Anästhesie beim Angelman-Syndrom

Abstract

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...

Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature

“…These characteristics could complicate assessment of pain postoperatively. Witte et al ( 13 ) described a patient with Angelman syndrome where pain could not be assessed following spinal surgery for scoliosis and a later open reduction and internal fixation for a metacarpal traumatic fracture. In our series we could not retrospectively determine if postoperative pain management was confounded, but no patients were reported to have pain or were administered analgesic medications ( Table 2 ) despite the fact that some procedures had the potential to be painful (i.e., strabismus surgery, adenotonsillectomy).…”

“…These patients may have craniofacial abnormalities and excessive drooling that could complicate airway management ( 7 , 12 ). Lastly, these patients have a “happy” demeanor, which can confound pain severity assessment ( 13 ).…”

Are children with Angelman syndrome at high risk for anesthetic complications?

“…Witte et al. (19) remind anesthesiologists to be extra vigilant for bradycardia during laparoscopic procedures There was no documentation of severe bradycardia episodes in our patients.…”

“…Pretreatment with atropine or glycopyrrolate to prevent bradycardia during a procedure performed under general anesthesia has been recommended by some authors (3,18). Witte et al (19) remind anesthesiologists to be extra vigilant for bradycardia during laparoscopic procedures There was no documentation of severe bradycardia episodes in our patients.…”

Sugammadex: Applications in Pediatric Critical Care

“…Furthermore, sugammadex has been shown to be safe and effective in patient populations with contraindications to reversal of neuromuscular blockade with acetylcholinesterase inhibitors such as myotonic dystrophy and Angelman's syndrome. [42][43][44] Heart Transplant Recipients…”