GYNAECOLOGY AND OBSTETRICS
|Year : 2005 | Volume
| Issue : 1 | Page : 85-88
|A case report of foetus having combined features of LBWC + OEIS Complex
HR Shah, PC Patwa, AV Tannk, JB Pandya, C Nayak, R Garasia
Professor of Radiology, E.S.I.S. General Hospital, Bapunagar, B.J. Medical College, Ahmedabad. 380 024., India
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Keywords: Anterior abdominal wall defect, Omphalocele, O.E.I.S. Complex (Omphalocele Extrophy Imperforate anus Spinal anomaly), LBWC (Limb Body Wall Complex), Amnotic Band
|How to cite this article:|
Shah H R, Patwa P C, Tannk A V, Pandya J B, Nayak C, Garasia R. A case report of foetus having combined features of LBWC + OEIS Complex. Indian J Radiol Imaging 2005;15:85-8
|How to cite this URL:|
Shah H R, Patwa P C, Tannk A V, Pandya J B, Nayak C, Garasia R. A case report of foetus having combined features of LBWC + OEIS Complex. Indian J Radiol Imaging [serial online] 2005 [cited 2019 Sep 21];15:85-8. Available from: http://www.ijri.org/text.asp?2005/15/1/85/28754
| Introduction|| |
In embryonal development during 5th - 6th menstrual week, developing embryo is transformed from a flat disk to a cylindric shape. This process is accomplished by the folding of the cranial, caudal and lateral ends of the embryo simultaneously. This significant transformation, accompanied by the development of foetal organs establisheds the body form, the end of 10th week.
Prenatal detection of anterior abdominal wal defect has significantly improved over last few years. It is among the more definitive diagnosis that can be made in a routine obstetric ultrasound examination.
The Standard views required for prenatal ultrasound examinations, as per the guidelines of American College of Radiology, are the demonstrations of the umbilical cord insertion over foetal abdomen and
the integrity of the anterior abdominal wall. Routine demonstration of the foetal urinary bladder plays
an important role, because the more complex forms of abdominal wall anterior abdominal wall defects ranging in complexity from simple omphalocele to complete Limb Body wall Complex (LBWC).
Here, we present a case report of multiple abnormalities in a foetus having LBWC defect associated with cloacal extrophy.
| Case report|| |
A 28 year old female having 6 month amenorrhoea, came for routine antenatal ultrasound examination. Her previous delivery was full term normal delivery at our hospital before 3 years with an uneventful perinatal period. On sonography, there was a single, live foetus seen with sluggish movements and following measurements
BPD: 52mm 21 weeks 6 days
FL : 34mm 20 weeks 5 days.
Foetal spine was deformed with acute angulation in lower dorsal region resulting in local kyphosis; opposite an anterior body wall defect, through which liver and small bowel herniated in an amniotic fluid having short two vessel umbilical cord attached to its tip [Figure - 1][Figure - 5].
There was evidence of large lobulated anechoic sac measuring 20 x 10 cms in size which was arising from lumbosacral region of the foetus [Figure - 2].
Foetal bladder was not visualized.
Foetal skull was oval with increased AP diameter with mild hydrocephalus (Dolichocephalic head).
Placenta was posterior. There was oligohydramnios. An amniotic band was seen [Figure - 3].
2D eacho doneon intra-corporeal heart showed multiple VSDs giving the ventricular septum a
"Swiss Cheese" appearance; with possibility of large VSD, small fossa ovale and ASD.
Doppler study confirmed two vessel umbilical cord. Diaphragm could not be properly visualized throughout its extent.
Antenatal X-ray was taken, confirmed acute angulation of lower dorsal spine and showed splaying of multiple ribs on right side.
Parents elected to go on for MTP and induced vaginal delivery was conducted. Delivered specimen
had 7 cm long umbilical cord attached to tip of omphalocele, which was 12 x 10 cm size, containing liver and small bowel [Figure - 4].
Just below the omphalocele, in the midline, another protrusion seen along lower anterior abdominal wall which showed similarity to bowel mucosa on histopathological examination, suggesting possibility of bowel/cloacal extrophy.
HPE of umbilical cord confirmed its two vessel nature.
In perineal region, there was no anal opening and genitalias were not developed.
20 x 10 cm size lobulated meningomyelocele was present at lumbosacral junction and below.
Foetal specimen was cut open through an anterior vertical incision and organs examined, the examination confirmed, deformed right thoracic cage with defective diaphragm.
However both lungs were present on either side of the heart. Spleen and both kidneys were present.
Examination of limbs revealed that
- Left foot had only two toes with grossly hypertrophied great toe.
- Right foot had four toes with fusion of 3rd & 4th toe.
- Right upper arm had a ring like circular soft tissue contraction probably produced by amniotic band.
- Both hand had normal number of digits.
- Foetal head was dolichocephalic. Radiographs of foetal specimen confirms the above findings
[Figure - 6]. For genetic councelling; Karyotyping of both parents was carried out; which was of normal chromosomal pattern.
| Discussion|| |
Two basic mechanisms act independently or in combination to generate the wide range of anomalies from a Gastrochisis to the complicated LBWC.
1) Vascular disruption
2) Errors in embryonic folding.
The timing of vascular disruption, can explain the severity of anomalies observed, and may make the difference between ABS versus LBWC; they would represent a spectrum of the same pathologic process .
Predominant disruption in embryonal caudal folding produces partial agenesis of hindgut and the complex anomalies that make up cloacal extrophy (OEIS complex) ,.
Predominant disruption in embryonal lateral folding results in omphaloocele .
After 12 menstrual weeks, when herniated bowel with or without liver are covered by a membrane
with umbilical cord insertion occurring at or near its apex; it represents omphalocele.
On antenatal sonography, the membrane covering the sac may not be visible, in the absence of ascites, however its presence is implied by the containment of herniated viscera .
When omphalocele is associated with oligohydramnios, the association with other anomalies is increased (7).
| Lbwc|| |
An Omphalocele with a distinctive Scoliosis, seen on antenatal sonography, is the hall mark of LBWC.
Prevalence rates of various conditions are : -
- Omphalocele : 205 in 10,000 births.
- OEIS complex : 0.05 in 10,000 births.
- LBWComplex : 1 in 14,000 to 42,000 births.
The discrepancy in reported incidence may be probably due to frequent spontaneous abortions associated with LBWC.
- ABS : 7.8 to 178 in 10,000 births.
LBWC is complex set of disruptive anomalies consisting of failure of anterior abdominal wall to close, short umbilical cord, disruption of lateral body wall, distinctive scoliosis of the spine, limb defects, ficaial and cranial anomalies.
The mechanisms of pathogenesis include :
1. Alteration in blood flow leading to disruption and incomplete development of embryonic tissue at 46 weeks.
2. Early rupture of amnion, before obliteration of coelomic cavity.
3. Faulty folding of three axes with associated failure of obliteration of the coelomic cavity and abnormal formation of amniotic sac.
Limb anomalies are seen in 95% cases of LBWC, while 74% cases have associated deficient diaphragm.
Associated amniotic band may be present in 40% of cases, which may be as a consequence of vascular disruption.
LBWC is always fatal, most of the foetus undergo spontaneous abortion. However there is no risk
of recurrence. Chromosomal study (Karyotyping) of foetus and parents are essentially normal.
| CLOACAL EXTROPHY (OEIS COMPLEX)|| |
It is a rare association of anomalies, which include omphalocele, extrophy, imperforate anus and spina bifida.
Any abnormality in the formation of uro-rectal septum results in the failure of urogenital sinus to separate from the rectum. The mesodermal proliferation forming the infra-umbilical abdominal wall and genital tubercle fail to develop.
Other associated anomalies are hypoplastic chest, diaphragmatic hernia, meningocele, two vessel cord, vertebral anomalies.
| Amniotic band syndrome|| |
ABS is a congenital malformation, that involves a wide spectrum of abnormalities ranging from minor constriction rings to complex and bizarre multiple congenital anomalies that are due to amniotic bands that stick, tangle and disrupt foetal parts. Constriction rings usually involve digits and extremities, resulting in lymphoedema or amputation. Two theories have been proposed to explains ABS :
Endogenous Theory : Focal developmental error in the formation of limb connectiove tissue.
Exogenous Theory : Rupture of the amnion, leading to oligohydramnios, as the probable cause.
| References|| |
|1.||Timor : Tritsch IE, Warem WP, Peisher DB : First - trimester midgut herniation; A high frequency transvaginal sonography study. Am J. Obstet. Gynec. 161: 831; 1989. |
|2.||Van Allen MI, Corry C, Gallagher L : Limb, Body wall Complex. I : Pathogenesis. Am. J. Med. Genet. 28:529, 1987. |
|3.||Tank ES : Urologic complication of imperforate anus and cloacal dysgenesis. In Compell's Urology. Philadelphia, W. B : Saunders, 1986, p. 1989. |
|4.||Erb R, JaffeR, Brasen V. et al : Extrophy of the cloaca sequence Fetus 2 : 7515, 1992. |
|5.||Seahore JH : Congenital abdominal wall defects. Clin. Perinatal 5:61, 1978. |
|6.||Nyberg OA, Mahoney BS, Pretonius DH : Diagnostic ultrasound of foetal anomalies, Chicago, Year Book Medical, 1990. |
|7.||Huges M. D., Nybeng DA, Mack LA, et al : Foetal Omphalocele; Prenatal US detection of concurrent anomalies and other predictors of outcome, Radiology 173:371, 1989. |
P C Patwa
87/708, Pushpak Apartments, Mirambika Road, Naranpura, Ahmedabad-380 063
Source of Support: None, Conflict of Interest: None
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]
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