Anesthetic management in Joubert syndrome

We review the anesthetic implications of Joubert syndrome and report that spinal anesthesia under intravenous propofol sedation proved satisfactory for repair of an inguinal hernia in a spontaneously ventilating infant with this syndrome. We caution that anatomical peculiarities may complicate performance of a caudal epidural block and suggest consideration of the use of caffeine to ameliorate the apneic episodes seen in early infancy in this syndrome.     

Anaesthetic management in McKusick-Kaufman syndrome

The cardinal features of McKusick-Kaufman syndrome (MKS) are polydactyly and hydrometrocolpos. Sometimes, this abdominopelvic mass may restrict pulmonary function and decrease the oxygenation of the newborn. We present a case of MKS and review the clinical features and appropriate anaesthetic management. A 45-day-old girl, weighing 4450 g, born at term, presented to our Paediatric Surgery Department with abdominal distention, diarrhoea and vomiting, which started on the 15th day of life. On physical examination, peripheral cyanosis, tachycardia and tachypnoea were found. A prominent mass was palpated in the lower abdomen. There was vaginal atresia and a sixth digit was found on her left foot. There was a large cystic mass extending from the pelvis to the level of L1 displacing the diaphragm, and bilateral hydroureteronephrosis were seen on plain abdominal X-ray, ultrasonography and computerized tomography. In the preanaesthetic assessment, the patient was evaluated for multiple congenital anomalies. Our management of anaesthesia, for a neonate with severe hydrometrocolpos compressing the diaphragm, consisted of gastric decompression and preoxygenation before tracheal intubation, routine and airway pressure monitoring, periodic analyses of blood gases and maintenance of anaesthesia with a low concentration of volatile agent, together with an opioid.     

Anaesthetic management for Edward's syndrome

We report the anaesthetic management for a Cohen procedure in a girl with Edward's syndrome (trisomy 18). Information in the literature about anaesthetic management in trisomy 18 patients is poor. The patients are dysmorphic, have severe mental retardation and multiple organ malformations of which congenital heart disease is the most important. Our patient was a 7 year-old girl, such a survival being exceptional with trisomy 18. Anaesthesia is high risk and pain assessment is difficult. Establishing good relations with the family and appraising the need for surgical procedures are the main other difficulties.     

Anaesthetic management of a child with Pallister-Killian syndrome

Pallister-Killian syndrome is characterized by tetrasomy of the short arm of chromosome 12p, which produces mental retardation of varying degrees and dysmorphic characteristics. We describe anaesthesia in a 2-year-old child affected by this syndrome who underwent surgery for orchidopexy. Anaesthetic consisted of an inhalation mixture of O2, N2O and sevoflurane, together with an inguinal block with ropivacaine and administration of alfentanil plus ketorolac. Tracheal intubation was uneventful. No complications of any type were observed.     

Anaesthetic management of a parturient with the postural orthostatic tachycardia syndrome: a case report

Postural orthostatic tachycardia syndrome encompasses a groupof disorders characterized by orthostatic intolerance. We describethe anaesthetic management of analgesia for labour and of Caesareansection in a parturient suffering from this disorder. Worseningof her symptoms during pregnancy was managed with an increasein the dose of ß-blockers taken by the patient. Epiduralanalgesia was instigated early to attenuate the stress of labourand avoid consequent triggering of a tachycardic response. Slowtitration of epidural analgesia and anaesthesia after an adequatefluid preload was undertaken to minimize hypotension and subsequenttachycardia. Neuraxial opioid, combined with non-steroidal anti-inflammatorydrugs and bilateral iliohypogastric and ilioinguinal nerve blockswere used to optimize postoperative analgesia.     

Anaesthetic management of two paediatric patients with Hecht–Beals syndrome

We undertook the anaesthetic management of two children with Hecht-Beals syndrome for orthopaedic surgery under general anaesthesia. Both patients had arachnodactyly, kyphoscoliosis, and multiple congenital joint contractures, but limited mandible excursion was not obvious preoperatively in either, although mental retardation made it difficult for them to cooperate with mouth examination. They had no apparent difficulties with their mouths in daily activities. The anaesthesia records of one patient showed that intubation had been difficult in an earlier procedure. The other patient also had a history of difficult intubation, with slight tearing of the corners of her mouth during an intubation procedure. During slow induction of general anaesthesia with sevoflurane, face mask ventilation was easily performed. We attempted to visualize the larynx under anaesthesia with muscle relaxation, but we were unsuccessful because of the limited mouth opening. After several trials, blind oral intubations were fortunately successful in both patients. There were no postoperative problems with the airway.     

Anaesthetic management in children with metachromatic leukodystrophy

We present a case of metachromatic leukodystrophy in a child who required surgery for gastro-oesophageal reflux. In spite of his demyelinating disease, we used a lumbar epidural technique with general anaesthesia; the epidural catheter allowed us to continue the analgesia postoperatively and to avoid opioids in this high risk patient.     

Anaesthetic management of children with tuberous sclerosis

BACKGROUND: Tuberous sclerosis (TS) is a hamartomatous disease that usually presents with cutaneous and intracranial lesions, but can also affect other organ systems. METHODS: In this report, we retrospectively reviewed the perioperative course of 24 children with TS who had medically intractable seizures as the primary disease process. RESULTS: Cardiac rhabdomyoma was detected in 11 of 18 patients who had a cardiac evaluation, and coexisting congenital heart defects were diagnosed in six. Ten of 17 patients who had a renal evaluation were diagnosed with renal TS, presenting with azotaemia in one and hypertension in four. The major perioperative complications in the 52 anaesthetics, included death (a neonate after cardiac rhabdomyoma resection), seizures (five patients) and bradyarrhythmias (two patients). CONCLUSIONS: Patients with TS and neurological disorders frequently have coexisting cardiac and renal disease as well. Patients with TS should be evaluated for these organ specific disorders prior to surgery.     

Anaesthetic management of the newborn with multiple congenital epulides

Epulis of the newborn is a granular cell tumour that originatesfrom the dental alveolar mucosa. We report a case of a neonatewith multiple congenital masses of the alveolar mucosa who presentedfor surgery with a potential airway problem. Intubation wasachieved uneventfully using a gaseous induction with a largefacemask and displacement of the epulides to allow cautiouslaryngoscopy.     

Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask

We report the anaesthetic management of a nine-year-old, 6.8 kg, 75 cm tall female with the Kenny-Caffey syndrome presenting for strabismus surgery. Dysmorphic features in our patient included a hypoplastic mandible. A neonatal (size 1) laryngeal mask was successfully used for management of the airway whilst providing surgical access. The general features of this rare syndrome are presented and the literature reviewed.     

Anaesthetic management of hepatic artery chemoembolization in a paediatric patient

We present a case of a 3-year-old child who underwent hepatic artery chemoembolization. The anaesthetic management, prophylaxis of tumour lysis syndrome, nausea and vomiting and the management of perioperative pain relief are all discussed.     

Anaesthetic management of a patient with myotonic dystrophy

A 13-year-old boy with myotonic dystrophy underwent insertion of a percutaneous gastrostomy feeding tube under general anaesthesia. We used a laryngeal mask airway and a spontaneously breathing technique with propofol total intravenous anaesthesia. Postoperative vomiting and aspiration, 12 h after the procedure, subsequently required intubation and ventilation. We discuss the anaesthetic management of this case and review the features of the disease to be considered when contemplating anaesthesia in such patients.     

Anaesthetic management of a patient with achondroplasia

A 12-year-old girl diagnosed with achondroplasia was admitted for bilateral ear surgery and adenotonsillectomy. She had classical symptoms and signs of upper airway obstruction, which is often seen in patients with achondroplasia. We describe the anaesthetic management of this patient, emphasizing the airway difficulties encountered and their anaesthetic implications.     

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis

 There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features. Received December 30, 1996; received in revised form and accepted May 8, 1997     

Anaesthetic management of a child with fibrodysplasia ossificans progressiva

Fibrodysplasia Ossificans Progressiva (FOP) is a rare inheriteddisease in which progressive ossification of striated musclesleads to severe disability and respiratory impairment earlyin life and there are associated characteristic congenital skeletalmalformations. Although this condition may prove demanding forthe anaesthetist, few reports are available regarding anaesthesiain paediatric patients. We review the clinical features of thedisease relevant to anaesthesia and describe the perioperativecare of an 18-month-old boy with FOP who underwent endoscopicthird-ventriculostomy for hydrocephalus associated with a brainstemmass. We emphasize the importance of an appropriate anaestheticmanagement of these patients, as inadequate care may lead toexacerbation of the disease with permanent sequelae.     

Anaesthesia for Rett syndrome

Rett syndrome is a devastingly disabling neurological disease that is only observed in girls. Scoliosis occurs in roughly half the girls and surgery may be required. Anaesthesia is described in three patients. Sudden death may be a feature of the disease which occurred four weeks postoperatively in one case. Although a long QT_c interval may be seen, it did not occur in any of our cases.     

Anaesthetic implications of LEOPARD syndrome

LEOPARD syndrome is a neuroectodermal disorder presumed to result from an abnormality in neural crest cells. The acronym 'LEOPARD' is derived from the clinical features which include multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and deafness. Given the multisystem nature of the disease process, several issues may affect the perioperative care of these patients. Of primary importance are associated conditions of the cardiovascular system including congenital heart disease, conduction disturbances, and progressive hypertrophic obstructive cardiomyopathy. The authors present a 4-year old boy who presented for anaesthetic care for repair of a ventricular septal defect and pulmonary valvotomy for congenital pulmonary stenosis. The potential perioperative implications of LEOPARD syndrome are discussed.     

Anaesthetic management of a parturient with Laron syndrome

We report a case of a parturient with Laron syndrome, a rare form of dwarfism which results from an inability to generate insulin-like growth factor 1. In addition to dwarfism these patients may have craniofacial abnormalities, atlantoaxial instability, spinal stenosis and metabolic, musculoskeletal and genitourinary abnormalities. The patient underwent an urgent caesarean section using combined spinal-epidural anaesthesia. Laron syndrome is reviewed and its anaesthetic implications discussed.     

Anaesthesia and Prader-Willi syndrome

A review of a case series of sixteen anaesthetics in eight cases was undertaken to determine whether children with Prader-Willi syndrome present particular problems to the anaesthetist. Children in an early stage of the condition who are below their centile for weight present no specific problems. Children who are heavier than 97th centile weight have problems associated with their obesity: difficult intravenous access and sleep apnoea. Scoliosis was noted in both groups and was not associated with problems after minor surgery.