- Email: [email protected]
Poster presentations
146
Abstracts: Poster Presentations
equate communication about birth control and STD’s was associated with poor outcomes including pregnancy and STD’s. PII S1083-3188(01)00119-X
POSTER PRESENTATIONS
TETRALOGY OF FALLOT, IMPERFORATE ANUS, MULLERIAN, RENAL, AND CERVICAL SPINE (MURCS) ANOMALIES IN A 15 YEAR OLD GIRL Melissa Gilliam, MD, MPH, Lee Shulman, MD, Antonio Scommegna, MD, University of Illinois at Chicago, Chicago, IL BACKGROUND: Our patient is a 15-year-old AfricanAmerican female with Tetrology of Fallot, imperforate anus, anomalous ureters, mullerian anomaly and fusion of cervical spine vertebra. METHODS: Case report, review of the literature. RESULTS: DM is a 15yo African American with a history of Tetrology of Fallot, imperforate anus and anomalous ureters, all of which were repaired in infancy. She presents to the UIC Pediatric and Adolescent Service with primary amenorrhea and cyclical abdominal pain. Office evaluation reveals a healthy young woman without phenotypic abnormalities and an apparently normal secondary sexual development. However, gynecologic exam demonstrates a shortened vagina without a bulging hymen. Magnetic resonance imaging reveals uterus didelphus, with uterine cervical anatomy not able to be delineated. Ultrasound reveals a cyst in the right ovary consistent with a corpus luteum; there is no evidence of a fluid collection in either horn of the uterus. Vaginoscopy reveals a blind vaginal pouch with no visible cervix. Spinal x-rays reveal partial fusion of the cervical spine at C2-3. Chromosomal analysis and molecular evaluation for fragile X show a normal karyotype (46,XX) with a normal, non-carrier FraX region. Endocrinologic studies were obtained: FSH 1.3, LH 3.0, prolactin 6, and estradiol of 85.2. A progesterone challenge was done but did not result in a withdrawal bleed. The patient was started on a GnRH agonist regimen for suppression of putative endometriosis, which is thought to be the source of her pain. Exploratory laparoscopy and possible hysterectomy will be offered in the near future. CONCLUSION: MURCS (Mullerian, Renal, Cervical Spine) is a well-described grouping of multi-organic, nonlethal abnormalities that are infrequently detected in women with menstrual abnormalities. Such women are usually characterized by normal chromosome complements and the absence of other malformations. However, the aforementioned constellation of anomalies has not been previously described in the literature. The association of MURCS with cardiac and anorectal abnormalities may be one of coincidence or may indicate that the abnormalities share common genetic or environmental (cellular or microbiologic) etiologies. Further studies and reports are needed to determine the potential etiological and clinical impact of our report. PII S1083-3188(01)00094-8
ROLE OF MEDICAL-GENETIC CONSULTATIONS IN EARLY DIAGNOSTICS OF OVARIAN TUMORS IN GIRLS A. Peresunko, Bukovinian State Medical Academy, Chernivtsy, Ukraine First of all in our research we made clinic-genealogical analysis of 21 girls who were operated on ovarian tumors. The clinic-genealogical investigation resulted in interesting data: in 14 out of 21 genealogies there were cases of ovarian cancer of mammary gland and uterus in relatives (a mother, a sister, a grandmother). Those 14 girls primordially had a high genetic risk to be taken ill with tumors of the reproductive sphere. Working out the problem of active diagnostics of ovarian tumors in girls, we made genealogical analysis of 520 probands - women diseased with ovarian cancer. Among their relatives 34 girls were chosen (the first stage of relationship) aged from 8 to 17 years who had never been examined by gynecologist before. They underwent the following examination: ultrasound diagnostics of the organs in minor pelvis and rectal-abdominal examination of necessity. This screening program allowed to find out for the first time ovarian cysts (1 teratoma, 2 cystomas) in 3 girls. While giving effective preventive help to children with the risk of malignant tumor neoplasm we consider the following measures are necessary to be taken: • •
to organize dispensary contingent of persons with high genetic risk of cancer development; to arrange clinical monitoring of their state of health.
PII S1083-3188(01)00095-X
TORSION OF A MECKEL DIVERTICULUM ASSOCIATED WITH INTERNAL HERNIATION AND SMALL BOWEL OBSTRUCTION AS A CAUSE OF RIGHT LOWER QUADRANT PAIN IN A 12 YR. OLD GIRL Robert M Cavanaugh, Jr, MD, Linda A Nicolette, MD, Matthew C Becker, BS, Department of Pediatrics and Pediatric Surgery, SUNY Upstate Medical University, Syracuse, NY BACKGROUND: A number of complications have been described in adolescent girls who have a Meckel diverticulum. Painless rectal bleeding is the most common manifestation during the first two decades of life. Inflammation with diverticulitis may simulate acute appendicitis and lead to perforation with peritonitis. In addition, partial or complete bowel obstruction may occur when the diverticulum serves as the lead point of an intussusception. Intraperitoneal bands may also cause obstruction by internal herniation or volvulus of the small bowel around the band. The purpose of this paper is to heighten awareness among clinicians that torsion of a Meckel diverticulum and internal herniation with small bowel obstruction may present with intermittent right lower quadrant pain in adolescent girls. METHODS: A 12 year old girl was seen in consultation for evaluation of abdominal pain of two weeks duration. The pain was initially intermittent, but then became continuous shortly before she was evaluated at our center. The patient
Abstracts: Poster Presentations
equate communication about birth control and STD’s was associated with poor outcomes including pregnancy and STD’s. PII S1083-3188(01)00119-X
POSTER PRESENTATIONS
TETRALOGY OF FALLOT, IMPERFORATE ANUS, MULLERIAN, RENAL, AND CERVICAL SPINE (MURCS) ANOMALIES IN A 15 YEAR OLD GIRL Melissa Gilliam, MD, MPH, Lee Shulman, MD, Antonio Scommegna, MD, University of Illinois at Chicago, Chicago, IL BACKGROUND: Our patient is a 15-year-old AfricanAmerican female with Tetrology of Fallot, imperforate anus, anomalous ureters, mullerian anomaly and fusion of cervical spine vertebra. METHODS: Case report, review of the literature. RESULTS: DM is a 15yo African American with a history of Tetrology of Fallot, imperforate anus and anomalous ureters, all of which were repaired in infancy. She presents to the UIC Pediatric and Adolescent Service with primary amenorrhea and cyclical abdominal pain. Office evaluation reveals a healthy young woman without phenotypic abnormalities and an apparently normal secondary sexual development. However, gynecologic exam demonstrates a shortened vagina without a bulging hymen. Magnetic resonance imaging reveals uterus didelphus, with uterine cervical anatomy not able to be delineated. Ultrasound reveals a cyst in the right ovary consistent with a corpus luteum; there is no evidence of a fluid collection in either horn of the uterus. Vaginoscopy reveals a blind vaginal pouch with no visible cervix. Spinal x-rays reveal partial fusion of the cervical spine at C2-3. Chromosomal analysis and molecular evaluation for fragile X show a normal karyotype (46,XX) with a normal, non-carrier FraX region. Endocrinologic studies were obtained: FSH 1.3, LH 3.0, prolactin 6, and estradiol of 85.2. A progesterone challenge was done but did not result in a withdrawal bleed. The patient was started on a GnRH agonist regimen for suppression of putative endometriosis, which is thought to be the source of her pain. Exploratory laparoscopy and possible hysterectomy will be offered in the near future. CONCLUSION: MURCS (Mullerian, Renal, Cervical Spine) is a well-described grouping of multi-organic, nonlethal abnormalities that are infrequently detected in women with menstrual abnormalities. Such women are usually characterized by normal chromosome complements and the absence of other malformations. However, the aforementioned constellation of anomalies has not been previously described in the literature. The association of MURCS with cardiac and anorectal abnormalities may be one of coincidence or may indicate that the abnormalities share common genetic or environmental (cellular or microbiologic) etiologies. Further studies and reports are needed to determine the potential etiological and clinical impact of our report. PII S1083-3188(01)00094-8
ROLE OF MEDICAL-GENETIC CONSULTATIONS IN EARLY DIAGNOSTICS OF OVARIAN TUMORS IN GIRLS A. Peresunko, Bukovinian State Medical Academy, Chernivtsy, Ukraine First of all in our research we made clinic-genealogical analysis of 21 girls who were operated on ovarian tumors. The clinic-genealogical investigation resulted in interesting data: in 14 out of 21 genealogies there were cases of ovarian cancer of mammary gland and uterus in relatives (a mother, a sister, a grandmother). Those 14 girls primordially had a high genetic risk to be taken ill with tumors of the reproductive sphere. Working out the problem of active diagnostics of ovarian tumors in girls, we made genealogical analysis of 520 probands - women diseased with ovarian cancer. Among their relatives 34 girls were chosen (the first stage of relationship) aged from 8 to 17 years who had never been examined by gynecologist before. They underwent the following examination: ultrasound diagnostics of the organs in minor pelvis and rectal-abdominal examination of necessity. This screening program allowed to find out for the first time ovarian cysts (1 teratoma, 2 cystomas) in 3 girls. While giving effective preventive help to children with the risk of malignant tumor neoplasm we consider the following measures are necessary to be taken: • •
to organize dispensary contingent of persons with high genetic risk of cancer development; to arrange clinical monitoring of their state of health.
PII S1083-3188(01)00095-X
TORSION OF A MECKEL DIVERTICULUM ASSOCIATED WITH INTERNAL HERNIATION AND SMALL BOWEL OBSTRUCTION AS A CAUSE OF RIGHT LOWER QUADRANT PAIN IN A 12 YR. OLD GIRL Robert M Cavanaugh, Jr, MD, Linda A Nicolette, MD, Matthew C Becker, BS, Department of Pediatrics and Pediatric Surgery, SUNY Upstate Medical University, Syracuse, NY BACKGROUND: A number of complications have been described in adolescent girls who have a Meckel diverticulum. Painless rectal bleeding is the most common manifestation during the first two decades of life. Inflammation with diverticulitis may simulate acute appendicitis and lead to perforation with peritonitis. In addition, partial or complete bowel obstruction may occur when the diverticulum serves as the lead point of an intussusception. Intraperitoneal bands may also cause obstruction by internal herniation or volvulus of the small bowel around the band. The purpose of this paper is to heighten awareness among clinicians that torsion of a Meckel diverticulum and internal herniation with small bowel obstruction may present with intermittent right lower quadrant pain in adolescent girls. METHODS: A 12 year old girl was seen in consultation for evaluation of abdominal pain of two weeks duration. The pain was initially intermittent, but then became continuous shortly before she was evaluated at our center. The patient