Manifestation of Long QT syndrome with normal QTc interval under anesthesia: a case report

Patients with congenital Long QT are known to have normal QT interval in symptom-free period and in the early years of life. Precipitating factors like surgical stress, interactions with anesthetic agents prolonging QT interval, and electrolyte imbalances can manifest with life threatening arrhythmias in congenital or acquired Long QT syndrome. We report a case of concealed LQTS manifesting under anesthesia and its subsequent perioperative course.     

A series of anesthesia for a child with Lowe's syndrome]

A series of anesthesia for a child with Lowe's syndrome was reported. The boy underwent general anesthesia for 6 times for ophthalmic and dermatologic surgeries in approximately eight years since the age of only four months when the first anesthesia had been given. From the third to the fifth episodes of anesthesia, marked metabolic acidosis was noted, but at the first and second anesthesia, metabolic acidosis had not been recognized. Such acidosis was corrected each time by 7% NaHCO3 infusion at the early stage of anesthesia, and afterwards uneventful courses were seen. In the last anesthesia, acidosis was not found, though disturbance of renal functions were suspected because of abnormal urinary NAG and beta 2-microglobulin value in blood. Attention should be paid to possible anesthetic hazards in Lowe's syndrome patients such as metabolic acidosis due to the renal-tubular dysfunction, the risk of convulsion, glaucoma, the fragility of the bone structures, and so forth.     

镜像综合征与麻醉

背景 镜像综合征是产科中一类罕见的并发症,危及母婴安全,目前临床对其认识不足.镜像综合征的病理生理较为特殊,麻醉管理有较大的风险. 目的 了解镜像综合征对麻醉管理的可能威胁或挑战. 内容 综述镜像综合征的病理生理、并发症及其与临床麻醉的关系. 趋向 产科麻醉中应警惕该类产科并发症,做好相应的麻醉管理.     

Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome.

Normal reabsorption of glomerular filtrate proteins probably requires recycling of the endocytic receptors megalin (gp330) and cubilin. Both receptors are located on the luminal surface of the renal proximal tubule epithelium. Whether abnormal amounts of receptor are present in the urine of patients with Dent's disease, Lowe's syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored. They are all forms of the renal Fanconi syndrome and are associated with tubular proteinuria. Urine samples of equal creatinine contents were dialyzed, lyophilized, and subjected to electrophoresis on nonreducing sodium dodecyl sulfate-5% polyacrylamide gels. Proteins were blotted and probed with anti-megalin IgG, anti-cubilin IgG, or receptor-associated protein. Megalin and cubilin levels detected by immunochemiluminescence were measured as integrated pixels and expressed as percentages of the normal mean values. A striking deficiency of urinary megalin, compared with normal individuals (n = 42), was observed for eight of nine families with Dent's disease (n = 10) and for the two families with Lowe's syndrome (n = 3). The family with autosomal dominant idiopathic Fanconi syndrome (n = 2) exhibited megalin levels within the normal range. The measured levels of cubilin were normal for all patients. These results are consistent with defective recycling of megalin to the apical cell surface of the proximal tubules and thus decreased loss into urine in Dent's disease and Lowe's syndrome. This defect would interfere with the normal endocytic function of megalin, result in losses of potential ligands into the urine, and produce tubular proteinuria.     

Anesthesia for proteus syndrome

Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable affecting tissues in a mosaic pattern. A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies. In addition to the pathological findings of this syndrome, potential complications such as difficult intubation, pulmonary hypertension, and pulmonary thromboembolism necessitate a careful preoperative and anesthetic preparation. MRI was performed under general anesthesia. There were no anesthetic complications. There are few previous reports on anesthesia in a patient with Proteus syndrome.     

Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome

The case of a 3-day-old infant with Beckwith-Wiedemann syndrome who required anesthetic care during closure of an abdominal wall defect is presented. Beckwith-Wiedemann syndrome comprises a constellation of clinical features, including macroglossia, macrosomia, omphalocele, visceromegaly, mild microcephaly, facial nevus flammeus, horizontal earlobe creases, and renal medullary dysplasia. Due to the high rate of omphalocele in this syndrome, anesthetic care is frequently required during the neonatal period. Many of these infants (greater than 50%) are born prematurely. Therefore, their anesthetic care may be further complicated by associated diseases of prematurity, such as hyaline membrane disease. Additional anesthetic implications of this syndrome relate to the occurrence and management of hypoglycemia and polycythemia. Careful intraoperative management of glucose homeostasis is particularly important, since eventual neurologic outcome and intelligence will be normal provided prolonged neonatal hypoglycemia is avoided. Preoperative evaluation of the cardiac and genitourinary system, including echocardiography and renal ultrasound, are recommended because of the frequent occurrence of associated anomalies with omphalocele.     

Anesthetic management of maternal Mirror syndrome

Mirror syndrome (Ballantyne syndrome, triple edema, maternal hydrops, pseudotoxemia) is a rarely diagnosed condition associated with pregnancy that can be life-threatening for both the mother and fetus. There is limited literature on its pathogenesis and anesthetic management, making prevention and treatment complex. The duration of pregnancy and severity of maternal or fetal presentation often determines outcome. We describe the anesthetic considerations of a morbidly obese parturient with Mirror syndrome.     

The anesthetic management for adrenalectomy of a patient with Cushing's syndrome in pregnancy]

The anesthetic management for left adrenalectomy of a pregnant patient with Cushing's syndrome caused by adrenal adenoma during pregnancy was reported. At 21 week gestation, anesthesia was induced with modified NLA and maintained with nitrous oxide-enflurane-oxygen combined with continuous lumbar epidural anesthesia. Postoperatively, she was delivered a normal, 1990 g infant at 37 week gestation. The present case is believed to be the first reported case of general anesthesia in detail for adrenalectomy in a patient with Cushing's syndrome during pregnancy. The anesthetic management including choice of anesthetics, anesthetic method, intraoperative monitoring, influence of catecholamine, and fetal as well as maternal complication was reviewed from literatures.     

Anesthetic management of infants with palliated hypoplastic left heart syndrome undergoing laparoscopic nissen fundoplication

The safety of laparoscopic surgery in infants with single ventricle physiology has been a subject of controversy despite potential benefits over open surgery. We present the anesthetic management of five infants with palliated hypoplastic left heart syndrome that underwent laparoscopic Nissen fundoplication. After anesthetic induction and tracheal intubation, an intraarterial catheter was placed for hemodynamic monitoring. Insufflation pressure was limited to 12 mm Hg and was well tolerated by all patients. There were no intraoperative or postoperative complications. In patients with hypoplastic left heart syndrome, laparoscopic Nissen fundoplication can be safely performed with careful patient selection and close intraoperative monitoring.     

Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome

We describe a patient with Bernard-Soulier syndrome who underwent emergency laparotomy for intraabdominal bleeding. Presentation of this recent case highlights some of the anesthetic and perioperative implications of the disease. Briefly, perioperative and anesthetic management of patients with Bernard-Soulier syndrome should include platelet transfusions and choice of appropriate anesthetic drugs and techniques. The potential benefit of desmopressin and corticosteroids should be considered. Thrombelastography, if available, is also useful.     

Brief review: Anesthetic implications of long QT syndrome in pregnancy

PURPOSE: To review the effects of the long QT syndrome (LQTS) in the parturient and the current anesthetic management of patients with LQTS. SOURCE: Relevant articles were obtained from a MEDLINE search spanning the years 1980-2006 and a PubMed search spanning the years 1949-2006. Bibliographies of retrieved articles were searched for additional articles. PRINCIPAL FINDINGS: The prevalence of LQTS in the developed world is one per 1,100 to 3,000 of the population. Clinically, LQTS is characterized by syncope, cardiac arrest and occasionally, by a history of seizures. The QT interval can also be prolonged by drugs, electrolyte imbalances, toxins and certain medical conditions. Long QT syndrome patients are at risk of torsades de pointes and ventricular fibrillation. Medical management aims to reduce dysrhythmia frequency. The LQTS is subdivided into different groups (LQT1-6) depending on the cardiac ion channel abnormality. Torsades can be precipitated by adrenergic stimuli such as stress or pain (LQT1 and 2), sudden noises (LQT2) or whilst sleeping (LQT3). Patients with LQTS require careful anesthetic management as they are at high risk of torsades perioperatively despite minimal data on the effects of anesthetic agents on the QT interval. While information on effects of LQTS in pregnancy is limited, the incidence of dysrhythmia increases postpartum. Isolated case reports of patients with LQTS women highlight several peripartum dysrhythmias. CONCLUSION: An understanding of LQTS and the associated risk factors contributing to dysrhythmias is important for anesthesthesiologists caring for parturients with LQTS.     

Anesthetic management of a patient with Alport-leiomyomatosis syndrome

We report the anesthetic management of esophagectomy for a patient with Alport-leiomyomatosis syndrome. A 23-year-old woman complained of dysphagia and severe chest pain. Her chest X-ray, computed tomography (CT), and magnetic resonance imaging (MRI) showed an enlarged esophagus, in contact with the trachea, heart, aorta, and large vessels. She frequently experienced severe asthma attacks. Because various risks in both respiration and circulation, especially in anesthesia induction, were of concern, her right femoral vessels were exposed, for the emergency use of percutaneous cardiopulmonary support (PCPS), prior to anesthesia induction. Anesthesia was induced and maintained with propofol, fentanyl, and vecuronium. Esophagectomy was performed uneventfully and no severe events were seen in anesthesia management. Alportleiomyomatosis syndrome is a very rare disease. When we are involved in the anesthetic management of a patient with this disease, evaluation of the influence of the enlarged esophagus on both respiration and circulation, and careful preparation for emergence, are very important.     

Anesthetic considerations in a parturient with Oral-Facial-Digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction

Oral-Facial-Digital syndrome or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. In this case report, we describe the anesthetic management of a parturient with Oral-Facial-Digital syndrome type II and repaired tetralogy of Fallot with left ventricular dysfunction.     

Anesthetic management of autoimmune polyglandular syndrome (Schmidt's syndrome)--a case report-

BACKGROUND: Autoimmune polyglandular syndromes (APS) are complex diseases with diverse clinical presentations resulting from involvement of multiple endocrine glands. Surgery under anesthetic in these patients is challenging. A case of Schmidt syndrome (autoimmune polyglandular syndrome type 11) that developed adrenocortical insufficiency in the postoperative period is reported. Etiology, pathogenesis, types and anesthetic problems associated with these cases are discussed. CASE REPORT: A 41 yr old female patient, diagnosed to have APS (Schmidt syndrome) presented for uterine surgery. She had autoimmune glandular involvement of pituitary, thyroid, parathyroid, adrenals and melanocytes and was on hormone replacements for the deficiencies incurred, which were continued till the morning of surgery. Surgery was conducted under general anesthetic combined with epidural analgesia. In spite of supplementation of steroid in physiological doses prior to surgery, she developed hemodynamic instability in the early postoperative period, but could be successfully resuscitated with additional steroid dosage and fluids. CONCLUSION: This patient presented with multiglandular endocrine involvement necessitating timely, adequate hormone replacement and appropriate fluid management. These challenges require careful approach to anesthetic management.     

Anesthetic management of a child with chromosome 22q11 deletion syndrome

Chromosome 22q11 deletion syndrome (22q11DS) is a congenital anomaly characterized by cardiovascular, oropharyngeal, immunologic, endocrine, and neurodevelopmental abnormalities. We successfully managed a 6-year-old girl with 22q11DS with general anesthesia. Potential problems in anesthetic management of patients with 22q11DS are reviewed.     

Acute tubular necrosis associated with Lowe's syndrome: possible role of rhabdomyolysis.

The oculo-cerebral-renal syndrome of Lowe is an X-linked recessive disorder characterized by severe mental retardation, congenital cataracts, renal tubular dysfunction, growth retardation, hypotonia, glaucoma, and rickets. Recently, it has been found that serum concentrations of the muscle enzymes are elevated, providing evidence that there is primary muscle involvement in this disorder. The renal functional abnormalities that occur have also been further delineated. Renal tubular dysfunction presents within the first year of life, followed by a serum creatinine level that increases with age. Renal failure generally occurs in the fourth decade of life. We report two patients with Lowe's syndrome who presented with new onset of acute renal failure (ARF). Workup of their ARF established the diagnosis of acute tubular necrosis with evidence of rhabdomyolysis in one case. These patients were treated aggressively with dialysis and had subsequent recovery of renal function to their baseline state. We suggest that patients with Lowe's syndrome who present with an acute change in their renal function should be treated early with vigorous hydration therapy. If dialysis is indicated, it should be initiated. Furthermore, these patients should be promptly evaluated for evidence of rhabdomyolysis with alkalinization of the urine if possible.     

Train of four fade in a child with stiff baby syndrome

A case is described of a child with stiff baby syndrome who underwent open reduction and femoral shortening of congenital dislocated hip under general anaesthesia. Neuromuscular function was measured electromyographically and demonstrated a great degree of train of four fade (57%) after sevoflurane inhalational induction of anaesthesia. The response to suxamethonium (2 mg x kg(-1)) was normal. The neuromuscular response to volatile anaesthetic agents and suxamethonium may be abnormal in these children with stiff baby syndrome and intraoperative neuromuscular monitoring is recommended.     

Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome

We describe the anesthetic and perioperative management of a child with Langer-Giedion syndrome (trichorhinophalangeal syndrome type II). This is a very rare genetic syndrome caused by 8q chromosome deletion. The clinical features of this syndrome include craniofacial and urogenital abnormities, variable postnatal growth deficiency with mental retardation, multiple exostoses, hyperflexible joints, and recurrent respiratory tract infections. Potential perioperative problems are highlighted.     

Anesthetic management of patients with Melkersson Rosenthal syndrome

Melkersson Rosenthal Syndrome (MRS) is a rare disorder characterized by relapsing facial paralysis, persistent or recurrent orofacial edema, and lingua plicata. It may cause difficult airway, drug allergy, and angioedema. In our anesthetic management of two patients with MRS, preanesthetic immunological blood examination and skin tests for hypersensitivity to anesthetic drugs were applied. Because the principal goal is to avoid all factors that may stimulate, an allergic reaction, anesthetic drugs known to trigger urticaria were avoided. Body and operating room temperatures, changes of which may trigger allergic reactions, were kept constant during the perioperative period. Emergency precautions were taken for probable angioedema. MRS is a rare syndrome, and if its manifestations are misunderstood as simple facial paralysis, it may be overlooked by anesthesiologists. Anesthesiologists must be careful of several problems in patients with MRS.     

Anaesthetic management of children with Joubert syndrome

We report the anaesthetic management of two children with Joubert syndrome. Children with this syndrome have abnormalities of respiratory control due to changes in the brainstem and cerebellum. They are extremely sensitive to the respiratory depressant effects of anaesthetic agents, including nitrous oxide. Anaesthesia using inhalational induction, controlled ventilation, avoidance of opioids, and close postoperative monitoring is recommended.