See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/233363957 Limb Body Wall Complex - case presentation and literature review Article in Romanian Journal of Legal Medicine · June 2009 DOI: 10.4323/rjlm.2009.133 CITATIONS READS 8 255 5 authors , including: Demetra Socolov Cristina Terinte Universitatea de Medicina si Farmacie Grigore T. Popa Iasi Regional Institute of Oncology, Iasi 109 PUBLICATIONS 543 CITATIONS 8 PUBLICATIONS 19 CITATIONS SEE PROFILE SEE PROFILE Eusebiu Vlad Gorduza Razvan Socolov Universitatea de Medicina si Farmacie Grigore T. Popa Iasi Universitatea de Medicina si Farmacie Grigore T. Popa Iasi 68 PUBLICATIONS 141 CITATIONS 69 PUBLICATIONS 344 CITATIONS SEE PROFILE SEE PROFILE Some of the authors of this publication are also working on these related projects: NutriGen View project Nutrigen View project All content following this page was uploaded by Eusebiu Vlad Gorduza on 10 March 2015. The user has requested enhancement of the downloaded file.
Limb Body Wall Complex - A Case presentation and review of literature Demetra Socolov 1 *, Cristina Terinte 2 *, Vlad Gorduza 1 *, Razvan Socolov 1 *, Maria Puiu 3§ Address: 1- University of Medicine and Pharmacy Gr. T. Popa, 16 Universitatii Street, Iasi- Romania 2- Hospital of Obstetrics and Gynecology Cuza Voda, Pathology Dept., 34 Cuza Voda street, Iasi- Romania 3- University of Medicine and Pharmacy Victor Babes, Piata E. Murgu 2, Timisoara- Romania *These authors contributed equally to this work § Corresponding author Email addresses: DS: socolov@hotmail.com CT: cterinte@gmail.com VG: vgord@mail.com RS: razvan.socolov@yahoo.com MP: maria_puiu@umft.ro 1
Abstract Background Limb Body Wall Complex (LBWC) is a combination of development abnormalities involving the neural tube, body wall and the limbs. There are few cases in literature, and our case is only the 2 nd presented from Romania. Case presentation The patient was a 31 year-old women G1P0A0 with a 33 week pregnancy which had no prenatal care. The ultrasound scan described several abnormalities, including: large abdominal wall defect, with difficult to identify pelvic organs and ambiguous genitalia; enlarged stomach with suspicion of intestinal atresia; scoliosis and spida bifida occulta with bilateral ventriculomegalia; one inferior limb absent; short umbilical cord with single artery. After therapeutic termination of pregnancy, the abnormalities were confirmed and polycystic liver and kidneys were also mentioned. Also bilateral cardiac ventriculomegalia, left superior pulmonary lobe hemorrhage, imperforated anus and pancreas agenesia were identified. No abnormalities were found at chromosomal examination - 46,XY. Conclusion The case presented here is a placento-caudal phenotype of a LBWC syndrome, which had as a special element the polycystic kidney and hepatic disease. The description of plurimalformative features in our case is important to better understanding of pathogenesis of disease. Background Limb Body Wall Complex (LBWC) is a fetal malformative syndrome which consists of neural tub defects, body wall disruption and limb abnormalities. The diagnosis is confirmed by presence of at least two of the above features. The authors report a case of LBWC diagnosed in the late antenatal period. It is the 2-nd case recorded in Romania [1]. The particularity of this case consists in the association of the LBWC malformations with the polycystic disease of the liver and kidneys, not reported before, to our knowledge. Case presentation A 31 year-old woman was referred for a 3-rd level antenatal ultrasnography because of a plurimalformative syndrome. She was G1P0A0 at the time of scanning. Her history showed no consanguineous marriage, as well as no toxic or chronic medication exposure. She was not followed-up during the pregnancy before the 33-rd week of gestation, living abroad without health insurance. The TORCH analysis was negative. The first ultrasound scan was performed at 34 weeks, when multiple abnormalities were detected. The ultrasound report showed a fetus with a chronological gestational age of 33 weeks (based on the last menstrual period) and an estimate gestational age based on biometry of 36 weeks and 5 days (using BPD, HC, FL). The scan also revealed a large abdominal wall defect through which the abdominal contents herniated into the extra 2
embryonic celom. The protruded organs formed a complex with bizarre appearing and entangled with membranes. The diaphragm was intact. There was evidence that suggest bowel atresia, with a large and dilated stomach. The kidneys and the urinary bladder were not seen, suggesting a renal agenesia, not confirmed by the autopsy. The external genitalia was ambiguous and the pelvic organs were unrecognizable. There was evidence of scoliosis and spina bifida occulta with direct signs (incomplete vertebral arches) and indirect signs (a 14.6 mm cerebral ventriculomegalia, involving the both lateral ventricles, with the cerebellum compressed against the occipital bone – “the banana sign”). While the fetal head diameter was greater than the gestational age, the thoracic and abdominal diameters were reduced. No anomalies were seen at the fetal eyes, facial profile, palate, lips, neck. The cardiac examination was difficult, suggesting an AV channel (with DSV, DSA and single AV valve) which was not confirmed at the necropsy. The superior limbs were normal. The inferior left limb presented club foot, while the right inferior limb was completely absent. The placenta was fundal, showing a 2-nd degree of maturation (Granum classification). The color flow doppler showed evidence of a single umbilical artery with a short umbilical cord, and it also clearly designated the abdominal feto-placental attachment. A provisional diagnosis of LBWC was made based on the ultrasound description. The patient was informed of the poor prognosis and after counselling she accepted the termination of the pregnancy. This was performed with prostaglandin intracervical induction (200 mg x 3 doses, at 4 hour interval). At 23 hours from the onset of the procedure, the patient delivered a still-born fetus of 3000 g. The necropsy report confirmed the diagnosis of LBWC. The anatomical examination of the fetus revealed many pathologic features. The abdominal content herniates by a large abdominal wall defect, with exteriorization of the liver, small and large bowel content, kidneys, and stomach. The examination of lungs indicated a left superior lobe hemorrhage. The cardiac examination attested a bilateral cardiac ventriculomegalia and arterial duct persistence. The necropsy revealed also many cysts (the adult form) in liver and kidneys. One kidney was enlarged (4/6 cm), with a large pielon situated at its inferior pole; the other one was small - 0.4 cm, localized on the surface of the big kidney. The large bowel ended in a “ cul-de-sac” manner, into a 3/4 cm pool with thick wall: the cloaca. Also, were identified: pancreas agenesia, ambiguous external genital organs, imperforated anus, lombar neural tube defect ( spina bifida occulta ) and a stomach with accentuated folds. The microscopical examination of the liver described inflammatory stasis and multiple cysts (0.5-0.8 cm) with serosangvinolent content. In the kidneys we identified many cysts of 0.8/1/1.5 cm, disposed in the cortex as in the medullar area of the organ, separated by a fibrous tissue. The cloaca had a thick fibromuscular wall covered with a squamous epithelium, without keratinisation and urothelium. The umbilical cord was short (17 cm), with two vessels (one artery and one vein separated by a segment of 2 cm). The placenta had important calcifications, thrombosis and capillary congestion. The karyotype effectuated from the cord blood immediately after delivery was normal – 46,XY. 3
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