Anaesthesia for Cockayne syndrome

Wooldridge, W. J.; Dearlove, Oliver; Khan, AM

doi:10.1111/j.1365-2044.1996.tb07795.x

Cited by 14 publications

(10 citation statements)

References 8 publications

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“…Conversely, three reports have diagnosed CS in children whose facial appearances match COFS [Patton et al, 1989;Wooldridge et al, 1996;Choong et al, 1997]. Given the similarities between severe CS and COFS, as well as the abundant evidence of XP or CS gene mutations in COFS, COFS appears to be a severe form of CS rather than a distinct syndrome.…”

Section: Severe Csmentioning

confidence: 99%

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

104

109

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Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype. The variation is sufficiently wide that CS patients have traditionally been described in three different severity groups. Unfortunately, there is no single source for information about the different severity groups. This problem can complicate not only diagnosis, but accurate prognosis as well. The goal of this study was to describe the phenotypic variation in CS as completely as possible. This article provides extensive descriptions of traits common to each group and their degree of severity in each group. Forty-five people with CS were surveyed and information from the published literature was used to increase the sample sizes for calculations. This study provides new information, including statistical data for each of the three severity groups (mean age at death, average head circumference, and average length or stature). The study includes cerebro-oculo-facial syndrome (COFS) as a severe form of CS, based on results of recently published genetic studies performed by other authors. This study proposes revised names for CS severity groups: severe, moderate, and mild. The groups were formerly called Type II/early onset CS, Type I/classical CS, and Type III/atypical/mild/late-onset CS, respectively. A fourth newly documented group, UV sensitivity only/adult onset, is also described. Average ages of death were calculated as 5.0 years (severe), 16.1 years (moderate), and 30.3 years (mild).

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Section: Severe Csmentioning

confidence: 99%

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

104

109

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“…There are several perioperative concerns to consider when [11][12][13][14][15][16][17][18][19][20]. As with any anesthetic care, appropriate preoperative preparation begins with a thorough history and physical examination.…”

Section: Discussionmentioning

confidence: 99%

Perioperative Care of a Pediatric Patient With Cockayne Syndrome

Khawaja

Tobias

2017

J Med Cases

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First described in 1936, Cockayne is an autosomal recessive neurodegenerative disorder characterized by dwarfism, premature aging, impaired development of the nervous system, dental complications, abnormal photosensitivity, and optic atrophy. Of primary concern to anesthesia providers is the potential for a difficult airway related to many physical features including micrognathia, a small mouth, large teeth, overbite, limited mouth opening, and restriction of temporomandibular joint movement. Additional comorbid involvement includes associated coronary artery disease, hypertension, and diabetes. The perioperative implications of Cockayne syndrome are discussed, previous perioperative reports are reviewed, and options for anesthetic care are presented.

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“…We noticed macrodontia, fused incisors, and high arched palate in the present case [ 7 ]. Woodridge et al in 1996 reported difficult airway and intubation management and increased risk of gastric, later cachexia and accelerated aging issues as the most commonly encountered anesthetic problems in CS patients [ 8 ]. In addition to the above reasons, restricted temporomandibular joint movements and mouth opening made to opt for nasotracheal intubation general anesthesia in the present case.…”

Section: Discussionmentioning

confidence: 99%