Novel Insights from Clinical Practice Gynecol Obstet Invest DOI: 10.1159/000365330
Received: April 7, 2014 Accepted after revision: June 18, 2014 Published online: September 4, 2014
Chronic Abdominal Pain in a Patient with Escobar Syndrome Ülkü Mete Ural a Yeşim Bayoğlu Tekın a Figen Kir Şahın a Başar Erdıvanli b Hızır Kazdal b Departments of aObstetrics and Gynecology and b Anesthesiology, Recep Tayyip Erdoğan University School of Medicine, Rize, Turkey
Established Facts • Multiple pterygium syndrome or Escobar syndrome is a rare autosomal recessive disorder characterized by multiple congenital joint contractures, multiple skin webs, camptodactyly with or without syndactyly, distinct facial appearance with ptosis and antimongoloid eye slant, short stature, kyphoscoliosis and vertebral segmentation anomalies.
Novel Insights • Abdominal pain due to imperforate hymen can be a part of the clinical presentation in Escobar syndrome. This situation has not been reported in any of the previously described Escobar syndrome cases. As far as we know, our case is the first Escobar syndrome patient with imperforate hymen. Careful evaluation of these patients must include a complete gynaecological assessment and, if indicated, surgical treatment must be performed without delay.
Abstract Escobar syndrome is characterized with multiple pterygia or webs of the skin and multiple congenital anomalies. We present a 15-year-old patient with Escobar syndrome who complained of persistent blunt abdominal pain for 1 year. Preoperative evaluation confirmed the diagnosis of imperfo-
© 2014 S. Karger AG, Basel 0378–7346/14/0000–0000$39.50/0 E-Mail [email protected] www.karger.com/goi
rate hymen, and the patient underwent hymenectomy under intravenous sedation. The patient’s postoperative course was uneventful and her complaints resolved completely. After a 3-month follow-up, she reported having normal menstrual bleeding intervals each month without any complications. Patients with Escobar syndrome may suffer from abdominal pain due to imperforate hymen. Careful evaluation of these patients must include a complete gynaecological assessment and, if indicated, surgical treatment must be performed without delay. © 2014 S. Karger AG, Basel
Ülkü Mete Ural, MD Department of Obstetrics and Gynecology Recep Tayyip Erdoğan University School of Medicine İslampaşa Mah., TR–53100 Rize (Turkey) E-Mail ulkumete2004 @ yahoo.com
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
Key Words Escobar syndrome · Multiple pterygium syndrome · Imperforate hymen · Abdominal pain
Color version available online
Introduction
Multiple pterygium syndrome (MPS) is a rare condition characterized with multiple pterygia and joint contractures [1]. There are two forms of MPS: the Escobar type is a rare autosomal recessive disorder and is the milder of the two types. Lethal MPS is associated with stillbirth [2]. In this case report, we describe a 15-year-old female infant with Escobar syndrome (ES) presenting with abdominal pain of unknown aetiology. On physical examination and radiological evaluation, a diagnosis of imperforate hymen was confirmed. As far as we know, our case is unique since imperforate hymen has not been reported in ES yet.
Fig. 1. Anomalies involving the craniofacial region, hand and fin-
Case Report
gers.
2
Gynecol Obstet Invest DOI: 10.1159/000365330
Fig. 2. MRI (T2A), sagittal plan, normal uterus and the mass of haematocolpos.
Discussion
MPS is a rare, autosomal recessive disorder characterized by multiple congenital joint contractures, multiple skin webs, camptodactyly with or without syndactyly, distinct facial appearance with ptosis and antimongoloid Mete Ural /Bayoğlu Tekın /Kir Şahın / Erdıvanli /Kazdal
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
A 15-year-old female complaining of abdominal pain was admitted to the outpatient clinic of the obstetrics and gynaecology department of our tertiary care centre. On physical examination, she presented with multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints. There were striking craniofacial defects including ectropion, blepharophimosis, hypoplastic nose and oral cavities, micrognathia, absence of eyebrows and eyelashes, alopecia, asymmetric and widely spaced nipples and hypoplastic labia majora were also noted. There were flexion contractures of the elbow and knee joints and arthrogryposis at the knee and hip joints. Complete syndactyly with fusion of all digits on the hands and feet, bilateral pes equinovarus deformities, and a band-like web connecting the both feet were present. Finger and toenail, phalangeal and palmar creases were absent (fig. 1). She was diagnosed with ES soon after birth and underwent multiple surgical procedures for pterygia or webbing, orolabial synechia and anal stenosis. Her chief complaint for admittance to our hospital was lower abdominal pain that had lasted for 1 year. There was a history of cyclical abdominal pain that exacerbated for 5 months. The patient had not started her menses yet. Abdominal examination revealed a palpable fullness and tenderness of the pelvic region. In pelvic examination the hymen was found to be imperforate. The uterus and bilateral ovaries were normal. Abdominal magnetic resonance imaging (MRI) showed a 95 × 76 mm hyperintense unilocular cystic mass behind the bladder suggestive of haematocolpos (fig. 2). All laboratory tests, CA-125 and CA-19.9 levels were normal. The patient was preoperatively evaluated by an anaesthesiologist. The mental state of the patient was normal and communication could readily be established with her before and after the intervention. Informed consent had been obtained from the patient. She underwent surgical procedure for hymenotomy by elliptical incision with electrocautery. The edges were everted. Around 1,000 ml of dark, red, tarry blood was drained (fig. 3). The postoperative period was uneventful and during the 3-month follow-up she was asymptomatic and had two normal menstrual cycles. Her pelvic ultrasonography was normal.
haematocolpos.
eye slant, short stature, kyphoscoliosis, and vertebral segmentation anomalies [3]. The incidence of all forms of pterygium syndrome is uncertain and they are mostly non-specifically termed as arthrogryposis. The vast majority of previous publications on this entity are individual case reports [2–5]. The syndrome is characterized by flexion contractures. Cleft palate, deafness, short stature, and scoliosis are frequently present as well. The disease process is progressive, with about 20% developing decreased pulmonary capacity and increasing spinal deformity [5]. Affected individuals typically do not have muscle weakness later in life [6]. In cases with ES, genitourinary system involvement has been reported in addition to the typical features mentioned above. Males may have a small penis and scrotum and cryptorchidism, while aplasia of the labia majora and small clitoris may be encountered in females. Hypoplasia of labia majora has been described in ES patients before. However, an imperforate hymen that was supposed to result in the abdominal pain of our patient has not been reported in any of the previously described ES cases. As far as we know, our case is the first ES patient with an imperforate hymen. Haematocolpos is defined as the accumulation of menstrual blood in the vagina instead of its expulsion and this situation mostly occurs due to an imperforate hymen. The incidence of imperforate hymen as a congenital obEscobar Syndrome
Disclosure Statement The authors have no conflicts of interest to disclose.
Gynecol Obstet Invest DOI: 10.1159/000365330
3
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
Color version available online
Fig. 3. Drainage of accumulated menstrual blood after drainage of
structive abnormality of the female genital tract is 1:2,000 [1]. The strain produced on these organs due to collection of blood results in pelvic pain in the lower abdomen. Chronic pelvic pain arises from pelvic organs and is strongly associated with a reduced quality of life and depressive mood [7–9]. The establishment of diagnosis can be delayed until adolescence. It is important to keep this condition in mind in the differential diagnosis of young girls presenting with amenorrhoea and lower abdominal pain. Haematocolpos that occurs due to imperforate hymen can be easily treated but delayed diagnosis can yield devastating sequelae such as endometriosis [10]. Treatment of haematocolpos because of imperforate hymen consists of making a cruciate incision or simple incision in the hymen. Anesthetizing the ES patient constitutes a challenge and the anaesthesiologist is confronted with several problems. Due to the micrognathia, limited mouth opening, webbing of the neck and limited neck extension, airway management may be already difficult and may become more difficult as the patient grows older. Since this may be difficult due to severe limb contractures, achievement of peripheral intravenous access prior to induction of anaesthesia may be preferred [6]. Preoperative evaluation of the ES patient must be made in close cooperation and in a multidisciplinary fashion to overcome possible risks. In our patient, sedoanalgesia was applied to provide safe and satisfactory operating conditions. In conclusion, we would like to emphasize that ES patients may initially be admitted with abdominal pain attributed to gynaecological malformations such as an imperforate hymen. This further report confirms this association and we suggest that clinicians should be aware of the possibility of this particular gynaecological malformation in these patients. Early diagnosis, close collaboration with other disciplines, careful preoperative evaluation and appropriate surgical intervention without delay are key points in the management.
References
4
Gynecol Obstet Invest DOI: 10.1159/000365330
4 Aslan Y, Erduran E, Kutlu N: Autosomal recessive multiple pterygium syndrome: a new variant? Am J Med Genet 2000;93:194–197. 5 Domany E, Gilad O, Shwarz M, Vulfsons S, Garty BZ: Imperforate hymen presenting as chronic low back pain. Pediatrics 2013; 132:e768–e770. 6 Sertoz N, Gunay H, Karaman S: Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome. Paediatr Anaesth 2012;22:490–492. 7 Fenton BW, Brobeck L, Witten E, Von Gruenigen V: Chronic pelvic pain syndrome-related diagnoses in an outpatient office setting. Gynecol Obstet Invest 2012;74:64–67.
8 Grandi G, Xholli A, Ferrari S, Cannoletta M, Volpe A, Cagnacci A: Intermenstrual pelvic pain, quality of life and mood. Gynecol Obstet Invest 2013;75:97–100. 9 Guven A, Kirmizibekmez H: Multiple pterygium syndrome: mimicking the findings of Turner syndrome. J Pediatr Endocrinol Metab 2011;24:1089–1093. 10 Dodson CC, Boachie-Adjei O: Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report. HSS J 2005;1:35–39.
Mete Ural /Bayoğlu Tekın /Kir Şahın / Erdıvanli /Kazdal
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
1 Lausten-Thomsen MJ, Mogensen H: Hymen imperforatus with atypical symptom presentation. Ugeskr Laeger 2007;169:523–524. 2 Joo S, Rogers KJ, Donohoe M, King MM, Kumar SJ: Prevalence and patterns of scoliosis in children with multiple pterygium syndrome. J Pediatr Orthop 2012;32:190–195. 3 Liu DC, Tsai FJ, Chen HW, Peng CT, Tsai CH: Multiple pterygium syndrome: report of one case. Acta Paediatr Taiwan 1999;40:192– 194.
Received: April 7, 2014 Accepted after revision: June 18, 2014 Published online: September 4, 2014
Chronic Abdominal Pain in a Patient with Escobar Syndrome Ülkü Mete Ural a Yeşim Bayoğlu Tekın a Figen Kir Şahın a Başar Erdıvanli b Hızır Kazdal b Departments of aObstetrics and Gynecology and b Anesthesiology, Recep Tayyip Erdoğan University School of Medicine, Rize, Turkey
Established Facts • Multiple pterygium syndrome or Escobar syndrome is a rare autosomal recessive disorder characterized by multiple congenital joint contractures, multiple skin webs, camptodactyly with or without syndactyly, distinct facial appearance with ptosis and antimongoloid eye slant, short stature, kyphoscoliosis and vertebral segmentation anomalies.
Novel Insights • Abdominal pain due to imperforate hymen can be a part of the clinical presentation in Escobar syndrome. This situation has not been reported in any of the previously described Escobar syndrome cases. As far as we know, our case is the first Escobar syndrome patient with imperforate hymen. Careful evaluation of these patients must include a complete gynaecological assessment and, if indicated, surgical treatment must be performed without delay.
Abstract Escobar syndrome is characterized with multiple pterygia or webs of the skin and multiple congenital anomalies. We present a 15-year-old patient with Escobar syndrome who complained of persistent blunt abdominal pain for 1 year. Preoperative evaluation confirmed the diagnosis of imperfo-
© 2014 S. Karger AG, Basel 0378–7346/14/0000–0000$39.50/0 E-Mail [email protected] www.karger.com/goi
rate hymen, and the patient underwent hymenectomy under intravenous sedation. The patient’s postoperative course was uneventful and her complaints resolved completely. After a 3-month follow-up, she reported having normal menstrual bleeding intervals each month without any complications. Patients with Escobar syndrome may suffer from abdominal pain due to imperforate hymen. Careful evaluation of these patients must include a complete gynaecological assessment and, if indicated, surgical treatment must be performed without delay. © 2014 S. Karger AG, Basel
Ülkü Mete Ural, MD Department of Obstetrics and Gynecology Recep Tayyip Erdoğan University School of Medicine İslampaşa Mah., TR–53100 Rize (Turkey) E-Mail ulkumete2004 @ yahoo.com
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
Key Words Escobar syndrome · Multiple pterygium syndrome · Imperforate hymen · Abdominal pain
Color version available online
Introduction
Multiple pterygium syndrome (MPS) is a rare condition characterized with multiple pterygia and joint contractures [1]. There are two forms of MPS: the Escobar type is a rare autosomal recessive disorder and is the milder of the two types. Lethal MPS is associated with stillbirth [2]. In this case report, we describe a 15-year-old female infant with Escobar syndrome (ES) presenting with abdominal pain of unknown aetiology. On physical examination and radiological evaluation, a diagnosis of imperforate hymen was confirmed. As far as we know, our case is unique since imperforate hymen has not been reported in ES yet.
Fig. 1. Anomalies involving the craniofacial region, hand and fin-
Case Report
gers.
2
Gynecol Obstet Invest DOI: 10.1159/000365330
Fig. 2. MRI (T2A), sagittal plan, normal uterus and the mass of haematocolpos.
Discussion
MPS is a rare, autosomal recessive disorder characterized by multiple congenital joint contractures, multiple skin webs, camptodactyly with or without syndactyly, distinct facial appearance with ptosis and antimongoloid Mete Ural /Bayoğlu Tekın /Kir Şahın / Erdıvanli /Kazdal
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
A 15-year-old female complaining of abdominal pain was admitted to the outpatient clinic of the obstetrics and gynaecology department of our tertiary care centre. On physical examination, she presented with multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints. There were striking craniofacial defects including ectropion, blepharophimosis, hypoplastic nose and oral cavities, micrognathia, absence of eyebrows and eyelashes, alopecia, asymmetric and widely spaced nipples and hypoplastic labia majora were also noted. There were flexion contractures of the elbow and knee joints and arthrogryposis at the knee and hip joints. Complete syndactyly with fusion of all digits on the hands and feet, bilateral pes equinovarus deformities, and a band-like web connecting the both feet were present. Finger and toenail, phalangeal and palmar creases were absent (fig. 1). She was diagnosed with ES soon after birth and underwent multiple surgical procedures for pterygia or webbing, orolabial synechia and anal stenosis. Her chief complaint for admittance to our hospital was lower abdominal pain that had lasted for 1 year. There was a history of cyclical abdominal pain that exacerbated for 5 months. The patient had not started her menses yet. Abdominal examination revealed a palpable fullness and tenderness of the pelvic region. In pelvic examination the hymen was found to be imperforate. The uterus and bilateral ovaries were normal. Abdominal magnetic resonance imaging (MRI) showed a 95 × 76 mm hyperintense unilocular cystic mass behind the bladder suggestive of haematocolpos (fig. 2). All laboratory tests, CA-125 and CA-19.9 levels were normal. The patient was preoperatively evaluated by an anaesthesiologist. The mental state of the patient was normal and communication could readily be established with her before and after the intervention. Informed consent had been obtained from the patient. She underwent surgical procedure for hymenotomy by elliptical incision with electrocautery. The edges were everted. Around 1,000 ml of dark, red, tarry blood was drained (fig. 3). The postoperative period was uneventful and during the 3-month follow-up she was asymptomatic and had two normal menstrual cycles. Her pelvic ultrasonography was normal.
haematocolpos.
eye slant, short stature, kyphoscoliosis, and vertebral segmentation anomalies [3]. The incidence of all forms of pterygium syndrome is uncertain and they are mostly non-specifically termed as arthrogryposis. The vast majority of previous publications on this entity are individual case reports [2–5]. The syndrome is characterized by flexion contractures. Cleft palate, deafness, short stature, and scoliosis are frequently present as well. The disease process is progressive, with about 20% developing decreased pulmonary capacity and increasing spinal deformity [5]. Affected individuals typically do not have muscle weakness later in life [6]. In cases with ES, genitourinary system involvement has been reported in addition to the typical features mentioned above. Males may have a small penis and scrotum and cryptorchidism, while aplasia of the labia majora and small clitoris may be encountered in females. Hypoplasia of labia majora has been described in ES patients before. However, an imperforate hymen that was supposed to result in the abdominal pain of our patient has not been reported in any of the previously described ES cases. As far as we know, our case is the first ES patient with an imperforate hymen. Haematocolpos is defined as the accumulation of menstrual blood in the vagina instead of its expulsion and this situation mostly occurs due to an imperforate hymen. The incidence of imperforate hymen as a congenital obEscobar Syndrome
Disclosure Statement The authors have no conflicts of interest to disclose.
Gynecol Obstet Invest DOI: 10.1159/000365330
3
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
Color version available online
Fig. 3. Drainage of accumulated menstrual blood after drainage of
structive abnormality of the female genital tract is 1:2,000 [1]. The strain produced on these organs due to collection of blood results in pelvic pain in the lower abdomen. Chronic pelvic pain arises from pelvic organs and is strongly associated with a reduced quality of life and depressive mood [7–9]. The establishment of diagnosis can be delayed until adolescence. It is important to keep this condition in mind in the differential diagnosis of young girls presenting with amenorrhoea and lower abdominal pain. Haematocolpos that occurs due to imperforate hymen can be easily treated but delayed diagnosis can yield devastating sequelae such as endometriosis [10]. Treatment of haematocolpos because of imperforate hymen consists of making a cruciate incision or simple incision in the hymen. Anesthetizing the ES patient constitutes a challenge and the anaesthesiologist is confronted with several problems. Due to the micrognathia, limited mouth opening, webbing of the neck and limited neck extension, airway management may be already difficult and may become more difficult as the patient grows older. Since this may be difficult due to severe limb contractures, achievement of peripheral intravenous access prior to induction of anaesthesia may be preferred [6]. Preoperative evaluation of the ES patient must be made in close cooperation and in a multidisciplinary fashion to overcome possible risks. In our patient, sedoanalgesia was applied to provide safe and satisfactory operating conditions. In conclusion, we would like to emphasize that ES patients may initially be admitted with abdominal pain attributed to gynaecological malformations such as an imperforate hymen. This further report confirms this association and we suggest that clinicians should be aware of the possibility of this particular gynaecological malformation in these patients. Early diagnosis, close collaboration with other disciplines, careful preoperative evaluation and appropriate surgical intervention without delay are key points in the management.
References
4
Gynecol Obstet Invest DOI: 10.1159/000365330
4 Aslan Y, Erduran E, Kutlu N: Autosomal recessive multiple pterygium syndrome: a new variant? Am J Med Genet 2000;93:194–197. 5 Domany E, Gilad O, Shwarz M, Vulfsons S, Garty BZ: Imperforate hymen presenting as chronic low back pain. Pediatrics 2013; 132:e768–e770. 6 Sertoz N, Gunay H, Karaman S: Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome. Paediatr Anaesth 2012;22:490–492. 7 Fenton BW, Brobeck L, Witten E, Von Gruenigen V: Chronic pelvic pain syndrome-related diagnoses in an outpatient office setting. Gynecol Obstet Invest 2012;74:64–67.
8 Grandi G, Xholli A, Ferrari S, Cannoletta M, Volpe A, Cagnacci A: Intermenstrual pelvic pain, quality of life and mood. Gynecol Obstet Invest 2013;75:97–100. 9 Guven A, Kirmizibekmez H: Multiple pterygium syndrome: mimicking the findings of Turner syndrome. J Pediatr Endocrinol Metab 2011;24:1089–1093. 10 Dodson CC, Boachie-Adjei O: Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report. HSS J 2005;1:35–39.
Mete Ural /Bayoğlu Tekın /Kir Şahın / Erdıvanli /Kazdal
Downloaded by: Gazi Üniversitesi 194.27.18.18 - 1/9/2015 7:15:20 PM
1 Lausten-Thomsen MJ, Mogensen H: Hymen imperforatus with atypical symptom presentation. Ugeskr Laeger 2007;169:523–524. 2 Joo S, Rogers KJ, Donohoe M, King MM, Kumar SJ: Prevalence and patterns of scoliosis in children with multiple pterygium syndrome. J Pediatr Orthop 2012;32:190–195. 3 Liu DC, Tsai FJ, Chen HW, Peng CT, Tsai CH: Multiple pterygium syndrome: report of one case. Acta Paediatr Taiwan 1999;40:192– 194.
