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Fundoplication and pyloroplasty — A surgical treatment for intractable “cyclic vomiting” in familial dysautonomia
Fundoplication and Pyloroplasty--A Surgical Treatment for Intractable "Cyclic Vomiting" in Familial Dysautonomia By I. Vinograd, O.Z. Lernau, M. Frand, and S. N i s s a n Jerusalem a n d TeI-A viv, Israel
9 A 12-yr-old boy with familial dysautonomia was successfully treated for intractable, life-threatening vomiting and aspiration pneumonia by fundoplication and pyloroplasty. INDEX WORDS: Familial dysautonomia; fundoplication; pyloroplasty.
~AMILIAL dysautonomia was originally
F described by Riley et al. in 1949] This syndrome is characterized by its multiorgan
involvement, predominantly a dysfunction of the autonomic and sensory central nervous systems. The nature of the basic defect of the disease is as yet unknown. One prominent feature of familial dysautonomia is repeated cyclic vomiting which may lead to dehydration, hematemesis, aspiration pneumonia and respiratory failure, which are the most common causes of death in this disease. 3,4 CASE REPORT
Z.G. was born to healthy East European Jewish parents and was diagnosed at the age of 10 as sutfering from familial dysautonomia, He had been vomiting and choking since the age of 6 and showed many stigmata of the disease including repeated cyclic vomiting, failure to thrive, absence of tears, corneal anesthesia with ulceration and scarring, coldness of extremities, complete absence of the fungiform papillae of the tongue, relative insensitivity to pain and an abnormal skin response to histamine. Over the next few years the clinical picture was dominated by bouts of intractable vomiting, accompanied by hematemesis and leading to repeated life-threatening aspiration bronchopneumonia. There was also a bizarre self-destructive pattern of behavior. The patient showed increasing tolerance and dependency on tranquilizing and antiemetic drugs (chlorpromazine and later bentanechol) with little effect on the course of the disease. Pulmonary functions deteriorated with progressive hypoxemia due to the development of a secondary diffuse interstitial fibrosis of the lungs. Radiographic examination of the esophagus and stomach showed
From the Department of General and Pediatric Surgery, Hadassah University Hospital, Jerusalem, Israel; and the Department of Pediatry, Shiba Medical Center, Tel-Aviv, Israel. Address repring requests to I. Vinograd, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel. 9 1982 by Grune & Stratton, Inc. 0022-3468/82/1701~9021501.00/0 80
free reflux into the esophagus without evidence of hiatus hernia and slow emptying of the stomach. Esophageal manometry failed to demonstrate a high pressure zone at the site of the low esophageal sphincter. The patient was operated upon at the age of 10 yr, after having spent most of his life in pediatric and pulmonary intensive care units. In order to prevent reflux of gastric contents and vomiting and also to facilitate passage through the pylorus, a Nissen fundoplication and a HeinickeMikulicz pyloroplasty were performed. There were no operative or postoperative complications. Ten months following the operation, the patient continues to have symptoms related to the underlying disease. However, reflux and vomiting have completely disappeared, and there has been a slow improvement in the patient's pulmonary functions.
DISCUSSION
The motility of the upper gastrointestinal tract is characterized in patients with familial dysautonomia by uncoordinated esophageal contractions) Severe vomiting due to malfunction of the low esophageal sphincter and pylorospasm is an important component of this disease. 6 The severity and frequency of vomiting vary considerably from one patient to another. Typically an attack lasts 24-72 hr, but may continue from 5 to 10 days with wretching and vomiting occurring every 15--20 min. j Consequently, there is a constant threat of aspiration pneumonia leading to acute and chronic respiratory insufficiency. Control of vomiting has, therefore, become most important in the treatment of this disease. Chlorpromazine (thorazine) has been effective in suppressing attacks of vomiting, but therapeutic doses approach toxic levels and extrapyramidal complications have been frequent. Recently, benthanechol (urecholine) has been used to prevent vomiting] Some patients, such as the one presented, are refractory to antiemetic drugs. General anesthesia is associated with considerable risk to the patient suffering from familial dysautonomia, due to the instability of the blood pressure regulating mechanism. Nevertheless, some attempts have been made in the past to prevent vomiting by vagotomy and pyloroplasty8 or esophagomyotomy. 5 Journal of Pediatric Surgery, Vol. 17, No. 1 (February), 1982
FUNDOPLICATION AND PYLOROPLASTY
81
The child presented underwent fundoplication in order to prevent reflux from the stomach and pyloroplasty to facilitate gastric evacuation, which is delayed in familial dysautonomia. This operation has, of course, no effect on the
basic nature of the disease. It can, however, prevent one of its major complications, viz., severe vomiting and aspiration pneumonia in patients who fail to respond to conservative antiemetic treatment.
REFERENCES
1. Riley CM, Day RL, Greeley DM, Langford WS: Central autonomic dysfunction with defective lacrimation. 1. Report of 5 Cases. Pediatrics 3:468, 1949 2. Axelrod FB, Nachtigal R, Dancis J: Familial dysautonomia: Diagnosis, patbogenesis and management. Adv Pediatr 21:75-96, 1974 3. Brunt PW, Mckusick VA: Familial dysautonomia: A report of genetic and clinical studies with a review of the literature. Medicine 49:343-374, 1970
4. Linde LM, Westover JL: Esophageal and gastric abnormalities in dysautonomia. Pediatrics 29:303, 1962 5. Burke V: Familial dysautonomia. Aust Pediatr J 2:58, 1966 6. Kramer P, Ingelfinger F J: Esophageal sensitivity to machlyl in cardiospasm. Gastroenterology 19:242, 1951 7. Axelrod FB, Branom N, Becker M, et al: Treatment of familial dysautonomia with bethanechol (urecholine). J Pediatr 81:573, ]971 8. Schuster SR: personal communication
9 A 12-yr-old boy with familial dysautonomia was successfully treated for intractable, life-threatening vomiting and aspiration pneumonia by fundoplication and pyloroplasty. INDEX WORDS: Familial dysautonomia; fundoplication; pyloroplasty.
~AMILIAL dysautonomia was originally
F described by Riley et al. in 1949] This syndrome is characterized by its multiorgan
involvement, predominantly a dysfunction of the autonomic and sensory central nervous systems. The nature of the basic defect of the disease is as yet unknown. One prominent feature of familial dysautonomia is repeated cyclic vomiting which may lead to dehydration, hematemesis, aspiration pneumonia and respiratory failure, which are the most common causes of death in this disease. 3,4 CASE REPORT
Z.G. was born to healthy East European Jewish parents and was diagnosed at the age of 10 as sutfering from familial dysautonomia, He had been vomiting and choking since the age of 6 and showed many stigmata of the disease including repeated cyclic vomiting, failure to thrive, absence of tears, corneal anesthesia with ulceration and scarring, coldness of extremities, complete absence of the fungiform papillae of the tongue, relative insensitivity to pain and an abnormal skin response to histamine. Over the next few years the clinical picture was dominated by bouts of intractable vomiting, accompanied by hematemesis and leading to repeated life-threatening aspiration bronchopneumonia. There was also a bizarre self-destructive pattern of behavior. The patient showed increasing tolerance and dependency on tranquilizing and antiemetic drugs (chlorpromazine and later bentanechol) with little effect on the course of the disease. Pulmonary functions deteriorated with progressive hypoxemia due to the development of a secondary diffuse interstitial fibrosis of the lungs. Radiographic examination of the esophagus and stomach showed
From the Department of General and Pediatric Surgery, Hadassah University Hospital, Jerusalem, Israel; and the Department of Pediatry, Shiba Medical Center, Tel-Aviv, Israel. Address repring requests to I. Vinograd, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel. 9 1982 by Grune & Stratton, Inc. 0022-3468/82/1701~9021501.00/0 80
free reflux into the esophagus without evidence of hiatus hernia and slow emptying of the stomach. Esophageal manometry failed to demonstrate a high pressure zone at the site of the low esophageal sphincter. The patient was operated upon at the age of 10 yr, after having spent most of his life in pediatric and pulmonary intensive care units. In order to prevent reflux of gastric contents and vomiting and also to facilitate passage through the pylorus, a Nissen fundoplication and a HeinickeMikulicz pyloroplasty were performed. There were no operative or postoperative complications. Ten months following the operation, the patient continues to have symptoms related to the underlying disease. However, reflux and vomiting have completely disappeared, and there has been a slow improvement in the patient's pulmonary functions.
DISCUSSION
The motility of the upper gastrointestinal tract is characterized in patients with familial dysautonomia by uncoordinated esophageal contractions) Severe vomiting due to malfunction of the low esophageal sphincter and pylorospasm is an important component of this disease. 6 The severity and frequency of vomiting vary considerably from one patient to another. Typically an attack lasts 24-72 hr, but may continue from 5 to 10 days with wretching and vomiting occurring every 15--20 min. j Consequently, there is a constant threat of aspiration pneumonia leading to acute and chronic respiratory insufficiency. Control of vomiting has, therefore, become most important in the treatment of this disease. Chlorpromazine (thorazine) has been effective in suppressing attacks of vomiting, but therapeutic doses approach toxic levels and extrapyramidal complications have been frequent. Recently, benthanechol (urecholine) has been used to prevent vomiting] Some patients, such as the one presented, are refractory to antiemetic drugs. General anesthesia is associated with considerable risk to the patient suffering from familial dysautonomia, due to the instability of the blood pressure regulating mechanism. Nevertheless, some attempts have been made in the past to prevent vomiting by vagotomy and pyloroplasty8 or esophagomyotomy. 5 Journal of Pediatric Surgery, Vol. 17, No. 1 (February), 1982
FUNDOPLICATION AND PYLOROPLASTY
81
The child presented underwent fundoplication in order to prevent reflux from the stomach and pyloroplasty to facilitate gastric evacuation, which is delayed in familial dysautonomia. This operation has, of course, no effect on the
basic nature of the disease. It can, however, prevent one of its major complications, viz., severe vomiting and aspiration pneumonia in patients who fail to respond to conservative antiemetic treatment.
REFERENCES
1. Riley CM, Day RL, Greeley DM, Langford WS: Central autonomic dysfunction with defective lacrimation. 1. Report of 5 Cases. Pediatrics 3:468, 1949 2. Axelrod FB, Nachtigal R, Dancis J: Familial dysautonomia: Diagnosis, patbogenesis and management. Adv Pediatr 21:75-96, 1974 3. Brunt PW, Mckusick VA: Familial dysautonomia: A report of genetic and clinical studies with a review of the literature. Medicine 49:343-374, 1970
4. Linde LM, Westover JL: Esophageal and gastric abnormalities in dysautonomia. Pediatrics 29:303, 1962 5. Burke V: Familial dysautonomia. Aust Pediatr J 2:58, 1966 6. Kramer P, Ingelfinger F J: Esophageal sensitivity to machlyl in cardiospasm. Gastroenterology 19:242, 1951 7. Axelrod FB, Branom N, Becker M, et al: Treatment of familial dysautonomia with bethanechol (urecholine). J Pediatr 81:573, ]971 8. Schuster SR: personal communication