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Familial achalasia in children
CURRENT REVIEW
Familial Achalasia in Children P. J. Monnig, MD Departments of Surgery, St Joseph Mercy Hospital and Marian Health Center, Sioux City, Iowa
Familial achalasia is rare, especially in children. Five siblings with achalasia surgically treated at ages 5% months to 19 years are reported. There is no history of consanguinity or of vertical transmission. (Ann Thorac Surg 1990;49:1019-22)
T
his report is concerned with 5 sibling children (3 boys and 2 girls) with achalasia of the esophagus who were operated on between 1964 and 1987 at the ages of 5% months, 2, 3, 9, and 19 years. They are from an Iowa family with 9 children, in which the father is a farmer and the mother is a registered nurse. There is no history of consanguinity or vertical transmission.
Case Reports Patient 1 John, age 2 years, was cared for by Dr Homer Skinner of Carroll, Iowa. The child had swallowing difficulty, especially with solid food, since birth. He had pneumonia twice during his first year of life. Physical examination was unremarkable, but an esophagram disclosed wide dilatation with distal narrowing. Transabdominal esophagocardiomyotomy was performed in October 1964 by Dr Skinner with an excellent result. An esophagram 6% years later showed an apparently normal esophagus. He is now 27 years old and has no swallowing or respiratory symptoms, although he is hypertensive.
Patient 2 Jamie, age 3 years, was hospitalized by a pediatrician, having been referred with a diagnosis of achalasia after an esophagram. The child had a 6-month history of poor appetite, spitting up after eating, and nocturnal cough. He had been treated for allergy with little improvement. In December 1972, esophagoscopy was performed followed by transthoracic modified Heller esophagomyotomy. Postoperative course was smooth, and the child has had no further respiratory or swallowing problems. An esophagram on the sixth postoperative day disclosed considerable decrease in the size of the esophagus. At 19 years of age, he is hypertensive but has no respiratory or gastroenteric symptoms.
Patient 3 Jerret was 9 years old when hospitalized by a pediatrician with a diagnosis of achalasia. Seven months earlier cough developed, especially at night. Because exposure to barn Address reprint requests to Dr Monnig, 2360 Harbour Oaks Dr, Longboat Key, FL 34228.
0 1990 by The Society of Thoracic Surgeons
or grain dust seemed to aggravate the cough, allergies were suspected. Unlike his brothers, he gave no history of difficulty with swallowing or of vomiting, although it had been noted that his pillow and pajama tops were often wet in the morning. Ten days before hospitalization, he had a respiratory infection, and a patchy infiltrate was noted in the right lower lung field. Because of the family history, his family physician suggested an esophagram, which demonstrated achalasia. Jerret’s mother, a nurse, was chagrined that she had not considered this possibility earlier but was misled by the predominant respiratory symptoms. A transthoracic modified Heller procedure was performed in June 1975 with a satisfactory result. One month later, an esophagram demonstrated decrease in the esophageal caliber and postsurgical deformity of the distal esophagus. Jerret has remained asymptomatic except that at age 23 years he has also become hypertensive. After Jerret’s operation, the remaining 4 children born at that time were examined with esophagrams of which 3 showed negative results. Jody (patient 5 ) , a 9-year-old girl, had a mdderately suspicious radiographic examination but was asymptomatic. She was reexamined 1 year later at which time she was asymptomatic, and the moderate esophageal dilatation had decreased.
Patient 4 Jennifer was 5% months old when referred with a diagnosis of achalasia. Two weeks earlier, she had been started on pureed and solid foods, and it was noted that she would spit up food at night. She began having noisy respirations at night, similar to that experienced by her brothers. She also had increased regurgitation of saliva. Esophagram demonstrated a dilated esophagus with distal tapering. Examination was remarkable only in that the child spit up rather large amounts of saliva during the examination, even while sitting up. In August 1977, a transthoracic modified Heller procedure was done. The postoperative course was smooth, and esophagram on the eighth postoperative day demonstrated decrease in esophageal dilatation with slight postoperative irregularity of the distal esophagus. On reexamination 2% months later, she was thriving and had gained 0.9 kg. She had no cough, breathing difficulty, or regurgitation. She was seen again on February 1,1979, at the age of 23 months after examination by her family physician because of a recent cough. Chest roentgenogram disclosed a small infiltrate in the right paracardiac region. An esophagram was reported as showing dilatation of the distal esophagus plus the presence of a foreign body filling defect. On examination, the child weighed 12.7 kg. Her mother reported that she was a fair eater and had no apparent problem with swallowing. A review of the esophagram 0003-4975/90/$3.50
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REVIEW MONNIG ACHALASIA IN CHILDREN
suggested the possibility of a pineapple chunk, which the child had eaten the preceding night, as responsible for the filling defect. Otherwise, the x-ray films appeared essentially unchanged from the earlier postoperative films, with no dilatation above the myotomy site. Esophagogastroscopy was performed and there was no evidence of esophagitis, stricture, reflux, or foreign body. The esophagogastric junction tended to open slightly as the scope approached the junction, which the scope readily traversed. A repeated barium swallow demonstrated ready passage of barium into the stomach, with minimal delay of a small amount of barium. Now at 12 years of age, she is normal except for hypertension and has no swallowing problems.
Patient 5 Jody, a 19-year-old college student, was referred by a gastroenterologist with a diagnosis of achalasia. At the age of 9 years, she had an esophagram that suggested esophageal dilatation but was asymptomatic. On repeat radiographic examination 6 months later, the esophagus was thought to be improved. She remained asymptomatic until 7 months before referral at 19 years of age. At that time, she began to notice regurgitation of food when she would lie down. An esophagram demonstrated achalasia. She was referred to a gastroenterologist who performed a pneumatic dilation of the esophagus. Temporary improvement followed; she had no recurrence of regurgitation but did have an increasing sensation of food sticking in the esophagus and a nonproductive cough. The patient was slender, and physical examination was unremarkable. Her esophagrams demonstrated a moderately dilated esophagus with a tapered distal end. In May 1987, a transthoracic modified Heller esophagomyotomy was performed. She recovered uneventfully and reported a distinct improvement in swallowing. On reexamination 4 months later, she was asymptomatic and her cough had disappeared. A postoperative esophagram displayed a distinct decrease in esophageal dilatation. Now at age 21 years, she is asymptomatic. She was normotensive at the time of her operation. At the time of operation on patient 5, the patients’ mother reported that 4 of the children with achalasia had developed hypertension, while none of the children with no achalasia had become hypertensive. In a recent communication with the patients’ mother, all children with achalasia are asymptomatic with respect to their respiratory and gastrointestinal tracts. Also, 3 of the children with no achalasia are likewise asymptomatic. Swallowing symptoms that could be related to achalasia have developed in one male sibling now in his late twenties, but he refuses to have appropriate diagnostic studies. There is no history of alacrima or hypocorticism. There is also no history of achalasia in previous generations on either side of the family. The association of hypertension with achalasia in this family is probably not significant. The father is hypertensive, as are others on his side of the family. All 5 siblings with achalasia were treated surgically, 1 with transabdominal esophagocardiomyotomy, and 4, with transthoracic modified Heller esophagomyotomy in which particular care was taken to extend the myotomy
Ann Thorac Surg 1990;49:1019-22
onto the cardia 0.5 cm or less. The last patient was treated with esophageal dilation preoperatively with transient decrease in symptoms.
Comment Achalasia of the esophagus is an uncommon condition and is quite rare in children, especially in infants. Nevertheless, a number of reports from around the world demonstrate a familial occurrence of achalasia, with multiple siblings, both adult and children, being involved. The reasons for this familial occurrence have been speculated on, with environmental, infectious, and genetic factors being considered. (In a personal communication in 1975, Dr Hans Zellweger, Professor of Pediatrics at the University of Iowa and a geneticist, expressed the opinion that these reports of several affected siblings supported the assumption that achalasia occurs as an autosomal recessive trait in rare instances.) Several other reports (1-61 have made similar suggestions. Stein and Knauer [4] interpret the development of achalasia in cases of vertical transmission, the lack of consistent vertical transmission, and the finding of cases in families with consanguinity as suggestive of an autosomal recessive type of inheritance. Westley and colleagues [3] believed that the lack of evidence of vertical transmission and the occurrence of achalasia in children of both sexes and in multiple members of an extended family constituted strong evidence that a recessive gene was responsible for infantile achalasia. Mayberry and Atkinson [7] studied 1,012 first-degree relatives of 167 achalasia patients of which 14 were said to have dysphagia and 2 were reported to have achalasia. However, Mayberry and Atkinson were unable to confirm the diagnosis of achalasia in any of the relatives and concluded that adult achalasia is not inherited in an autosomal recessive fashion. Familial achalasia has also been noted in several families with a high degree of inbreeding [2-5, 81. In 1962, Tyce and Brough [9] reported multiple diseases inherited in three generations of a family. Of the 9 members of the third generation of this family, 7 were mentally retarded, and 4 brothers demonstrated achalasia, mental retardation, speech disorder, and neurological disease with cerebellar components. This is believed to be the first reported instance of familial achalasia. In 1965, Thibert and associates [lo] provided the first description of familial achalasia in children with reports of two separate groups of male siblings. One group included 4-year-old and 16-year-old brothers, and the other, 11year-old and 14-year-old brothers. Cloud and colleagues [ll]studied several children with achalasia, including 4 Apache Indian brothers. A Mexican family that immigrated to California had 3 children with achalasia, and a fourth who died in Mexico without medical attention may also have had this condition [12, 131. Additional reports of children with familial achalasia came from Turkey [14] and Hungary [15]. Bosher and Shaw [16] recorded the discovery and treatment of 2 brothers with achalasia in early childhood. Their review of the world literature in 1981 disclosed only 33 cases of familial achalasia including their own. Their
REVIEW MONNlG ACHALASIA IN CHILDREN
Ann Thorac Surg 1990;49:1019-22
report, however, d i d not include those noted above [9-111. It is important t o appreciate the clinical significance of pulmonary s y m p t o m s i n t h e diagnosis of achalasia i n c h i l d r e n . R e s p i r a t o r y symptoms i n c l u d i n g c o u g h , wheeze, and p n e u m o n i a were p r o m i n e n t i n all children w i t h achalasia i n t h e family on whom t h e present report is based. The importance of p u l m o n a r y symptoms in the histories of children with achalasia has been emphasized by Vaughan and Williams [17] and by Schultz [MI. A w i d e variety of syndromes associated w i t h achalasia has been reported and has been reviewed i n detail by Feldman [19]. These include Sjogren's s y n d r o m e [20, 211 and the so-called triple-A syndrome consisting of achalasia, adrenal insufficiency, and alacrima [8, 22-24]. Various forms of m e n t a l retardation i n association with achalasia have been reported [8, 9, 13, 241, as well as congenital cholinergic dysfunction i n identical infant twins [25]. Z i m m e r m a n and Rosenweig [6] h a v e commented t h a t approximately t w o thirds of reported cases of familial achalasia have occurred i n children under t h e age of 15 years. Yet, achalasia occurs i n children less than 5% of the time [l, 26, 271. In children w i t h achalasia, t h e treatment is preferably surgical [27-301. The results of dilation i n children are less satisfactory t h a n i n adults [27], a n d dilation is characterized as a temporizing, nondefinitive procedure by Polk and Burford [29]. The performance of a modified Heller esophagocardiomyotomy i n achalasia i n children achieves approximately 70% to 85% good long-term results [27, 29, 311. Careful attention t o t h e prevention of disturbance of t h e esophagogastric junction and limitation of t h e extension of t h e myotomy o n t o the gastric cardia should reduce t h e incid e n c e of postoperative reflux [29, 32, 331. Although t h e modified Heller myotomy i s t h e procedure of choice i n t h e m a n a g e m e n t of achalasia in children, some surgeons have added a Nissen fundoplication (341 or a modified Belsey mark IV fundoplication [35] when there was an increased risk of gastroesophageal reflux.
Conclusion Achalasia, although seen at all ages, is a n u n c o m m o n condition and i s rare i n children. I n m o s t cases there is no family history, and it occurs as a n isolated entity of unknown etiology. However, several reports from a r o u n d t h e world indicate a familial occurrence of achalasia. It has been suggested t h a t it may be transmitted a s an autosoma1 recessive trait; however, environmental and infectious etiologies have also been suggested w i t h little to support these theories, a l t h o u g h Chagas disease does cause a somewhat similar esophageal lesion. In the family of 9 children reported here, 5 siblings, aged 5% m o n t h s t o 19 years, were treated w i t h a modified Heller esophagom y o t o m y w i t h excellent results. A sixth sibling has sympt o m s t h a t a r e compatible w i t h achalasia, b u t has refused investigation. In each child reported here, respiratory s y m p t o m s s u c h as cough, wheeze, a n d p n e u m o n i a were p r o m i n e n t and were sometimes t h e initial symptoms.
1021
I am indebted to Dr Homer Skinner for furnishing the information regarding patient l.
References 1. London FA, Raab DE, Fuller J, Olsen AM. Achalasia in three siblings: a rare occurrence. Mayo Clin Proc 1977;52:97-100. 2. Dayalan N, Chettur L, Ramakrishnan MS. Achalasia of the cardia in sibs. Arch Dis Child 1972;47115-8. 3. Westley CR, Herbst JJ, Goldman S, Wiser WC. Infantile achalasia. Inherited as an autosomal recessive disorder. J Pediatr 1975;87243-6. 4. Stein DT, Knauer CM. Achalasia in monozygotic twins. Dig Dis Sci 1982;27636-40. 5. Rozychi DL, Ruben RJ, Rapin I, Spiro AJ. Autosomal recessive deafness. Associated with short stature, vitiligo, muscle weakness and achalasia. Arch Otolaryngol 1971;93:19&7. 6. Zimmerman FH, Rosenweig NS. Achalasia in a father and son. Am J Gastroenterol 1984;38:294-8. 7. Mayberry JF, Atkinson M. A study of swallowing difficulties in first degree relatives of patients with achalasia. Thorax 1985;40:391-3. 8. Khalifa MM. Familial achalasia, microcephaly, and mental retardation. Clin Pediatr 1988;27509-12. 9. Tyce FA, Brough W. The appearance of an undescribed syndrome and the inheritance of multiple diseases in three generations of a family. Psych Res Reports 1962;15:7>9. 10. Thibert F, Chicoine R, Chartier-Ratelle G, Thibodeau LP, Collin PP, Collu R. Forme familiale de l'achalasie de l'oesophage chez l'enfant. Union Med Can 1965;94:1293-300. 11. Cloud DT Jr, White RF, Linker LM, Taylor LC. Surgical treatment of esophageal achalasia in children. J Pediatr Surg 1966;1:137-44. 12. Polonsky L, Guth PH. Familial achalasia. Am J Dig Dis 1970;15:291-5. 13. Dumars KW, Williams JJ, Steele-Sandlin C. Achalasia and microcephaly. Am J Med Genet 1980;6:309-14. 14. Uzonov G. Familial achalasia of the esophagus in infancy. Radio1 Diagn 1982;23:313. 15. Koteles G, Kemeny P, Reich K. Familiare infantile achalasia-3 Falle bei Geschwistern einer Familie. Monatsschr Kinderheilkd 1975;123:9-14. 16. Bosher LP, Shaw A. Achalasia in siblings: clinical and genetic aspects. Am J Dis Child 1981;135:709-10. 17. Vaughan WH, Williams JL. Familial achalasia with pulmonary complications in children. Radiology 1973;107:407-9. 18. Schultz EH Jr. Achalasia in children as a cause of recurrent pulmonary disease. J Pediatr 1961;59:522-8. 19. Feldman M. Southwestern Internal Medical Conference: esophageal achalasia syndromes. Am J Med Sci 1988;295: 60-81. 20. Koivukangas T, Simila S, Heikkinen E, Rasanen 0, WaszHockert 0. Sjogren's syndrome and achalasia of the cardia in two siblings. Pediatrics 1973;51:94>5. 21. Simila S, Kokkonen J, Kaski M. Achalasia Sicca-juvenile Sjogren's syndrome with achalasia and gastric hyposecretion. Eur J Pediatr 1978;129:175-81. 22. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978;1:1284-6. 23. Esposti AD, Ambrosioni G, Giardina A, et al. Sindrome familiare di ipoglicorticismo da insensibilita all'ACTH, acalasia, alacrimia, con associata neuromiopatia distale. Minerva Pediatr 1985;37:35>9. 24. Ehrich E, Aranoff G, Johnson WG. Familial achalasia associ-
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25. 26. 27.
28. 29. 30.
REVIEW MONNIG ACHALASIA IN CHILDREN
ated with adrenocortical insufficiency, alacrima, and neurological abnormalities. Am J Med Genet 1987;26:637-44. K e n CL, Herrmann J, Hogan W. Congenital cholinergic nervous system dysfunction in identical twins. Ann Neurol 1981;10:576-9. Moersch H. Cardiospasm in infancy and in childhood. Am J Dis Child 1929;38:294-8. Payne WS, Ellis FH Jr, Olsen AM. Treatment of cardiospasm (achalasia of the esophagus) in children. Surgery 1%1;50731-5. Moazam F, Rodgers BM. Infantile achalasia. J Thorac Cardiovasc Surg 1976;72:809-11. Ferguson TB, Burford TH. An evaluation of the modified Heller operation in the treatment of achalasia of the esophagus. Ann Surg 1960;152:1-9. Polk HC Jr, Burford TH. Disorders of the distal esophagus in infancy and childhood. Am J Dis Child 1964;108:243-51.
Ann Thorac Surg 1990;49:1019-22
31. Vane DW, Cosby K, West K, Grosfeld JL. Late results following esophagomyotomy in children with achalasia. J Pediatr Surg 1988;23:515-9. 32. Redo SF, Bauer CH. Management of achalasia in infancy and childhood. Surgery 1963;53:26>9. 33. Ellis FH Jr, Kiser JC, Schlegel JF, Earlam RJ, McVey JL, Olsen AM. Esophagomyotomy for esophageal achalasia: experimental, clinical, and manometric aspects. Ann Surg 1967; 166:640-55. 34. Berquist WE, Byrne WJ, Ament ME, Fonkalsrud EW, Euler AR. Achalasia: diagnosis, management, and clinical course in 16 children. Pediatrics 1983;71:798-&304. 35. Lemmer JH, Coran AG, Wesley JR, Polley TZ Jr, Byrne WJ. Achalasia in children: treatment by anterior esophageal myotomy (modified Heller operation). J Pediatr Surg 1985;20: 333-8.
Familial Achalasia in Children P. J. Monnig, MD Departments of Surgery, St Joseph Mercy Hospital and Marian Health Center, Sioux City, Iowa
Familial achalasia is rare, especially in children. Five siblings with achalasia surgically treated at ages 5% months to 19 years are reported. There is no history of consanguinity or of vertical transmission. (Ann Thorac Surg 1990;49:1019-22)
T
his report is concerned with 5 sibling children (3 boys and 2 girls) with achalasia of the esophagus who were operated on between 1964 and 1987 at the ages of 5% months, 2, 3, 9, and 19 years. They are from an Iowa family with 9 children, in which the father is a farmer and the mother is a registered nurse. There is no history of consanguinity or vertical transmission.
Case Reports Patient 1 John, age 2 years, was cared for by Dr Homer Skinner of Carroll, Iowa. The child had swallowing difficulty, especially with solid food, since birth. He had pneumonia twice during his first year of life. Physical examination was unremarkable, but an esophagram disclosed wide dilatation with distal narrowing. Transabdominal esophagocardiomyotomy was performed in October 1964 by Dr Skinner with an excellent result. An esophagram 6% years later showed an apparently normal esophagus. He is now 27 years old and has no swallowing or respiratory symptoms, although he is hypertensive.
Patient 2 Jamie, age 3 years, was hospitalized by a pediatrician, having been referred with a diagnosis of achalasia after an esophagram. The child had a 6-month history of poor appetite, spitting up after eating, and nocturnal cough. He had been treated for allergy with little improvement. In December 1972, esophagoscopy was performed followed by transthoracic modified Heller esophagomyotomy. Postoperative course was smooth, and the child has had no further respiratory or swallowing problems. An esophagram on the sixth postoperative day disclosed considerable decrease in the size of the esophagus. At 19 years of age, he is hypertensive but has no respiratory or gastroenteric symptoms.
Patient 3 Jerret was 9 years old when hospitalized by a pediatrician with a diagnosis of achalasia. Seven months earlier cough developed, especially at night. Because exposure to barn Address reprint requests to Dr Monnig, 2360 Harbour Oaks Dr, Longboat Key, FL 34228.
0 1990 by The Society of Thoracic Surgeons
or grain dust seemed to aggravate the cough, allergies were suspected. Unlike his brothers, he gave no history of difficulty with swallowing or of vomiting, although it had been noted that his pillow and pajama tops were often wet in the morning. Ten days before hospitalization, he had a respiratory infection, and a patchy infiltrate was noted in the right lower lung field. Because of the family history, his family physician suggested an esophagram, which demonstrated achalasia. Jerret’s mother, a nurse, was chagrined that she had not considered this possibility earlier but was misled by the predominant respiratory symptoms. A transthoracic modified Heller procedure was performed in June 1975 with a satisfactory result. One month later, an esophagram demonstrated decrease in the esophageal caliber and postsurgical deformity of the distal esophagus. Jerret has remained asymptomatic except that at age 23 years he has also become hypertensive. After Jerret’s operation, the remaining 4 children born at that time were examined with esophagrams of which 3 showed negative results. Jody (patient 5 ) , a 9-year-old girl, had a mdderately suspicious radiographic examination but was asymptomatic. She was reexamined 1 year later at which time she was asymptomatic, and the moderate esophageal dilatation had decreased.
Patient 4 Jennifer was 5% months old when referred with a diagnosis of achalasia. Two weeks earlier, she had been started on pureed and solid foods, and it was noted that she would spit up food at night. She began having noisy respirations at night, similar to that experienced by her brothers. She also had increased regurgitation of saliva. Esophagram demonstrated a dilated esophagus with distal tapering. Examination was remarkable only in that the child spit up rather large amounts of saliva during the examination, even while sitting up. In August 1977, a transthoracic modified Heller procedure was done. The postoperative course was smooth, and esophagram on the eighth postoperative day demonstrated decrease in esophageal dilatation with slight postoperative irregularity of the distal esophagus. On reexamination 2% months later, she was thriving and had gained 0.9 kg. She had no cough, breathing difficulty, or regurgitation. She was seen again on February 1,1979, at the age of 23 months after examination by her family physician because of a recent cough. Chest roentgenogram disclosed a small infiltrate in the right paracardiac region. An esophagram was reported as showing dilatation of the distal esophagus plus the presence of a foreign body filling defect. On examination, the child weighed 12.7 kg. Her mother reported that she was a fair eater and had no apparent problem with swallowing. A review of the esophagram 0003-4975/90/$3.50
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REVIEW MONNIG ACHALASIA IN CHILDREN
suggested the possibility of a pineapple chunk, which the child had eaten the preceding night, as responsible for the filling defect. Otherwise, the x-ray films appeared essentially unchanged from the earlier postoperative films, with no dilatation above the myotomy site. Esophagogastroscopy was performed and there was no evidence of esophagitis, stricture, reflux, or foreign body. The esophagogastric junction tended to open slightly as the scope approached the junction, which the scope readily traversed. A repeated barium swallow demonstrated ready passage of barium into the stomach, with minimal delay of a small amount of barium. Now at 12 years of age, she is normal except for hypertension and has no swallowing problems.
Patient 5 Jody, a 19-year-old college student, was referred by a gastroenterologist with a diagnosis of achalasia. At the age of 9 years, she had an esophagram that suggested esophageal dilatation but was asymptomatic. On repeat radiographic examination 6 months later, the esophagus was thought to be improved. She remained asymptomatic until 7 months before referral at 19 years of age. At that time, she began to notice regurgitation of food when she would lie down. An esophagram demonstrated achalasia. She was referred to a gastroenterologist who performed a pneumatic dilation of the esophagus. Temporary improvement followed; she had no recurrence of regurgitation but did have an increasing sensation of food sticking in the esophagus and a nonproductive cough. The patient was slender, and physical examination was unremarkable. Her esophagrams demonstrated a moderately dilated esophagus with a tapered distal end. In May 1987, a transthoracic modified Heller esophagomyotomy was performed. She recovered uneventfully and reported a distinct improvement in swallowing. On reexamination 4 months later, she was asymptomatic and her cough had disappeared. A postoperative esophagram displayed a distinct decrease in esophageal dilatation. Now at age 21 years, she is asymptomatic. She was normotensive at the time of her operation. At the time of operation on patient 5, the patients’ mother reported that 4 of the children with achalasia had developed hypertension, while none of the children with no achalasia had become hypertensive. In a recent communication with the patients’ mother, all children with achalasia are asymptomatic with respect to their respiratory and gastrointestinal tracts. Also, 3 of the children with no achalasia are likewise asymptomatic. Swallowing symptoms that could be related to achalasia have developed in one male sibling now in his late twenties, but he refuses to have appropriate diagnostic studies. There is no history of alacrima or hypocorticism. There is also no history of achalasia in previous generations on either side of the family. The association of hypertension with achalasia in this family is probably not significant. The father is hypertensive, as are others on his side of the family. All 5 siblings with achalasia were treated surgically, 1 with transabdominal esophagocardiomyotomy, and 4, with transthoracic modified Heller esophagomyotomy in which particular care was taken to extend the myotomy
Ann Thorac Surg 1990;49:1019-22
onto the cardia 0.5 cm or less. The last patient was treated with esophageal dilation preoperatively with transient decrease in symptoms.
Comment Achalasia of the esophagus is an uncommon condition and is quite rare in children, especially in infants. Nevertheless, a number of reports from around the world demonstrate a familial occurrence of achalasia, with multiple siblings, both adult and children, being involved. The reasons for this familial occurrence have been speculated on, with environmental, infectious, and genetic factors being considered. (In a personal communication in 1975, Dr Hans Zellweger, Professor of Pediatrics at the University of Iowa and a geneticist, expressed the opinion that these reports of several affected siblings supported the assumption that achalasia occurs as an autosomal recessive trait in rare instances.) Several other reports (1-61 have made similar suggestions. Stein and Knauer [4] interpret the development of achalasia in cases of vertical transmission, the lack of consistent vertical transmission, and the finding of cases in families with consanguinity as suggestive of an autosomal recessive type of inheritance. Westley and colleagues [3] believed that the lack of evidence of vertical transmission and the occurrence of achalasia in children of both sexes and in multiple members of an extended family constituted strong evidence that a recessive gene was responsible for infantile achalasia. Mayberry and Atkinson [7] studied 1,012 first-degree relatives of 167 achalasia patients of which 14 were said to have dysphagia and 2 were reported to have achalasia. However, Mayberry and Atkinson were unable to confirm the diagnosis of achalasia in any of the relatives and concluded that adult achalasia is not inherited in an autosomal recessive fashion. Familial achalasia has also been noted in several families with a high degree of inbreeding [2-5, 81. In 1962, Tyce and Brough [9] reported multiple diseases inherited in three generations of a family. Of the 9 members of the third generation of this family, 7 were mentally retarded, and 4 brothers demonstrated achalasia, mental retardation, speech disorder, and neurological disease with cerebellar components. This is believed to be the first reported instance of familial achalasia. In 1965, Thibert and associates [lo] provided the first description of familial achalasia in children with reports of two separate groups of male siblings. One group included 4-year-old and 16-year-old brothers, and the other, 11year-old and 14-year-old brothers. Cloud and colleagues [ll]studied several children with achalasia, including 4 Apache Indian brothers. A Mexican family that immigrated to California had 3 children with achalasia, and a fourth who died in Mexico without medical attention may also have had this condition [12, 131. Additional reports of children with familial achalasia came from Turkey [14] and Hungary [15]. Bosher and Shaw [16] recorded the discovery and treatment of 2 brothers with achalasia in early childhood. Their review of the world literature in 1981 disclosed only 33 cases of familial achalasia including their own. Their
REVIEW MONNlG ACHALASIA IN CHILDREN
Ann Thorac Surg 1990;49:1019-22
report, however, d i d not include those noted above [9-111. It is important t o appreciate the clinical significance of pulmonary s y m p t o m s i n t h e diagnosis of achalasia i n c h i l d r e n . R e s p i r a t o r y symptoms i n c l u d i n g c o u g h , wheeze, and p n e u m o n i a were p r o m i n e n t i n all children w i t h achalasia i n t h e family on whom t h e present report is based. The importance of p u l m o n a r y symptoms in the histories of children with achalasia has been emphasized by Vaughan and Williams [17] and by Schultz [MI. A w i d e variety of syndromes associated w i t h achalasia has been reported and has been reviewed i n detail by Feldman [19]. These include Sjogren's s y n d r o m e [20, 211 and the so-called triple-A syndrome consisting of achalasia, adrenal insufficiency, and alacrima [8, 22-24]. Various forms of m e n t a l retardation i n association with achalasia have been reported [8, 9, 13, 241, as well as congenital cholinergic dysfunction i n identical infant twins [25]. Z i m m e r m a n and Rosenweig [6] h a v e commented t h a t approximately t w o thirds of reported cases of familial achalasia have occurred i n children under t h e age of 15 years. Yet, achalasia occurs i n children less than 5% of the time [l, 26, 271. In children w i t h achalasia, t h e treatment is preferably surgical [27-301. The results of dilation i n children are less satisfactory t h a n i n adults [27], a n d dilation is characterized as a temporizing, nondefinitive procedure by Polk and Burford [29]. The performance of a modified Heller esophagocardiomyotomy i n achalasia i n children achieves approximately 70% to 85% good long-term results [27, 29, 311. Careful attention t o t h e prevention of disturbance of t h e esophagogastric junction and limitation of t h e extension of t h e myotomy o n t o the gastric cardia should reduce t h e incid e n c e of postoperative reflux [29, 32, 331. Although t h e modified Heller myotomy i s t h e procedure of choice i n t h e m a n a g e m e n t of achalasia in children, some surgeons have added a Nissen fundoplication (341 or a modified Belsey mark IV fundoplication [35] when there was an increased risk of gastroesophageal reflux.
Conclusion Achalasia, although seen at all ages, is a n u n c o m m o n condition and i s rare i n children. I n m o s t cases there is no family history, and it occurs as a n isolated entity of unknown etiology. However, several reports from a r o u n d t h e world indicate a familial occurrence of achalasia. It has been suggested t h a t it may be transmitted a s an autosoma1 recessive trait; however, environmental and infectious etiologies have also been suggested w i t h little to support these theories, a l t h o u g h Chagas disease does cause a somewhat similar esophageal lesion. In the family of 9 children reported here, 5 siblings, aged 5% m o n t h s t o 19 years, were treated w i t h a modified Heller esophagom y o t o m y w i t h excellent results. A sixth sibling has sympt o m s t h a t a r e compatible w i t h achalasia, b u t has refused investigation. In each child reported here, respiratory s y m p t o m s s u c h as cough, wheeze, a n d p n e u m o n i a were p r o m i n e n t and were sometimes t h e initial symptoms.
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I am indebted to Dr Homer Skinner for furnishing the information regarding patient l.
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