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Abstract
Familial dysautonomia (FD) is a genetic disease of the autonomous and sensory nervous systems. Severe gastro-oesophageal reflux is common and one of the major complications. Some patients with FD develop megaoesophagus. Oesophageal malfunction, accompanied by oesophageal food and secretion retention, results in recurrent aspiration and other severe respiratory complications. Through a traditional case report, we wish to show how reverse tubing of the oesophagus can lead to significant symptomatic improvement in these patients. Moreover, this technique can serve as an alternative treatment for other oesophageal motility disorders.
- ACHALASIA
- Familial Dysautonomia
- OESOPHAGEAL DISEASE
Data availability statement
All data relevant to the study are included in the article or uploaded as supplementary information.
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Introduction
Familial dysautonomia (FD), also known as Day-Riley syndrome, is a genetic disease of the autonomous and sensory nervous systems. It is caused by a mutation in the IKBKAP gene, therefore affecting the migration, survival and myelination of neuronal cells during their development.1 Mutated proteins result in the underdevelopment of peripheral neuronal fibres as well as a decreased number of neurons in the autonomic and sensory ganglia. FD is characterised by autosomal recessive inheritance, affecting almost exclusively individuals of Eastern European Jewish descent.2 The carrier frequency of the most common mutation in the Ashkenazi Jewish population has been reported to be between 1 in 27 and 1 in 32.2 While patients with FD usually have relatively normal development, poor quality of life is common due to various symptoms affecting the respiratory, gastrointestinal, cardiovascular, neurological and other systems.2 The clinical diagnosis of FD is based upon the presence of five relatively invariable ‘cardinal’ criteria, that is, the absence of overflow emotional tears, absent lingual fungiform papillae, depressed patellar reflexes, lack of an axon flare following intradermal histamine and documentation of Ashkenazi Jewish heritage.2 Among other gastrointestinal symptoms, severe gastro-oesophageal reflux (GOR) is common and most patients undergo antireflux surgery, that is, Nissen fundoplication.3 As they reach adulthood, some patients with FD develop megaoesophagus.4 Oesophageal malfunction, accompanied by oesophageal food and secretion retention, results in recurrent aspiration and other severe respiratory complications. Through a traditional case report, we wish to show how reverse tubing of the oesophagus can lead to significant symptomatic improvement in these patients.
Case report
A 20-year-old man was diagnosed with FD at birth and continues to be followed up at the paediatric gastroenterology clinic. Over the course of 2 years, he developed worsening symptoms of chronic cough, dyspnoea and desaturation secondary to recurrent aspirations of the oesophageal contents. At the age of 9 months, he was diagnosed with FD disease by typical signs and symptoms, including poor sucking, choking bouts, GOR, recurrent aspiration pneumonia, postural hypotension and extreme blood pressure fluctuations, hypotonia, motor developmental delay and delayed growth, kyphoscoliosis, hyperhydrosis, the absence of fully formed papillae in the tongue, a lack of overflow tears and decreased patellar reflexes. Additionally, his pathological histamine test manifested the absence of an axon flair following intradermal histamine. His clinical diagnosis aligned with a classic FD presentation.2 A genetic diagnosis was not done due to personal family preferences. Family history was negative for FD cases. As an infant, the patient underwent a gastrostomy to supplement oral feeding as well as a Nissen fundoplication for refractory GOR. Later on, he developed a dilated oesophagus, which resulted in severe food and secretion retention, leading to a significant rise in oesophageal pressure. As a result, cardiac compression was identified on cross-sectional imaging (figure 1). The patient developed exertional dyspnoea, recurrent pneumonia and sleep apnoeas. Multiple attempts to wean off prophylactic antibiotics for aspiration pneumonia have failed. Oral feeding was gradually replaced by a gastrostomy. Additionally, the patient was obliged to manually remove oesophageal secretions, reaching down to the upper oesophageal sphincter with one or two slender fingers and opening it up. This technique was required multiple times a day, long after he became nil by mouth.
(A) Axial, (B) coronal and (c) sagittal reformats of contrast-enhanced CT showing marked dilation of the entire oesophagus, compressing the confluence of the pulmonary veins into the left atrium (LA).
As a rescue treatment, we replaced the existing gastrostomy tube with a gastrojejunostomy (GJ) tube. However, rather than placing the jejunostomy tube in the small bowel, it was placed retrogradely directly into the oesophagus through the lower oesophageal sphincter. The technique was as follows (figure 2): first, we removed the gastrostomy tube. We then intubated the stomach using a 5.9-mm diameter (‘slim’) endoscope via the gastrostomy site. We directed the scope through the stomach, towards and through the lower oesophageal sphincter (LOS) and up the oesophagus. We then placed a guidewire through the scope, into the oesophagus, and removed the scope, leaving the guidewire. We then inserted the GJ tube over the guidewire, via the stomach and LOS, into the oesophagus, and removed the guidewire, leaving the tube in place. The procedure was aided by fluoroscopy, demonstrating correct placement of the GJ tube and confirming the effect of near-total clearance of oesophageal contrast media on imaging (figure 3). Of note, before placing the tube, additional pores were cut along the jejunal part of the GJ tube in order to increase the clearance of the oesophageal contents. This was done after measuring the distance between the gastrostomy at the skin level and the LOS, thereby determining the correct place to cut these holes so that they would be in the oesophageal part and not in the gastric part. The measurement was achieved by documenting the endoscope markings at the skin level, exactly at the point of its tip reaching the LOS, as confirmed by fluoroscopy. The patient tolerated the procedure well and there were no immediate or postprocedural complications reported. The patient then began drainage of oesophageal secretions through the jejunal port several times a day, and a gastrostomy bag was connected to the J port during the night (passive drainage). Soon after the procedure, the patient experienced significant symptomatic relief. He was no longer in need of routine antibiotics and could stop evacuating oesophageal contents. His desaturation had resolved, as had other respiratory symptoms. He continues to be fed by the GJ tube via the gastric port, sipping liquids occasionally (which end up being drained through the port). Since the initial placement of the oesophageal tube, the patient has been under follow-up for 10 months and has successfully undergone several routine oesophageal GJ-tube replacements every 3 months, using a fluoroscopy-aided retrograde placement of guide wire technique, where no adverse effects have been noted.
Illustration of the procedure. (1) The endoscope is inserted through the gastrostomy site. (2) The endoscope is advanced towards the LOS under direct vision and fluoroscopy. When the tip reaches the LOS, the distance from the skin to the LOS is documented by the scope markings. (3a) Based on measurements, additional holes are cut along the J part of a GJ tube. (3b) Measures along the GJ tube. (3c) A GJ tube after the holes are cut. (4) A guidewire is inserted through the endoscope, through the stomach and into the oesophagus. (5) The endoscope is withdrawn. (6) Illustration of the guidewire after the endoscope is withdrawn. (7) A GJ tube is inserted over the guidewire under fluoroscopy. (8) The GJ tube is placed appropriately at the oesophagus, as confirmed by fluoroscopy. (9) The guidewire is removed. (10) GJ tube placement after the guidewire is removed. GJ, gastrojejunostomy; LOS, lower oesophageal sphincter. This illustration was created by Ilana Devorah Cunnungham with Biorender.com
Demonstration of successful clearance of the oesophagus using contrast media injection and drainage through the oesophageal-placed gastrojejunostomy tube. (A) Injection and (B) drainage.
Discussion
Severe GOR, associated with significant respiratory complications, is one of the major manifestations that can occur in individuals affected by FD.3 Many patients receive a fundoplication and gastrostomy at a very young age.3 However, as the disease progresses, some patients with FD develop a condition called megaoesophagus,4 in which the oesophagus dilates and loses its motility. Dilatation causes food and secretion retention, which leads to respiratory complications and eventually aspirations.
It is assumed that megaoesophagus could be a long-term complication of the fundoplication procedure. However, it is uncommon with other populations undergoing fundoplication for refractory GOR and therefore unlikely. Moreover, Hiller et al reported that oesophageal dilation was documented in 12 out of 34 screened patients with FD, four of whom had not undergone a prior fundoplication.4 Alternatively, pseudoachalasia is the cause of megaoesophagus in patients with FD, or another oesophageal dysmotility. Unfortunately, oesophageal manometry is usually avoided in FD due to hypersensitivity and reactivity that can readily develop into an autonomic crisis and is therefore not used. Regardless of whether the megaoesophagus is primary or secondary to fundoplication, reversing a fundoplication may not relieve symptoms and is often avoided by patients and caregivers of patients with FD due to fear of severe recurrent GOR. Thus, introducing reverse oesophageal tubing to these patients can greatly improve their quality of life. Moreover, this technique can be an alternative treatment for other oesophageal motility disorders. Using a pre-existing gastrostomy or even initiating a gastrostomy in order to enable this treatment can provide hope in cases where there are no other solutions.
Data availability statement
All data relevant to the study are included in the article or uploaded as supplementary information.
Ethics statements
Patient consent for publication
Ethics approval
This study involves human participants but it is not applicable. Participants gave informed consent to participate in the study before taking part.
Acknowledgments
Thanks to Ronit Schwell for her assistance with the editing of this paper.
Footnotes
Contributors Conceptualisation was done by JAD, CM and MS. Data curation, formal analysis and writing were done by CSW and MS. Project administration was done by BK and MS, and MS was responsible for the methodology as well.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.