Hip Dislocation After Correction for Scoliosis in an Adolescent with Angelman Syndrome: A Case Report.

CASE: Although scoliosis is common in Angelman syndrome (AS), there are no reports of hip dislocation as a complication of scoliosis surgery. We experienced a case of hip dislocation after posterior spinal instrumentation and fusion from T4 to L5 because of scoliosis progression in an adolescent girl with AS. Postoperatively, posterior dislocation of the left hip occurred; after closed reduction, instability remained. Thus, periacetabular osteotomy was performed (left hip), with good clinical outcomes. CONCLUSION: Especially in cases of abnormal muscle tone, a loss of spinal flexibility because of extensive spinal fixation may result in secondary pathologies of the hip joint.

Strabismus surgery in Angelman syndrome: More than ocular alignment.

PURPOSE: To report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between improvement in ocular alignment and changes in motor skills in this population. DESIGN: Observational cross-sectional study. METHODS: Medical records of pediatric patients with Angelman syndrome, who underwent strabismus surgery, were investigated. Collected data included: genotype, gender, age at the time of surgery, refractive error, pre-operative strabismus, surgical procedure, surgical outcome, gross and fine motor development assessment pre- and post-operatively. RESULTS: Seventeen subjects, aged 3-15 years, were investigated. Fourteen patients were exotropic, three esotropic. Most patients presented astigmatism. Considering the exaggerated response to standard amounts of surgery and the risk of consecutive strabismus on long term follow-up reported by previous studies in children with developmental delay, a reduction of the amount of strabismus surgery was applied. Post-operatively, all patients presented with a significative reduction of the baseline deviation angle, with all esotropic patients and 7 exotropic patients (59%) achieving orthotropia. The surgical outcomes were variable according to the type and the amount of baseline strabismus, but no case presented with exaggerated surgical response. At baseline, patients showed important delays in all motor abilities, and, post-operatively, presented a significant improvement in walking and fine motor tasks. Pre- and post-operative motor abilities were negatively correlated to astigmatism, anisometropia, and amount of deviation. CONCLUSIONS: According to our data, the standard nomograms for strabismus surgery may be successfully applied in subjects with Angelman syndrome and exotropia. Our data suggest that the reduction of the deviation angle improves motor skills in strabismic pediatric patients with Angelman syndrome.

Perioperative considerations in the patient with Angelman syndrome.

Angelman syndrome arises by one of 4 genetic mechanisms. Patients often have craniofacial abnormalities, vagal hypertonia, skeletal muscle atrophy or underdevelopment, a history of seizure disorders, and pharmacodynamic unpredictability. Its pathogenesis, clinical manifestations, diagnosis and treatment options, and perioperative anesthetic considerations are presented.

Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome.

UNLABELLED: We describe a patient with Angelman syndrome with severe developmental delay who was visually impaired by uncorrected high hyperopia and poor control of accommodation. Refractive lens exchange with intraocular lens implantation was performed in both eyes when the patient was 22 years of age. Satisfactory anatomical and functional outcomes were achieved and maintained during 3 years of follow-up. Refractive lens exchange can be useful in patients with severe neurobehavioral disorders in the presence of high refractive error and poor accommodative control. FINANCIAL DISCLOSURE: Neither author has a financial or proprietary interest in any material or method mentioned.

[Anesthetic management of a child with Angelman's syndrome].

Angelman syndrome is a hereditary disease described by Angelman. The clinical features of Angelman syndrome are characterized by mental retardation, puppet-like ataxia, easily excitable personality, seizures, paroxysmal laughter, strabismus and macroglossia. A 4-year-old girl with Angelman syndrome underwent strabismus repair under general anesthesia. Anesthesia was slowly induced with sevoflurane in oxygen and maintained with air, oxygen, propofol and remifentanil. Tracheal intubation was performed after administration of rocuronium. During and after anesthesia, no adverse events regarding circulatory and respiratory systems occurred. However, this case demonstrates that it is necessary to pay attention to airway troubles including the difficulty of tracheal intubation, management of body temperature and chronotropic action or respiratory depression by anesthetic agents.

Consideraciones anestesiológicas en el Síndrome de Angelman / Thoughts on anesthesiology in cases of Angelman Syndrome

Se presenta un paciente de 13 años de edad con síndrome de Angelman que debe ser sometido a cirugía (colocación de clavo endomedular) por presentar una fractura de húmero derecho. Dada la baja incidencia de este padecimiento, 1 en 4 millones de nacidos vivos4, y a las implicancias anestesiológicas del mismo, nos pareció interesante compartir nuestro caso. Clínicamente se caracteriza por presentar retraso mental severo con ataques de risa compulsiva, ausencia de habla, ataxia cerebelosa, distonía del sistema esquelético, defectos morfológicos de los huesos faciales, convulsiones, alteración del ritmo sueño-vigilia. El síndrome de Angelman está asociado a alteraciones genéticas en el cromosoma 15. Justamente en este cromosoma están codificados genes que participan en la expresión de subunidades del receptor GABA-A, lo cual además de justificar algunas manifestaciones del síndrome, constituye un hecho anestesiológico interesante, ya que sobre dicho receptor actúan muchos de los anestésicos que utilizamos a diario. Se realizó anestesia general balanceada con inducción inhalatoria y un bloqueo del plexo braquial. Se discuten algunas características del síndrome y sus implicancias anestesiológicas.

We present a 13 year-old patient with Angelman syndrome who was admitted for surgery (reduction and internal fixation of right humerus fracture with intramedulary naif). We decided to share our case because of the low incidence of this disease, 1 in 4 million live births and the anesthesiologic implications. The clinical manifestations of this syndrome are severe mental retard with compulsory laughter, lack of speech, cerebellar ataxia, dystonia of the skeletal system, morphological defect of the facial bones, seizures and sleep disturbance. The Angelman syndrome is associated with genetic alterations in the 15 chromosome. The genes responsible of the expression of GABA-A receptor subunits, are codified in this chromosome, therefore this genetic alteration is related not only to the manifestations of this syndrome but has also interesting anesthetic implications, if we consider that many of the anesthetics agents used in our daily practice are thought to activate GABA-A receptors. We performed a balanced general anaesthesia with inhaled induction and a brachial plexus block. We discuss the characteristics of this syndrome and the anesthesiologic implications.

Paciente de 13 anos de idade com síndrome de Angelman precisa ser submetido a cirurgia (colocação de prego endomedular) por apresentar fratura do úmero direito. Por causa da baixa incidencia deste padecimento (um por cada quatro milhóes de nascidos vivos) e suas implicações anestesiológicas, consideramos de interesse compartilhar o nosso caso. O paciente caracteriza-se clinicamente por apresentar retardamento mental acentuado com ataques de riso compulsivo, ausencia de fala, ataxia cerebelar, distonia do sistema esquelético, defeitos morfológicos nos ossos faciais, convulsóes e alteração do ciclo sono-vigilia. A síndrome de Angelman associa-se a variações genéticas no cromossomo 15. Precisamente neste cromossomo estao codificados os genes que participam na expressão de subunidades do receptor GABA-A, que além de explicar algumas manifestaçóes da síndrome, constitui um fato anestesiológico interessante, já que muitos anestésicos utilizados habitualmente atuam sobre esse receptor. Foi feita anestesia geral balanceada com indução inalatória e bloqueio do plexo braquial. Sao analisadas algumas características da síndrome e suas implicações anestesiológicas.

Anaesthesia for Angelman syndrome.

We describe the administration of anaesthesia to a patient with Angelman syndrome, which is characterised by an abnormality of chromosome 15, where a subunit of the GABA receptor is coded. This has far-reaching anaesthetic implications as many drugs used in anaesthesia are thought to act via GABA receptors. Our patient had an uneventful peri-operative period and was discharged home on the second postoperative day.