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Poland syndrome with Mullerian agenesis: a rare occurrence
European Journal of Obstetrics & Gynecology and Reproductive Biology 161 (2012) 232–235
Contents lists available at SciVerse ScienceDirect
European Journal of Obstetrics & Gynecology and Reproductive Biology journal homepage: www.elsevier.com/locate/ejogrb
LETTERS TO THE EDITOR—BRIEF COMMUNICATION Poland syndrome with Mullerian agenesis: a rare occurrence
Dear Editors, A young girl, 20 years old, presented with complaints of unequal breast development, primary amenorrhea and deformity of the right hand. She had no history of cyclical abdominal pain, nipple discharge, other limb deformities, or visual or hearing problems. Her mother and two sisters were normal and had attained normal menses. On examination her height was 157.5 cm and weight 55 kg. The chest was asymmetrical with depression in the bony cage on the right upper side, indicating absent pectoralis major muscle, and with an underdeveloped right breast, but there was no bony involvement. Claw hand deformity was present in the right hand (Fig. 1). Dorsally the right scapula was less prominent than the left. Axillary hair was also absent on the right side. On auscultation the apex beat was present in the 5th right intercostal space. Examination of the eyes, ears, nose, facial symmetry, palate, and dentition was normal. Pubic hair was Tanner’s stage 3 and external genitalia were normal. There was a blind vagina 3 cm in length and rectal examination revealed that the uterus was absent. X-ray chest showed scoliosis, thinning of the anterior ends of the right 1st–3rd ribs and dextrocardia (Fig. 2). X-ray of the right hand showed flexion deformity of the right 1st metacarpophalangeal joint and 2nd–5th interphalangeal joints, and soft tissue atrophy but no bony fusion (Fig. 3a,b). Pelvic ultrasound revealed that the uterus was absent and the ovaries were normal. A diagnosis of Poland syndrome with Mullerian agenesis (Mayer Rokitansky Kustner Hauser syndrome) was made. The patient was counselled, referred to a surgeon for reconstructive surgery and since the blind vagina was distensible she was advised on graduated dilatation with a mould. Poland’s syndrome occurs in approximately 1/30,000 live births [1]. It is primarily characterized by partial or total aplasia of the greater pectoral muscle and the ipsilateral breast or nipple [2]. Associated clinical anomalies are predominantly musculoskeletal,
Fig. 1. Bony deformity of the thorax with right claw hand; underdeveloped right breast. 0301-2115/$ – see front matter ß 2011 Elsevier Ireland Ltd. All rights reserved.
such as hypoplastic rib, pectus excavatum, scoliosis, ipsilateral upper extremity anomalies, and syndactyly. Other abnormalities include neurologic, otologic, genitourinary, gastrointestinal, cardiovascular abnormalities such as dextrocardia, hematologic anomalies, deformities of the external ear, renal agenesis, hypoplasia, ureteral reflux and diaphragmatic hernia [3]. The patient in the present case fulfilled both the major and the minor criteria. The defect is essentially unilateral and right-sided, as seen in this case [4]. The etiology of this syndrome is unknown and it has been hypothesized to be caused by a vascular malformation. It has been suggested that it is due to interruption of the early embryonic blood supply caused by hypoplasia of the ipsilateral subclavian artery or the vertebral arteries and their branches and that the occlusions occur at specific locations in these vessels during or around the 6th week of embryonic development [5]. There is no clear etiological link between the two coexisting conditions, but it can be hypothesized that similar interruption or dysgenesis in the pelvic vasculature may be responsible for Mullerian agenesis. Apart from one case of premature ovarian failure reported with this syndrome [6], this is the first reported case of Poland’s syndrome associated with Mullerian agenesis. This link may be coincidental but such co-existent anomalies need to be published so that the entire spectrum of anomalies is understood better.
Fig. 2. X-ray of the chest showing scoliosis, absent/thinning of anterior ends of right 1st–3rd ribs and dextrocardia.
Letters to the Editor / European Journal of Obstetrics & Gynecology and Reproductive Biology 161 (2012) 232–235
233
Fig. 3. (a and b) Flexion deformity of right 1st metacarpophalangeal joint and 2nd to 5th interphalangeal joints, soft tissue atrophy, no bony fusion.
References [1] Shamberger RC, Welch KJ, Upton III J. Surgical treatment of thoracic deformity in Poland’s syndrome. J Pediatr Surg 1989;24:760–5. [2] Velez A, Moreno JC. Poland’s syndrome and recessive X linked ichthyosis in two brothers. Clin Exp Dermatol 2000;25:308. [3] Wilson MR, Louis DS, Stevenson TR. Poland’s syndrome: variable expression and associated anomalies. J Hand Surg 1988;13A:880. [4] Shipkov CD, Anastassov YK. Bilateral Poland anomaly: does it exist? Am J Med Genet 2003;118(1):101. [5] Fabian MC, Fischer JD. A variant of Poland’s syndrome. Can J Surg 1994;37:67. [6] Derman O, Gold MA. Poland’s syndrome and premature ovarian failure. J Pediatr Adolesc Gynecol 2004;17:389–92.
Shalini Rajaram Sumita Mehta Bindiya Gupta* Department of Obstetrics and Gynecology, University college of medical sciences and Guru Teg Bahadur hospital, Dilshad Garden, Delhi, India Vineeta Rathi Department of Radiology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Dilshad Garden, Delhi, India Neerja Goel Department of Obstetrics and Gynecology, India *Corresponding author at: Department of Obstetrics and Gynecology, University College of Medical Sciences and Guru Teg Bahadur, Hospital, Dilshad Garden, Delhi, India. Tel.: +91 9868399622 E-mail address: [email protected] (B. Gupta) 22 July 2011 doi:10.1016/j.ejogrb.2011.12.010
Uterine necrosis and pyometra following surgical hemostatic Cho suture for postpartum haemorrhage: two cases
Dear Editor, We report two cases of uterine necrosis and pyometra after surgical haemostatic Cho suture for postpartum haemorrhage. A healthy 23-year-old primipara presented with severe postpartum haemorrhage immediately after a uterine inversion following vaginal delivery at 41 weeks. The pregnancy had been normal with no history of clinical intraamniotic infection. No satisfactory response was obtained after manual repositioning of the uterus and medical treatment by intravenous oxytocin and sulprostone. The patient therefore underwent surgery with bilateral uterine artery ligation and Cho compressive uterine sutures. Haemostasis was obtained after these procedures. In the post-operative period she made a good recovery but was treated by amoxicillin and clavulanic acid for pyrexia, an elevated C reactive protein and leucocytosis. Eleven days after her vaginal delivery, she developed a febrile bowel obstruction syndrome. A CT scan showed a very large uterus with diffuse gas bubbles in the uterine cavity and dilated intestinal loops consistent with uterine necrosis and pyometra (Fig. 1). The decision was made to perform an exploratory laparotomy, which showed a diffuse purulent peritonitis and a soft, grayish uterus which was distended between the compression sutures. An abdominal subtotal hysterectomy was performed. Blood cultures were found to be positive for Escherichia coli. The patient was then treated with adapted antibiotherapy. She made a good recovery and was discharged twelve days after the surgery. Another patient, a healthy 27-year-old primipara, presented at 39 weeks with a probable chorioamnionitis involving maternal
Contents lists available at SciVerse ScienceDirect
European Journal of Obstetrics & Gynecology and Reproductive Biology journal homepage: www.elsevier.com/locate/ejogrb
LETTERS TO THE EDITOR—BRIEF COMMUNICATION Poland syndrome with Mullerian agenesis: a rare occurrence
Dear Editors, A young girl, 20 years old, presented with complaints of unequal breast development, primary amenorrhea and deformity of the right hand. She had no history of cyclical abdominal pain, nipple discharge, other limb deformities, or visual or hearing problems. Her mother and two sisters were normal and had attained normal menses. On examination her height was 157.5 cm and weight 55 kg. The chest was asymmetrical with depression in the bony cage on the right upper side, indicating absent pectoralis major muscle, and with an underdeveloped right breast, but there was no bony involvement. Claw hand deformity was present in the right hand (Fig. 1). Dorsally the right scapula was less prominent than the left. Axillary hair was also absent on the right side. On auscultation the apex beat was present in the 5th right intercostal space. Examination of the eyes, ears, nose, facial symmetry, palate, and dentition was normal. Pubic hair was Tanner’s stage 3 and external genitalia were normal. There was a blind vagina 3 cm in length and rectal examination revealed that the uterus was absent. X-ray chest showed scoliosis, thinning of the anterior ends of the right 1st–3rd ribs and dextrocardia (Fig. 2). X-ray of the right hand showed flexion deformity of the right 1st metacarpophalangeal joint and 2nd–5th interphalangeal joints, and soft tissue atrophy but no bony fusion (Fig. 3a,b). Pelvic ultrasound revealed that the uterus was absent and the ovaries were normal. A diagnosis of Poland syndrome with Mullerian agenesis (Mayer Rokitansky Kustner Hauser syndrome) was made. The patient was counselled, referred to a surgeon for reconstructive surgery and since the blind vagina was distensible she was advised on graduated dilatation with a mould. Poland’s syndrome occurs in approximately 1/30,000 live births [1]. It is primarily characterized by partial or total aplasia of the greater pectoral muscle and the ipsilateral breast or nipple [2]. Associated clinical anomalies are predominantly musculoskeletal,
Fig. 1. Bony deformity of the thorax with right claw hand; underdeveloped right breast. 0301-2115/$ – see front matter ß 2011 Elsevier Ireland Ltd. All rights reserved.
such as hypoplastic rib, pectus excavatum, scoliosis, ipsilateral upper extremity anomalies, and syndactyly. Other abnormalities include neurologic, otologic, genitourinary, gastrointestinal, cardiovascular abnormalities such as dextrocardia, hematologic anomalies, deformities of the external ear, renal agenesis, hypoplasia, ureteral reflux and diaphragmatic hernia [3]. The patient in the present case fulfilled both the major and the minor criteria. The defect is essentially unilateral and right-sided, as seen in this case [4]. The etiology of this syndrome is unknown and it has been hypothesized to be caused by a vascular malformation. It has been suggested that it is due to interruption of the early embryonic blood supply caused by hypoplasia of the ipsilateral subclavian artery or the vertebral arteries and their branches and that the occlusions occur at specific locations in these vessels during or around the 6th week of embryonic development [5]. There is no clear etiological link between the two coexisting conditions, but it can be hypothesized that similar interruption or dysgenesis in the pelvic vasculature may be responsible for Mullerian agenesis. Apart from one case of premature ovarian failure reported with this syndrome [6], this is the first reported case of Poland’s syndrome associated with Mullerian agenesis. This link may be coincidental but such co-existent anomalies need to be published so that the entire spectrum of anomalies is understood better.
Fig. 2. X-ray of the chest showing scoliosis, absent/thinning of anterior ends of right 1st–3rd ribs and dextrocardia.
Letters to the Editor / European Journal of Obstetrics & Gynecology and Reproductive Biology 161 (2012) 232–235
233
Fig. 3. (a and b) Flexion deformity of right 1st metacarpophalangeal joint and 2nd to 5th interphalangeal joints, soft tissue atrophy, no bony fusion.
References [1] Shamberger RC, Welch KJ, Upton III J. Surgical treatment of thoracic deformity in Poland’s syndrome. J Pediatr Surg 1989;24:760–5. [2] Velez A, Moreno JC. Poland’s syndrome and recessive X linked ichthyosis in two brothers. Clin Exp Dermatol 2000;25:308. [3] Wilson MR, Louis DS, Stevenson TR. Poland’s syndrome: variable expression and associated anomalies. J Hand Surg 1988;13A:880. [4] Shipkov CD, Anastassov YK. Bilateral Poland anomaly: does it exist? Am J Med Genet 2003;118(1):101. [5] Fabian MC, Fischer JD. A variant of Poland’s syndrome. Can J Surg 1994;37:67. [6] Derman O, Gold MA. Poland’s syndrome and premature ovarian failure. J Pediatr Adolesc Gynecol 2004;17:389–92.
Shalini Rajaram Sumita Mehta Bindiya Gupta* Department of Obstetrics and Gynecology, University college of medical sciences and Guru Teg Bahadur hospital, Dilshad Garden, Delhi, India Vineeta Rathi Department of Radiology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Dilshad Garden, Delhi, India Neerja Goel Department of Obstetrics and Gynecology, India *Corresponding author at: Department of Obstetrics and Gynecology, University College of Medical Sciences and Guru Teg Bahadur, Hospital, Dilshad Garden, Delhi, India. Tel.: +91 9868399622 E-mail address: [email protected] (B. Gupta) 22 July 2011 doi:10.1016/j.ejogrb.2011.12.010
Uterine necrosis and pyometra following surgical hemostatic Cho suture for postpartum haemorrhage: two cases
Dear Editor, We report two cases of uterine necrosis and pyometra after surgical haemostatic Cho suture for postpartum haemorrhage. A healthy 23-year-old primipara presented with severe postpartum haemorrhage immediately after a uterine inversion following vaginal delivery at 41 weeks. The pregnancy had been normal with no history of clinical intraamniotic infection. No satisfactory response was obtained after manual repositioning of the uterus and medical treatment by intravenous oxytocin and sulprostone. The patient therefore underwent surgery with bilateral uterine artery ligation and Cho compressive uterine sutures. Haemostasis was obtained after these procedures. In the post-operative period she made a good recovery but was treated by amoxicillin and clavulanic acid for pyrexia, an elevated C reactive protein and leucocytosis. Eleven days after her vaginal delivery, she developed a febrile bowel obstruction syndrome. A CT scan showed a very large uterus with diffuse gas bubbles in the uterine cavity and dilated intestinal loops consistent with uterine necrosis and pyometra (Fig. 1). The decision was made to perform an exploratory laparotomy, which showed a diffuse purulent peritonitis and a soft, grayish uterus which was distended between the compression sutures. An abdominal subtotal hysterectomy was performed. Blood cultures were found to be positive for Escherichia coli. The patient was then treated with adapted antibiotherapy. She made a good recovery and was discharged twelve days after the surgery. Another patient, a healthy 27-year-old primipara, presented at 39 weeks with a probable chorioamnionitis involving maternal