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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a case of generalized muscle rigidity in a 2-year-old patient with Freeman-Sheldon syndrome undergoing surgery for eventration of the diaphragm after anesthetic induction with halothane and succinylcholine. Anesthetic induction was by mask with oxygen, nitrous oxide and halothane, with succinylcholine as a muscle relaxant. Approximately 10 minutes after start of induction, muscular rigidity appeared and developed rapidly, becoming severe and compromising ventilation. Tracheal intubation was attempted without success, owing to stiffness of the masseter muscles. Sodium dantrolene 2.5 mg/kg was administered and relaxation was achieved immediately for both masseter and peripheral muscles, such that the patient recovered spontaneous breathing. We conclude that there is risk of association between Freeman-Sheldon syndrome and malignant hyperthermia.
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PMID:[Freeman-Sheldon syndrome: generalized muscular rigidity after anesthetic induction]. 805 48

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A, is a rare congenital myopathy and dysplasia characterised by multiple contractures, abnormalities of the head and face, defective development of the hands and feet and skeletal malformations. The facial muscle contracture produces the typical 'whistling face' appearance. Anaesthetic issues include difficult intravenous access, difficult airway and postoperative pulmonary complications. Although an association with malignant hyperthermia has been suggested, this has not been confirmed. We report the management of a seven-year-old girl with Freeman-Sheldon syndrome undergoing anterior and posterior spinal surgery and describe a successful anaesthetic regimen based on a total intravenous anaesthesia technique with remifentanil and propofol without neuromuscular blocking agents. The child had an uneventful anaesthetic and postoperative course. We believe the presence of the myopathy warranted the use of a 'non-triggering' anaesthetic, as suxamethonium and volatile agents may be associated with significant complications such as muscle rigidity and rhabdomyolysis in myopathic patients, even in the absence of malignant hyperthermia.
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PMID:Anaesthetic management of a child with Freeman-sheldon syndrome undergoing spinal surgery. 1836 Oct 19

Freeman-Sheldon syndrome is characterized by typical dysmorphic features of the face (microstomia with putting lips and H-shaped dimpling of the chin, giving the appearance of a whistling face) and symmetrical hands and feet defects (camptodactyly, joint contractures). The intelligence quotient is usually within the normal range. Mutations in the MYH3 gene at 17p13 have been shown to cause the syndrome, inherited as an autosomal dominant trait. Two patients with clinical diagnosis of Freeman- Sheldon syndrome, confirmed by molecular study were described in this article. Additionally, clinical aspects, differential diagnosis and genetic basis of the disease were described as well as medical problems concerning patients with Freeman-Sheldon syndrome were discussed such as anesthetic aspects, malignant hyperthermia and pulmonary complications after surgery. The authors highlight the significance of dysmorphic features in patients with developmental delay and congenital defects as well as indicate the role of multidisciplinary approach in the diagnostic and therapeutic process.
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PMID:[Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study]. 2251

Freeman-Sheldon syndrome is a congenital disorder that has been suggested to be associated with malignant hyperthermia. Clinical features of the Freeman-Sheldon syndrome include flexion contractures and characteristic facial features, including microstomia and a whistling shape to the lips. We report a case of malignant hyperthermia in a 3-year-old girl with microstomia but no other features of Freeman-Sheldon syndrome. The purpose of this report was to review the diagnosis and treatment of malignant hyperthermia as craniofacial surgeons have an increased exposure to this rare and potentially fatal condition.
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PMID:Malignant hyperthermia in a 3-year-old child with microstomia. 2547 78

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.
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PMID:Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years. 2617 33

The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.
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PMID:Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction. 2738 May 84

Freeman-Sheldon syndrome (FSS) or "whistling face" syndrome is a rare congenital disorder complicated by characteristic facial deformities and muscular contractures. We report on a 64-year-old male patient presenting for surgical replacement of his aortic valve and review the available literature on anesthetic considerations and perioperative management principles. FSS frequently poses a significant challenge to airway management and gaining vascular access. Moreover, these patients are reportedly at risk for developing malignant hyperthermia (MH) or neuroleptic malignant syndrome.
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PMID:Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery. 2966 9

Freeman-Sheldon syndrome is a congenital myopathy with a reported prevalence of less than 1 per 1 million. Also known as craniocarpotarsal dysplasia, this syndrome is characterized by muscle contractures and soft-tissue dysplasia of the face, hands, and feet. The resulting musculoskeletal deformities may require multiple orthopedic, ocular, and plastic reconstructive surgeries. The anesthetic challenges include a potentially difficult airway and intravenous access, susceptibility to malignant hyperthermia, and an unpredictable response to muscle relaxants. This report of the anesthetic management of 2 children with Freeman-Sheldon syndrome emphasizes the anesthetic considerations for the successful management of patients with this syndrome.
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PMID:Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review. 3200 16