Angelman syndrome as a rare anaesthetic problem

Bujok, Grzegorz; Knapik, Piotr

doi:10.1046/j.1460-9592.2003.01188.x

Cited by 22 publications

(37 citation statements)

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“…Emergence was felt to be prolonged. They recommended avoidance of benzodiazepines and halogenated ether volatile agents [4]. Gardner et al described a 9 year old female with Angelman syndrome anaesthetised for diagnostic laparoscopy to investigate an ovarian mass [6].…”

Section: Discussionmentioning

confidence: 99%

“…Other features of Angelman syndrome with relevance to anaesthesia include: microcephaly, protruding tongue, sucking ⁄ swallowing disorders, truncal hypotonia in infancy, prognathism, drooling, obesity and scoliosis [2]. Structural cardiac abnormalities [3], and peripheral muscular atrophy, have been described in Angelman syndrome [4]. Adult patients may experience severe gastro-oesophageal reflux [5].…”

mentioning

confidence: 99%

“…Patients with Angelman syndrome most commonly present for dental or orthopaedic work [5]. Anaesthesia for patients with Angelman syndrome has been associated with bradycardia and cardiac arrest [4,6].…”

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Anaesthesia for an adult with Angelman syndrome

Maguire

2009

Anaesthesia

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SummaryAngelman syndrome is a complex genetic condition involving abnormalities of chromosome 15 in the majority of cases. These defects involve a gene encoding an ubiquitin protein ligase and may be associated with abnormal γ‐aminobutyric acid (GABA)A receptor subunits. Angelman syndrome may have profound implications for anaesthesia: potential exists for airway difficulties; refractory bradyarrythmias; and pharmacodynamic unpredictability. A case of an adult with Angelman syndrome undergoing dental work under general anaesthesia is presented. Induction and maintenance of anaesthesia was unremarkable but emergence was complicated by generalised muscular hypertonia and temporary respiratory embarrassment which resolved spontaneously.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Anaesthesia for an adult with Angelman syndrome

Maguire

2009

Anaesthesia

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“…In 2 Fällen waren Strabismusoperationen durchgeführt worden; hierbei war einmal eine totale intravenöse Anäs-thesie (TIVA) angewendet worden, und in beiden Fällen wurde keine spezifische "Postoperative-nausea-and-vomiting"-(PONV-)Prophylaxe vermerkt [33,34]. Eine Operation war gynäkologisch [19], eine traumatologisch [40], 2 otorhinolaryngologisch [1,24], und 5 Operationen waren durch zahnärztliche Behandlung bedingt [7,17,18,23,28,37]. Zwei Fallberichte beziehen sich auf ein-und dieselbe Narkose [17,18].…”

Section: Fallvorstellungen Aus Der Literaturunclassified

“…In 4 Fällen waren Neostigmin oder Pyridostigmin in Kombination mit Glycopyrronium standardmäßig zur Antagonisierung der neuromuskulä-ren Blockade eingesetzt worden [23,28,34,37]. In einem Fall war Thiopental [7], in 2 Fällen Ketamin zum Einsatz gekommen. In einem dieser Fälle hatte eine Einleitung mit Propofol und Ketamin stattgefunden, die Narkose war mit Sevofluran und Fentanyl fortgeführt worden, jeweils in -nichtangegebenen -geringen Dosierungen, um die Narkose über verschiedene Rezeptortypen auszuführen (GABA A , NMDA, Opiat; [17,18] [34].…”

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Anästhesie beim Angelman-Syndrom

2011

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Angelman syndrome (AS) is a rare neurodevelopmental disorder with an incidence of 1:10,000-1:40,000 caused by deficient genetic imprinting in the chromosomal segment 15q11-q13. Experimental data suggest that the gamma-aminobutyric acid A (GABA(A)) receptor as well as the N-methyl-D-aspartate (NMDA) or α-amino-3-hydroxy-5-methyl-4-isoxazole proprionic acid (AMPA) receptors may be affected by this condition. The first description of the syndrome goes back to 1965 when the British pediatrician Harry Angelman (1915-1996) recognized similar clinical features in three children. Angelman's description of puppet children was changed to happy puppet syndrome 2 years later before this euphemistic denotation was replaced by the concept Angelman syndrome over the years. Angelman syndrome is characterized by ataxia, jerky movements especially hand flapping, a seizure disorder with a characteristic electroencephalogram (EEG), severe learning difficulties, a happy disposition, lack of verbal communication and dysmorphic facial features. Most hospitalizations are caused by epilepsy and the most common indications for surgical procedures are in dental medicine. The first anesthesiology case report to be published dates back to 2001. A total of 13 cases have now been published and in 11 cases the age was registered (mean age 11.6 years, standard deviation 11.7 and 2 outliers aged 27 and 40 years). In this paper, the published case reports are contrasted with 15 cases of anesthesia in 6 patients with AS who underwent surgery during 14 years of routine operations at a Berlin anesthesiology clinic (mean age 15.9 years, standard deviation 4.2 with no outliers). Besides neurosurgical and orthopedic operations most were dental interventions. Summarized, these cases of anesthesia and the results of the published case reports allow the formulation of guidelines for administration of anesthesia in AS cases but do not permit conclusions on which method of anesthesia is the safest for AS patients. For the preoperative consultation and anesthetization, communication with the patients requires the aid of parents or other relatives. Water and reflecting surfaces may be used to gain contact with AS patients. Patients with AS feel pain like any other person although they are frequently smiling and laughing and this has to be considered especially in major surgery (e.g. scoliosis surgery). The most important life-threatening complication is bradycardia due to vagal hypertonia which can lead to asystole with delayed response to atropine. None of the Berlin patients had severe bradycardia but the complication has to be taken into consideration. The use of drugs to ensure complete reversal of neuromuscular relaxation should be avoided because anticholinergic agents could cause bradycardia. The use of sugammadex in cases of AS has not been tested. To avoid elevation of the vagal tone, the indications for laparascopy have to be considered very carefully. There is no evidence that any drug or hypnotic may be more appropriate or advantageous. Balanced an...

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