Anesthetic management of a patient with Conradi's syndrome (chondrodysplasia punctata)--a case report

Conradi's syndrome is a rare hereditary disease characterized by punctate epiphyseal calcifications. The symptoms include short stature, typical facies with hypertelorism, saddle nose, short neck, tracheal stenosis and scoliosis. The deformities of airway and thoracic cage are expected to bring about ventilatory failure during anesthesia and operation. Although there has been a brief report of a death of a child with this syndrome during induction of anesthesia, we cannot find any other report concerning the perioperative respiratory management. This is a report on a girl with Conradi's disease who developed respiratory problems due possibly to gastric aspiration during ophthalmic surgery under general anesthesia. Several anesthetic problems raised by this case are discussed.     

A case of polyglandular autoimmune syndrome type I with unusual presentation

Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular Autoimmune Syndrome (PGA) type I. She also developed idiopathic generalized epileptiform seizures and Alcaligenes faecalis septicemia not previously reported with PGA type I. The patient responded well to alphacalcidol, hydrocortisone, valproate sodium, topical antifungal and systemic antibiotics.     

Autoimmune interstitial nephritis and hepatitis in polyglandular autoimmune syndrome

A 6-year-old female with polyglandular autoimmune syndrome type I, chronic active hepatitis, and renal failure is described. The renal biopsy demonstrated advanced tubulointerstitial disease with antibodies directed against tubular basement membranes. The patient’s serum contained circulating antibodies directed against both renal and hepatic parenchyma. Renal disease culminating in renal failure and anti-tubular basement membrane disease have not been previously reported in association with polyglandular autoimmune disease. We describe for the first time a patient with polyglandular autoimmune syndrome, chronic active hepatitis, circulating antibodies directed against both renal and hepatic parenchyma, and primary tubulointerstitial disease culminating in renal failure. Received June 9, 1994; received in revised form and accepted November 2, 1995     

Type 1 diabetes and polyglandular autoimmune syndrome: A review

Type 1 diabetes(T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1 D as a monoglandular disease and the relation to polyglandular autoimmune syndrome(PAS) have also been wellexplored. The incidence of T1 D has steadily increased in most parts of the world, especially in industrialized nations. T1 D is frequently associated with autoimmune endocrine and non-endocrine diseases and patients with T1 D are at a higher risk for developing several glandular autoimmune diseases. Familial clustering is observed, which suggests that there is a genetic predisposition. Various hypotheses pertaining to viral- and bacterialinduced pancreatic autoimmunity have been proposed, however a definitive delineation of the autoimmune pathomechanism is still lacking. In patients with PAS, pancreatic and endocrine autoantigens either colocalize on one antigen-presenting cell or are expressed on two/various target cells sharing a common amino acid, which facilitates binding to and activation of T cells. The most prevalent PAS phenotype is the adult type 3 variant or PAS type Ⅲ, which encompasses T1 D and autoimmune thyroid disease. This review discusses the findings of recent studies showing noticeable differences in the genetic background and clinical phenotype of T1 D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome.     

Klippel -Feil综合征与麻醉

背景 Klippel-Feil综合征(klippel-Feil syndrome,KFS)临床极为少见,是一种以颈椎融合为主要特征的先天性畸形,多数患者合并有其他器官系统的异常,属于困难气道的高风险人群.目的 针对KFS的临床特点,讨论此类患者麻醉管理的特殊性.内容 综述KFS的临床表现与诊断,以及麻醉管理特点,重点讨论该类患者的气道处理.趋向 充分的麻醉前颈部畸形和气道的评估,有助于合理制定麻醉及气道处理方案,避免神经损伤,提高麻醉安全性.     

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 a patient with Freeman-Sheldon syndrome: case report

The Freeman-Sheldon syndrome (FSS) is a rare congenital myopathy and dysplasia. The musculoskeletal and soft-tissue manifestations of FSS often require orthopedic and plastic reconstructive surgery. We report a case of a 7-year-old girl with FSS operated for lower limb malformation during spinal anesthesia.     

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.     

Apert syndrome. Anesthetic management

Apert patients frequently provide a challenge in airway management. For simple procedures, a safe anesthetic plan can be formulated if the anatomic factors affecting the airway are carefully considered. More extensive and prolonged craniofacial reconstructive surgeries require more monitoring and include all the problems associated with difficult intubation, hazardous airway management, massive blood loss and fluid shift, and long anesthetic times. After assessment of all these specific needs, the anesthesiologist will be presented with a difficult but not insurmountable risk.     

Anesthetic management of the King-Denborough syndrome

The King-Denborough syndrome (KDS) is a congenital myopathy with musculoskeletal abnormalities, and definitely associated with susceptibility to malignant hyperthermia (MH). We present the first report in Japan concerning the management of a KDS patient. A 2-year-old boy was scheduled for cryptorchidopexy. He had some physical signs of KDS, e.g. pectus excavatum, low-set ears, malar hypoplasia, micrognathia, ptosis and down-slanting palpebral fissures. Moreover, his mother and maternal grand-uncle had medical history of MH. Therefore, he was diagnosed as KDS by pediatricians. All of the preoperative examinations, including serum creatine phosphokinase level, are normal. Previous 15 case-reports suggest that in KDS patients MH might be triggered by volatile anesthetics. To avoid the trigger, we maintained the general anesthesia with propofol, fentanyl and vecuronium. During perioperative period, his body temperature was 36.3-38.1 degrees C, and no symptom of MH was observed. It is rare that a diagnosis of KDS is made preoperatively since the MH-induction is involved in the criteria of this syndrome. In the anesthesia of patients who are suspected of KDS from their characteristic features or familial histories, an anesthesiologist should pay attention to prevent MH. The total intravenous anesthesia method appears useful for the management of KDS.     

Anesthetic management of a patient with SAPHO syndrome: a case report

We report a case of SAPHO syndrome accompanying progressive osteoarthritis. In this 43-year-old woman, difficult intubation was expected due to unilateral hyperostosis of the mandible and spinal degeneration. As far as we know, anesthetic management of this disease has not been reported. Therefore we made an anesthetic plan based on spinal degenerative disease which was considered to have similar problems of intubation and the case was managed without problems. As this syndrome is a progressive disorder, careful perioperative management is required each time.     

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.     

Anesthetic management in fibrodysplasia ossificans progressiva (FOP): a case report

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder of connective tissue, which has significant implications on anesthetic management of affected patients, e.g., application of difficult airway algorithm, avoiding any trauma during venous cannulation. FOP has received very limited reviews in the published anesthesia literature. We describe perioperative care of a 21-year-old female with established diagnosis of FOP presenting for hysteroscopy followed by dilatation and curettage. Multiorgan abnormalities of FOP are reviewed and available anesthetic options are analyzed and compared.