early postoperative cardiovascular and respiratory complications, as well as prolonged recovery from anesthesia. In this case report, we describe a 25-year-old male patient admitted for cholecystectomy under general anesthesia. We induced our anesthesia by oxygen, propofol, fentanyl, and rocuronium bromide. Maintenance was done by fentanyl, rocuronium bromide, sevoflurane, and O2. We report in this case the safety use of sugammadex to antagonize the neuromuscular block and rapid recovery in such category of patients.

scholarly journals Anesthetic management during endocardial radiofrequency ablation of septal hypertrophy – a case report

2019 ◽  
Vol 47 (3) ◽  
pp. 244-250
Author(s):  
J. H.Z. Viesi ◽  
C. Nigro Neto ◽  
B. P. Valdigem ◽  
I. M. Dornelles ◽  
S. C. Passos ◽  
...  
Keyword(s):  
Case Report ◽  
Radiofrequency Ablation ◽  
Valsalva Maneuver ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
Left Ventricular ◽  
Outflow Tract ◽  
Therapeutic Modality ◽  
Maximum Gradient ◽  
Septal Hypertrophy

Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder present in up to 1/500 individuals, about 20–30% of them presenting with hypertrophic obstructive cardiomyopathy (HOCM) due to left ventricle outflow tract obstruction. This is an important cause of sudden cardiac death. Endocardial radiofrequency ablation of septal hypertrophy (ERASH) might be an attractive treatment for HOCM, particularly in patients who do not respond to transcoronary alcohol septal ablation (TASA).Aim: To describe technical aspects related to the procedure and anesthetic management of an ERASH case.Case report: A 64-year-old woman with HOCM was scheduled for ERASH. She had worsening of dyspnea on exertion and generalized fatigue for the previous weeks after previous surgical myomectomy about 6 months ago. The anatomy was unfavorable for TASA and the patient was not willing to undergo another surgery. Preoperative transthoracic echocardiography (TTE) showed asymmetric mid-septal hypertrophy, systolic anterior motion with septal contact and left ventricular outflow tract maximum gradient of 68 mmHg at rest and 105 mmHg after the Valsalva maneuver. General anesthesia was performed. Pulse pressure variation, echocardiography parameters and passive leg raising test where used to guide fluid therapy. At the end of the procedure, analgesia was provided together with prophylaxis of nausea and vomiting. Extubation was uneventful and the patient was transported to the intensive care unit eupneic and hemodynamically stable. On the fourth postoperative day, TTE showed septal  hypocontractility and maximum gradient reduction of 33% at rest (68 mmHg to 45 mmHg) and 31% after the Valsalva maneuver (105 mmHg to 73 mmHg). The patient was discharged from hospital at the sixth postoperative day. One month later, she reported progressive improvement of symptoms and expressed satisfaction with the results.Conclusion: Better understanding of the pathophysiology and natural history of HCM has enabled earlier diagnosis, as well as a more adequate therapeutic approach. Anesthesiologists should be aware of the pathophysiology of HOCM and must be prepared to anticipate the hemodynamic changes and cardiovascular instability that such patients may show perioperatively. ERASH is a promising therapeutic modality increasingly used for HOCM and anesthesiologists should become more familiar with it.

scholarly journals Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Xiu-Fen Liu ◽  
Dong-Xin Wang ◽  
Daqing Ma
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscle Weakness ◽  
Motor Neurons ◽  
Genetic Disease ◽  
Muscular Atrophy ◽  
Anesthetic Management ◽  
Neuromuscular Blocking ◽  
Neuromuscular Blocking Agents ◽  
Spinal Muscular Atrophy Type ◽  
Type Iv

Spinal muscular atrophy (SMA) is a rare genetic disease characterized by degeneration of spinal cord motor neurons, which results in hypotonia and muscle weakness. Patients with type IV SMA often have onset of weakness from adulthood. Anesthetic management is often difficult in these patients as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents as shown by (Lunn and Wang; 2008, Simic; 2008, and Cifuentes-Diaz et al.; 2002). Herein we report a case of anesthetic management of a patient with SMA type IV for mammectomy and review some other cases of SMA patients receiving different kinds of anesthesia.

scholarly journals ATP8A2 and AKAP10 Gene Mutations in a Patient with Prader-Willi Syndrome: A Case Report and Literature Review

2020 ◽  
Vol 30 (4) ◽  
Author(s):  
Kemi Wu ◽  
Yanfei Tang ◽  
Qiong Zhou ◽  
Chaochun Zou
Keyword(s):  
Developmental Delay ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Poor Response ◽  
Hereditary Diseases ◽  
Cardiac Conduction ◽  
Facial Features ◽  
Compound Heterozygous ◽  
Prader Willi Syndrome ◽  
Exon 2

Introduction: Prader-Willi syndrome (PWS) is an epigenetic disease. Cerebellar ataxia, mental retardation, and disequilibrium syndrome type 4 (CAMRQ4) is a genetic disorder caused by ATP8A2 gene mutation. AKAP10 gene is related to autosomal dominant cardiac conduction defect and cardiac susceptibility. Here, we report a PWS infant with ATP8A2 and AKAP10 mutations, who presented multiple dysmorphic features and review correlative literature. Case Presentation: A 3-month-old boy presented to our unit because of developmental delay after birth. He had a poor response, feeble cry, hypotonia of extremities, empty scrotum, and characteristic facial features. The whole-exome sequencing showed c.187C>G (p.P63A) in exon 2 originated from his father and c.2138T>C (p.I713T) in exon 23 originated from his mother, which were compound heterozygous variants of the ATP8A2 gene. A c.43delC heterozygous variant in exon 1 of the AKAP10 gene was also detected. Genetic analysis revealed normal copy numbers but abnormal methylation in the 15q11-13 region, which implied nondeletion type PWS. Conclusions: In patients with dysmorphic facial features, hypotonia and developmental delay, PWS should be considered in the differential diagnosis. Moreover, other complicated hereditary diseases should be considered in patients with PWS.

scholarly journals Anesthetic Management in Pediatric Patient with Prader-Willi Syndrome: A case report

2004 ◽  
Vol 47 (3) ◽  
pp. 439
Author(s):  
Sam Hong Min ◽  
Choon Hak Lim ◽  
Hye Won Lee ◽  
Hae Ja Lim ◽  
Suk Min Yoon ◽  
...  
Keyword(s):  
Case Report ◽  
Pediatric Patient ◽  
Anesthetic Management ◽  
Prader Willi Syndrome
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