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Family cases of gastroschisis
Journal of Pediatric Surgery (2005) 40, 740 – 741
www.elsevier.com/locate/jpedsurg
Family cases of gastroschisis Annika I. Schmidta,*, Sylvia Glu¨era, Konrad Mu¨hlhausb, Benno Manfred Urea a
Department of Paediatric Surgery, Medical School Hannover, 30625 Hannover, Germany Clinic of Prenatal Medicine, Podbielskistr 122, D-30177 Hannover, Germany
b
Index words: Gastroschisis; Familial; Etiology; Siblings
Abstract The etiology of gastroschisis is still unclear. To the authors’ knowledge, there are only 14 cases of familial gastroschisis in the literature. The authors add the second case of mother-and-son occurrence and a case of siblings occurrence, thereby updating the current literature for family gastroschisis. D 2005 Elsevier Inc. All rights reserved.
Gastroschisis is a congenital right abdominal wall defect with an incidence of 1 to 7 in 10 000 births [1]. Gastroschisis occurs with uncovered organs protruding out of a defect, usually lateral the umbilicus on the right side. Environmental, genetic, and multifactorial causes have been considered [1], but the exact etiology still remains unclear. Until now, there have only been 14 reports of familial cases of gastroschisis (Table 1). We now add 2 further cases.
1. Patients 1.1. Family 1 (siblings) The first sibling is female, born in 1994 in the 33rd week of gestation by cesarean section, with a birth weight of 2160 g, after prenatal diagnosis of gastroschisis. Her mother was 23 years old. Postnatally, gastroschisis was confirmed, and a primary closure of the abdominal wall defect was performed. The postoperative course was without complications. The child is thriving. The second sibling is male, born in 1999 by cesarean section in the 33rd week of pregnancy, with a birth weight of 1910 g, after prenatal diagnosis of gastroschisis. Postnatally,
the diagnosis of gastroschisis was confirmed with atresia at the cecum. Primary closure of the abdominal wall defect was possible with double lumen colostomy. The colostomy was closed 4 weeks later. Postoperatively, the child was thriving satisfactorily. At the age of 6 months, he had pneumococcus meningitis with residual neurological impairment. 1.2. Family 2 (mother and son) The mother of the following child was born in 1976. Postnatally, primary abdominal wall closure for gastroschisis with subsequent uneventful course. The mother is now 26 years old and healthy. Her son was born in 2001 in the 39th week of pregnancy with a birth weight of 2780 g. Diagnosis of gastroschisis was made in the 14th week of pregnancy. The mother was 24 years old. Postnatally, gastroschisis was confirmed with atresia at the ileocecal area. Primary closure of the abdominal wall defect, with a colostomy and ileostomy, was performed. Closure of the colostomy and ileostomy took place at the age of 2 months. Another operation was necessary for ileus at the age of 5 months. There have been recurrent hospitalizations for chronic subileus.
2. Discussion T Corresponding author. E-mail address: [email protected] (A.I. Schmidt). 0022-3468/$ – see front matter D 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2005.01.017
Currently, the cause of gastroschisis is not well understood. Teratologic factors, such as maternal age, smoking
Family cases of gastroschisis Table 1
741
Family cases of gastroschisis reported in the literature
Case no.
Author
Cases
Sex
Maternal age (y)
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16
Nelson and Toyama, 1995 [1] Chun et al, 2001 [2] Chun et al, 2001 [2] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Ng et al, 1994 [4] Ravasse et al, 1994 [5] Lowry and Baird, 1982 [6] Salinas et al, 1979 [7] Salinas et al, 1979 [7] Current series Current series
Mother and son Siblings Siblings Siblings Great uncle/nephew Cousins relative second removed Half-siblings Half-siblings Cousins Siblings Cousins Siblings Siblings Siblings Siblings Mother and son
Female/male Male/female Male/male Male/male Male/male Female/female Male/male Female/male Female/n.m. Female/female Male/male Female/male Female/male Male/male Female/male Female/male
n.m./22 26/n.m. 17/n.m. 23/n.m. 23/n.m. 18/n.m. 23/n.m. 33/n.m. 21/26 21/22 n.m./n.m. n.m./n.m. 20/22 23/25 23/28 n.m./24
n.m. Indicates not mentioned.
during pregnancy, and a low social status, were postulated [2,8,9]. The abuse of alcohol and drugs occurred more often in pregnancies with affected children [4,9]. However, a comparison with the general population showed no significant difference [10]. There was no abuse of drugs or alcohol in our cases. In several studies, the maternal age was regarded to be significantly lower for children with gastroschisis (17-23 years; Refs. [1-3,8,11-13]) than the age of mothers with healthy children (27-28 years; Refs. [8,11]). The mothers of our children were 23 and 24 years old at time of pregnancy. In addition, genetic causes are discussed. In mice, genetic findings regarding the BMP-1 gene could not be confirmed as responsible for the etiology of gastroschisis [11]. A familial recurrence of gastroschisis with an incidence of 3.5% for sibling recurrence and 4.7% for another familial occurrence was reported from a population-based registry by Torfs and Curry [3]. Another study showed a preponderance of male infants for the occurrence of gastroschisis [9]. The male/female ratio of gastroschisis in California was 1.68, which is significantly higher than the ratio for the normal population. This preponderance of male infants was confirmed in the population-based registry by Torfs and Curry with a ratio of 1.54 [3]. The sex ratio of spontaneous and familial gastroschisis was not significantly different [3]. However, contrary to these reports, the male/female ratio of gastroschisis in England was 0.8 [10]. Although not representative, we add 2 affected boys and 2 affected girls. Our report describes the second reported case of motherand-son occurrence. Despite the postulated relatively high
incidence of familial gastroschisis, there are few cases reported. This might be because of underreporting or to the relatively small number of gastroschisis children who have grown to reproductive age.
References [1] Nelson TC, Toyama WM. Familial gastroschisis: a case of motherand-son occurrence. J Pediatr Surg 1995;30:1706 - 8. [2] Chun K, Andrews HG, White JJ. Gastroschisis in successive siblings: further evidence of an acquired etiology. J Pediatr Surg 1993;28:838 - 9. [3] Torfs CP, Curry CJR. Familial cases of gastroschisis in a populationbased registry. Am J Med Genet 1993;45:465 - 7. [4] Ng JW, Kong CK, Wong MK, et al. Familial gastroschisis in siblings is rare. J Pediatr Surg 1994;29(12):1637 - 8. [5] Ravasse P, Kabesh A, Mitrofanoff P, et al. Laparoschisis: a familial form. Arch Pediatr 1994;1(11):1019 - 21. [6] Lowry RB, Baird PA. Familial gastroschisis and omphalocele. Am J Hum Genet 1982;34(3):517 - 8. [7] Salinas CF, Barthoshesky L, Othersen Jr HB, et al. Familial occurrence of gastroschisis. Four new cases and review of literature. Am J Dis Child 1979;133(5):514 - 7. [8] Bugge M, Petersen MB, Christensen MF. Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet 1994;52:223 - 6. [9] Torfs CP, Velie EM, Oechsli FW, et al. A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology 1994;50:44 - 53. [10] Penman DG, Fisher RM, Noblett HR, et al. Increase in incidence of gastroschisis in the south west of England in 1995. Br J Obstet Gynaecol 1998;105:328 - 31. [11] Komuro H, Mori M, Hayashi Y, et al. Mutational analysis of the BMP-1 gene in patients with gastroschisis. J Pediatr Surg 2001;36:885 - 7.
www.elsevier.com/locate/jpedsurg
Family cases of gastroschisis Annika I. Schmidta,*, Sylvia Glu¨era, Konrad Mu¨hlhausb, Benno Manfred Urea a
Department of Paediatric Surgery, Medical School Hannover, 30625 Hannover, Germany Clinic of Prenatal Medicine, Podbielskistr 122, D-30177 Hannover, Germany
b
Index words: Gastroschisis; Familial; Etiology; Siblings
Abstract The etiology of gastroschisis is still unclear. To the authors’ knowledge, there are only 14 cases of familial gastroschisis in the literature. The authors add the second case of mother-and-son occurrence and a case of siblings occurrence, thereby updating the current literature for family gastroschisis. D 2005 Elsevier Inc. All rights reserved.
Gastroschisis is a congenital right abdominal wall defect with an incidence of 1 to 7 in 10 000 births [1]. Gastroschisis occurs with uncovered organs protruding out of a defect, usually lateral the umbilicus on the right side. Environmental, genetic, and multifactorial causes have been considered [1], but the exact etiology still remains unclear. Until now, there have only been 14 reports of familial cases of gastroschisis (Table 1). We now add 2 further cases.
1. Patients 1.1. Family 1 (siblings) The first sibling is female, born in 1994 in the 33rd week of gestation by cesarean section, with a birth weight of 2160 g, after prenatal diagnosis of gastroschisis. Her mother was 23 years old. Postnatally, gastroschisis was confirmed, and a primary closure of the abdominal wall defect was performed. The postoperative course was without complications. The child is thriving. The second sibling is male, born in 1999 by cesarean section in the 33rd week of pregnancy, with a birth weight of 1910 g, after prenatal diagnosis of gastroschisis. Postnatally,
the diagnosis of gastroschisis was confirmed with atresia at the cecum. Primary closure of the abdominal wall defect was possible with double lumen colostomy. The colostomy was closed 4 weeks later. Postoperatively, the child was thriving satisfactorily. At the age of 6 months, he had pneumococcus meningitis with residual neurological impairment. 1.2. Family 2 (mother and son) The mother of the following child was born in 1976. Postnatally, primary abdominal wall closure for gastroschisis with subsequent uneventful course. The mother is now 26 years old and healthy. Her son was born in 2001 in the 39th week of pregnancy with a birth weight of 2780 g. Diagnosis of gastroschisis was made in the 14th week of pregnancy. The mother was 24 years old. Postnatally, gastroschisis was confirmed with atresia at the ileocecal area. Primary closure of the abdominal wall defect, with a colostomy and ileostomy, was performed. Closure of the colostomy and ileostomy took place at the age of 2 months. Another operation was necessary for ileus at the age of 5 months. There have been recurrent hospitalizations for chronic subileus.
2. Discussion T Corresponding author. E-mail address: [email protected] (A.I. Schmidt). 0022-3468/$ – see front matter D 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2005.01.017
Currently, the cause of gastroschisis is not well understood. Teratologic factors, such as maternal age, smoking
Family cases of gastroschisis Table 1
741
Family cases of gastroschisis reported in the literature
Case no.
Author
Cases
Sex
Maternal age (y)
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16
Nelson and Toyama, 1995 [1] Chun et al, 2001 [2] Chun et al, 2001 [2] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Torfs and Curry, 1993 [3] Ng et al, 1994 [4] Ravasse et al, 1994 [5] Lowry and Baird, 1982 [6] Salinas et al, 1979 [7] Salinas et al, 1979 [7] Current series Current series
Mother and son Siblings Siblings Siblings Great uncle/nephew Cousins relative second removed Half-siblings Half-siblings Cousins Siblings Cousins Siblings Siblings Siblings Siblings Mother and son
Female/male Male/female Male/male Male/male Male/male Female/female Male/male Female/male Female/n.m. Female/female Male/male Female/male Female/male Male/male Female/male Female/male
n.m./22 26/n.m. 17/n.m. 23/n.m. 23/n.m. 18/n.m. 23/n.m. 33/n.m. 21/26 21/22 n.m./n.m. n.m./n.m. 20/22 23/25 23/28 n.m./24
n.m. Indicates not mentioned.
during pregnancy, and a low social status, were postulated [2,8,9]. The abuse of alcohol and drugs occurred more often in pregnancies with affected children [4,9]. However, a comparison with the general population showed no significant difference [10]. There was no abuse of drugs or alcohol in our cases. In several studies, the maternal age was regarded to be significantly lower for children with gastroschisis (17-23 years; Refs. [1-3,8,11-13]) than the age of mothers with healthy children (27-28 years; Refs. [8,11]). The mothers of our children were 23 and 24 years old at time of pregnancy. In addition, genetic causes are discussed. In mice, genetic findings regarding the BMP-1 gene could not be confirmed as responsible for the etiology of gastroschisis [11]. A familial recurrence of gastroschisis with an incidence of 3.5% for sibling recurrence and 4.7% for another familial occurrence was reported from a population-based registry by Torfs and Curry [3]. Another study showed a preponderance of male infants for the occurrence of gastroschisis [9]. The male/female ratio of gastroschisis in California was 1.68, which is significantly higher than the ratio for the normal population. This preponderance of male infants was confirmed in the population-based registry by Torfs and Curry with a ratio of 1.54 [3]. The sex ratio of spontaneous and familial gastroschisis was not significantly different [3]. However, contrary to these reports, the male/female ratio of gastroschisis in England was 0.8 [10]. Although not representative, we add 2 affected boys and 2 affected girls. Our report describes the second reported case of motherand-son occurrence. Despite the postulated relatively high
incidence of familial gastroschisis, there are few cases reported. This might be because of underreporting or to the relatively small number of gastroschisis children who have grown to reproductive age.
References [1] Nelson TC, Toyama WM. Familial gastroschisis: a case of motherand-son occurrence. J Pediatr Surg 1995;30:1706 - 8. [2] Chun K, Andrews HG, White JJ. Gastroschisis in successive siblings: further evidence of an acquired etiology. J Pediatr Surg 1993;28:838 - 9. [3] Torfs CP, Curry CJR. Familial cases of gastroschisis in a populationbased registry. Am J Med Genet 1993;45:465 - 7. [4] Ng JW, Kong CK, Wong MK, et al. Familial gastroschisis in siblings is rare. J Pediatr Surg 1994;29(12):1637 - 8. [5] Ravasse P, Kabesh A, Mitrofanoff P, et al. Laparoschisis: a familial form. Arch Pediatr 1994;1(11):1019 - 21. [6] Lowry RB, Baird PA. Familial gastroschisis and omphalocele. Am J Hum Genet 1982;34(3):517 - 8. [7] Salinas CF, Barthoshesky L, Othersen Jr HB, et al. Familial occurrence of gastroschisis. Four new cases and review of literature. Am J Dis Child 1979;133(5):514 - 7. [8] Bugge M, Petersen MB, Christensen MF. Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet 1994;52:223 - 6. [9] Torfs CP, Velie EM, Oechsli FW, et al. A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology 1994;50:44 - 53. [10] Penman DG, Fisher RM, Noblett HR, et al. Increase in incidence of gastroschisis in the south west of England in 1995. Br J Obstet Gynaecol 1998;105:328 - 31. [11] Komuro H, Mori M, Hayashi Y, et al. Mutational analysis of the BMP-1 gene in patients with gastroschisis. J Pediatr Surg 2001;36:885 - 7.