Anaesthesia in a child with Hutchinson–Gildford progeria

Liessmann, C D

doi:10.1046/j.1460-9592.2001.00721.x

Cited by 21 publications

(29 citation statements)

References 14 publications

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“…[1238910] Anticipation of this problem and adequate intra-operative preparedness is necessary to avoid failed intubation catastrophes. Preservation of spontaneous breathing until control of airway is established and the use of special intubation aids like laryngeal mask airways, fibreoptic bronchoscopes, bougies, etc., and methods like awake intubation, blind intubation, emergency tracheostomy, etc., are some of the recommended management methods.…”

Section: Discussionmentioning

confidence: 99%

“…Preservation of spontaneous breathing until control of airway is established and the use of special intubation aids like laryngeal mask airways, fibreoptic bronchoscopes, bougies, etc., and methods like awake intubation, blind intubation, emergency tracheostomy, etc., are some of the recommended management methods. [1238910] Difficult patient-positioning and increased susceptibility to pressure injuries and skin avulsions due to skeletal and skin abnormalities, potential for peri-operative myocardial ischemia or hemodynamic instability due to co-existent cardiac disease, and requirement for modified anesthesia protocols in keeping with the physiological changes and multi-systemic derangements of old age are some of the other perioperative concerns in HGPS patients. [123]…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by pre-mature ageing, severe growth failure (average height ~100 cm, average weight ≤12-15 kg), short life span (mean survival age ~13 years) and very early onset atherosclerosis manifesting as cerebrovascular and coronary artery disease. [123] Atherosclerosis of the cerebral vasculature can predispose HGPS patients to intra-cranial hematomas even with seemingly minor trauma. [4] We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after a minor injury; intra-operative tracheal intubation difficulty was encountered in this patient.…”

Section: Introductionmentioning

confidence: 99%

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Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns

et al. 2013

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Hutchinson–Gilford progeria syndrome (HGPS) is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns

et al. 2013

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“…Some patients present in infancy with a torticollis [Franklyn, 1976], and a cervicothoracic kyphosis is not uncommon [Variot and Pironneau, 1910; Strunz, 1929; Chawla et al, 1986; Monu et al, 1990]. Other reported orthopedic problems include acute arthritis of a hip in the neonatal period [Makous et al, 1962], dislocated shoulders [Liesmann, 2001], scoliosis [Rodriguez et al, 1999; De Paula Rodrigues et al, 2002], and avascular sclerosis of the femoral head [Curtin and Kotzen, 1929; Moen, 1982; Fernandez‐Palazzi et al, 1992].…”

Section: Mobilitymentioning

confidence: 99%

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

491

490

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from literature are presented. The incidence in the last century in the Netherlands was 1:4,000,000. Sex ratio was 1.2:1. Main first symptoms were failure to thrive (55%), hair loss (40%), skin problems (28%), and lipodystrophy (20%). Mean age at diagnosis was 2.9 years. Growth in weight was more disturbed than growth in height, and growth delay started already prenatally. Mean height > 13 years was 109.0 cm, mean weight was 14.5 kg. Osteolysis was wide‐spread but not expressed, except in the viscerocranium, and remained limited to membranous formed bone. Lipodystrophy is generalized, only intra‐abdominal fat depositions remain present. Cardiovascular problems are extremely variable, both in age of onset and nature. Stroke and coronary dysfunctioning are most frequent. Pathologic findings in coronaries and aorta resemble sometimes the findings in elderly persons, but can also be much more limited. Loss of smooth muscle cells seems the most important finding. Mean age of demise was 12.6 years. Patients can be subdivided in patients with classical HGPS, which follows an autosomal dominant pattern of inheritance, (almost) all cases representing spontaneous mutations, and in non‐classical progeria, in whom growth can be less retarded, scalp hair remains present for a longer time, lipodystrophy is more slowly progressive, osteolysis is more expressed except in the face, and survival well into adulthood is not uncommon. Pattern of inheritance of non‐classical progeria is most probably autosomal recessive. The cause of HGPS is an abnormally formed Lamin A, either directly by a mutated LMNA gene, or through abnormal posttranslational processing (ZMPSTE24 gene mutations). Of 34 LMNA mutations found in progeria patients, there were 26 classical p.G608G mutations (76%). Pathogenesis is most likely to follow several different pathways. Potential therapeutic strategies are developed along these lines and include RNA interference techniques and inhibition of the dominant‐negative influence of abnormally formed Lamin A on polymerization with normally formed Lamin A. © 2006 Wiley‐Liss, Inc.

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“…Hutchinson‐Gilford progeria syndrome (HGPS), commonly referred to as progeria, was first described in 1886 by Dr Hutchinson and later in 1901 by Dr Gilford. It is a rare childhood syndrome (incidence 1 in 8 million live births) that results in premature aging, severe growth failure, and very early‐onset atherosclerosis, resulting in cardiovascular comorbidity as main cause of death . HGPS belongs to a group of progeroid laminopathies, which are characterized by a mutated form of LMNA, known as progerin .…”

Section: Introductionmentioning

confidence: 99%

Anesthetic considerations in children with Hutchinson‐Gilford progeria syndrome: A narrative review

Nijs

Velde

Hoogma

2020

Pediatric Anesthesia

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Background Hutchinson‐Gilford progeria syndrome is a rare disease in childhood that results in premature aging. The presence of multisystem derangements including skin, bone, and joint diseases and possibly a difficult airway makes the anesthetic management challenging. Because of the extremely low prevalence, experience is limited even for experienced pediatric anesthesiologists. Objective To review the available literature on anesthesia for patients with Hutchinson‐Gilford progeria syndrome and to give recommendations for establishing the best practice for patients with Hutchinson‐Gilford progeria syndrome. Design A narrative review of the rare existing literature. Date sources CENTRAL (Cochrane), EMBASE, Google Scholar, MEDLINE and PubMed. Eligibility criteria Articles addressing anesthesia in patients with Hutchinson‐Gilford progeria syndrome were included. Results An overview of the current literature was made on anesthesia care for patients with Hutchinson‐Gilford progeria syndrome. After screening the literature, only ten articles were found to be of interest and include some case reports and a correspondence. The focus points on how to perform anesthesia care in patients with Hutchinson‐Gilford progeria syndrome and the entire perioperative care are suggested. The available data are limited and results need to be interpreted with caution. Conclusion The patients with Hutchinson‐Gilford progeria syndrome are not just “frail” patients. Awareness concerning intubation difficulties is mandatory, and airway strategies must be addressed in advance. Although these patients present with the physiology of an elderly with accompanying comorbidities, emotionally they are only children and should be approached as such.

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Anaesthesia in a child with Hutchinson–Gildford progeria

Cited by 21 publications

References 14 publications

Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns

Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Anesthetic considerations in children with Hutchinson‐Gilford progeria syndrome: A narrative review

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