Contemporary perioperative management of adult familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia (Riley-Day syndrome) is a rare multisystem disorder associated with an excess risk of perioperative morbidity and mortality. Because life expectancy is limited, few reports consider the perioperative management of familial dysautonomia in adults with advanced disease and end-organ dysfunction. Here, we report on the management of an adult patient with familial dysautonomia, highlighting recent developments in perioperative technology and pharmacology of special relevance to this challenging population.

Spondylodiscitis in familial dysautonomia: a case report.

Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal problems include: spinal deformities, foot deformities, fractures and arthopathies. In this article we review a case of a 34 years old male of non-Jewish origin affected by FD presenting L2-L3 kyphosis and inability to walk due to chronic L2-L3 spondylodiscitis not surgically treated 14 years before as acute disease. De novo spondylodiscitis affecting patients presenting FD and its subsequent management was not previously described in the literature.

Renal transplantation in familial dysautonomia: report of two cases and review of the literature.

BACKGROUND AND OBJECTIVES: Chronic kidney disease (CKD) is an increasingly recognized complication of familial dysautonomia (FD), a neurodevelopmental disorder with protean systemic manifestations that are the result of sensory and autonomic dysfunction. Progressive renal dysfunction occurs due to chronic volume depletion and cardiovascular lability with supine hypertension and orthostatic hypotension. By age 25, nearly one-half of all patients with FD will have reached stage 3 CKD. Furthermore, dialysis for ESRD in FD patients is associated with multiple complications and poor outcomes. DESIGN, SETTINGS, PARTICIPANTS, & MEASUREMENTS: We report two patients with FD who developed ESRD at ages 27 and 16, respectively, and underwent renal transplantation. Transplant was performed after 3 months on intermittent hemodialysis (HD) in the first case and after 1 month on twice-weekly continuous veno-venous hemodialysis (CVVHD) in the second case. RESULTS: Both patients tolerated surgery well and have maintained good graft function at 20 and 24 months posttransplantation, respectively. Symptomatic and functional improvements have included lower supine BP and increased sensitivity to antihypertensive agents. CONCLUSIONS: As general supportive care improves the lifespan of FD patients, issues related to the management of ESRD will become more important. Renal transplantation provides a viable alternative to dialysis for FD patients with ESRD.

Anesthesia management of familial dysautonomia.

Familial dysautonomia (FD) is an autosomal recessive inherited disorder, predominantly affecting the Ashkenazi Jewish population that is characterized by sensory and autonomic neuropathy. The protean manifestations and perturbations result in high morbidity and mortality. However, as a result of supportive measures and centralized care, survival has improved. As surgical options are increasing to symptomatically treat FD, anesthesiologists need to be familiar with this disorder. Because the Dysautonomia Center at NYU Medical Center is a referral center for FD patients, we have attained considerable anesthetic experience with FD. This article reviews clinical features of FD that could potentially affect anesthetic management and outlines our present practices.

Laparoscopic-modified Nissen fundoplication in children with familial dysautonomia.

Children with familial dysautonomia (FD) often require an antireflux operation and gastrostomy to prevent the detrimental effects of aspirated gastric juice on the lungs and to facilitate liquid feeding. The aim of this study was to examine whether a laparoscopic procedure in such patients is as safe and effective as the traditional open technique. The data for all pediatric patients who underwent a laparoscopic antireflux procedure for familial dysautonomia were reviewed and compared with those the last pediatric patients with FD who were operated upon using the open technique, before the introduction of the laparoscopic procedure. Of the 61 children who underwent an antireflux procedure for FD (1978-1996), 13 were operated on laparoscopically. The authors found that the postoperative course of these patients was less complicated than that of patients who had the traditional laparotomy procedure. There was no need for mechanical ventilation during the postoperative course, and there were no respiratory complications. The mean hospitalization period was significantly shorter (7.9 days v 13.2 days). There were no complications attributable to laparoscopy, and the antireflux procedure has been effective in all patients (short-term follow-up). The authors conclude that laparoscopic procedures that include a modified Nissen fundoplication, gastrostomy, and appendectomy are feasible and as safe as conventional surgery for the treatment of FD in children. It appears that this approach has fewer complications than laparotomy, might reduce the need for postoperative mechanical ventilation, and is associated with a shorter postoperative stay.

Multiple and various anaesthetics, ketamine included, in a young patient with familial dysautonomia, Case report.

A case report is presented of a 16-year-old patient who had undergone 16 general anaesthetics by different anaesthesists and under various anaesthetic techniques for dental, endoscopic, orthopaedic and ophthalmic surgical procedures over a period of 14 years. Use of ketamine, especially in an ambulatory setting, was found more suitable in terms of cardiovascular stability, safety and patient preference.

[Anesthesia and intensive therapy in autonomic dysfunction]. / Anästhesie und Intensivtherapie bei autonomer Dysfunktion.

Familial dysautonomia (Riley-Day syndrome) is a rare genetic disorder that is transmitted via an autosomal recessive gene. The disease, typically involving Jewish children, affects the central nervous system and can be characterised by pathological deficits in peripheral autonomic and sensory neurones. The signs, which begin in early childhood, include poor perception of pain and temperature, poor co-ordination of muscles, emotional crises with hypertension and profound sweating, postural hypotension, and excessive vagal reflexes. We present the case of a 1.5-year-old child who underwent general anaesthesia for gastrostomy and fundoplication because of chronic aspiration. The technique consisted of balanced anaesthesia with invasive monitoring: intra-arterial line, central venous catheter, pulse oximetry, capnography, and monitoring of urinary output, temperature, and metabolic changes. Pulmonary problems included a dramatic decrease in SaO2 during intubation, massive bronchial secretions, and a high fluid requirement. The haemodynamic parameters remained stable. In the postoperative period, pulmonary problems included severe pneumonia with variable pulmonary shunting and requiring an inspired oxygen fraction of between 0.5 and 1.0, accompanied by bronchoconstriction, atelectasis, and profuse bronchial secretions. Controlled ventilation had to be maintained for 4 days. The cardiovascular system was unstable with intermittent episodes of bradycardia, tachycardia, and hypo- or hypertension. The patient also showed signs of autonomic crises, which were treated with diazepam. Although patients with autonomic dysfunction are at high risk in the perioperative period, they can be managed safely when therapeutic efforts are optimised.

Nissen fundoplication in the treatment of children with familial dysautonomia.

Thirty-four children with familial dysautonomia (FD) underwent Nissen fundoplication and gastrostomy. The indications for operation were persistent cyclic vomiting that resulted in repeated aspiration pneumonia (94% of the patients), chronic dehydration (82%), failure to thrive (97%), and frequent hospitalizations (76%). There was no operative or early postoperative mortality. Long-term follow-up for up to 12 years was available. Eight patients died during this period from 7 months to 7.5 years postoperatively. In 5 patients (15% of the operated patients), the fundoplication ceased to function 16 months to 5 years postoperatively, which was attributed mainly to repeated severe dysautonomic crises with vigorous retching. Vomiting ceased in 85% of the symptomatic patients; pulmonary deterioration was halted, and the frequency of aspiration pneumonia was reduced in 68%; nutritional improvement was seen in 44%; the hydration status improved in 88%; and the frequency of hospital admissions decreased in 74%. These long-term findings resulted in a significant improvement in the quality of life for the majority of the patients. The absence of operative mortality and the low postoperative morbidity, together with the long-term beneficial results of this surgical procedure, should encourage early surgical intervention in selected FD patients.

Fundoplication and gastrostomy in familial dysautonomia.

Fundoplication with gastrostomy has become a frequent treatment for patients with familial dysautonomia, so we evaluated the use of both procedures in 65 patients. Although patients differed widely in presenting signs and age, from 5 weeks to 40 years, gastroesophageal reflux was documented in 95% of patients by cineradiography or pH monitoring. Panendoscopy was a useful adjunct. Preoperative symptoms of gastroesophageal reflux included vomiting, respiratory infections, and exaggerated autonomic dysfunction. Severe oropharyngeal incoordination frequently coexisted and resulted in misdirected swallows with aspiration, dependence on gavage feedings, or poor weight gain and dehydration. Follow-up after surgical correction ranged from 3 months to 11 years; 55 patients (85%) were available for a 1-year postoperative assessment. We had no instances of surgical death. The long-term mortality rate was 14%, primarily related to severe preexisting respiratory disease. Beyond the first postoperative year, 30 patients had pneumonia attributed to continued aspiration, exacerbation of preexisting lung disease, or recurrence of gastroesophageal reflux. Of 11 patients who vomited postoperatively, six had recurrence of reflux. Recurrence of gastroesophageal reflux was documented in eight patients (12%), and we revised the fundoplication in three patients. The number of patients with cyclic crises was reduced from 18 to 7; retching replaced overt vomiting in all but two of these seven patients, neither of whom had recurrence of reflux. Because oropharyngeal incoordination was prominent, concomitant use of gastrostomy and an antireflux procedure was especially effective in the treatment of younger patients with familial dysautonomia, before the development of severe respiratory disease. Despite the development of severe morning nausea in 15 patients, the combination procedure resulted in significantly improved nutritional status, decreased vomiting, and decreased respiratory problems. Appropriate use of gastrostomy feedings also contributed to success of the operation. The generally good outcome of fundoplication with gastrostomy confirms the benefit of this procedure in familial dysautonomia.

Spine deformity in familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia spanning a 30-year period reviewed retrospectively. The 16 patients identified included nine with spine deformities. Serious general medical problems were common. Spine deformities included kyphosis, scoliosis, or a combination of both. Brace treatment was attempted and was unsuccessful in three patients. Seven underwent surgical stabilization. Although all seven patients tolerated the surgical procedures, at least one postoperative complication was noted in each case. Follow-up ranged from 1 1/2 to 16 1/2 years. We recommend close observation of the deformities, early stabilization when disorders are progressive, and a high level of awareness of potential complications.

Gastroesophageal fundoplication and gastrostomy in familial dysautonomia.

Gastric and esophageal dysfunction are components of familial dysautonomia. The limited success of various medical management programs, has led to two types of surgical intervention. Experience with nine patients who had gastrostomy alone and 12 patients who had gastroesophageal fundoplication is reviewed. Both surgical procedures decreased frequency of vomiting and pneumonias and had positive effects on weight gain. Although "dysautonomic crises" are not eliminated, sufficient modification in character occurs so that associated risks are lessened. It is suggested that if medical management cannot control recurrent pneumonia, postprandial vomiting, esophageal bleeding, and/or inadequate weight gain, then the patient should be evaluated for fundoplication and/or gastrostomy.

Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease.

Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity. As with paralytic scoliosis following poliomyelitis, the curves are difficult to control with bracing, and progression does not cease with maturation. An increasing spinal curvature may lead to loss of ambulation or, for the wheelchair-bound patient, loss of sitting balance. The curvature may further compromise pulmonary function that may already be compromised by the neurological deficit. Twenty patients are reported with an average follow-up of six years (range, one to fourteen years). For the properly selected patient, surgical stabilization of the spine arrested the progress of the curve and improved function. Complications were few; however, pseudarthrosis was more common than in patients with non-neurological problems.