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Mucocolpos in a 7 Month old newborn

22 Jul


Imperforate hymen is an extreme manifestation of hymenal variation occurring in as less as 0.0014 to 0.1% of infants girls. Female infants with imperforate hymen rarely present with urological complications. We would like to  present  an unusual case of urinary incontinence with hydroureter and hydronephrosis in a 7 month old female child due to a large mucocolpos. This infant was successfully treated surgically.

 Case  Report

A  mother presented to the Uro-Gynaecology Outpatient department with her 7 month old daughter having complaints of urinary incontinence with dribbling of urine and mass in lower abdomen since last 15-20 days. On examination there was a large cystic mass in the hypogastrium which was extending upto the umbilicus. The lower end of masscould not be reached suggesting that it was arising from the pelvis. Ultrasonography showed a large cystic mass arising from the pelvis with a distended urinary bladder, hydroureter and hydronephrosis.(Fig 1). Differential diagnosis of bladder diverticulum, mesenteric cyst, a tuboovarian mass,or an ovarian cyst was made. Cystourethrogram was performed which showed a distended urinary bladder displaced anteriorly due to some mass behind it(Fig 2,3). Detailed gynecological examination was done under anaesthesia which revealed a bulging  IMPERFORATE  HYMEN. It was incised by a cruciate incision and ~1500 ml of straw coloured fluid was drained out.


Ambroise Pare first described Imperforate hymen in 1633.1  Most distal form of vaginal outflow obstruction is called “imperforate hymen”. During normal embryological development, the central portion of the hymenal membrane disappears, creating the hymenal opening at the level of the vaginal vestibule.(Fig 4). Persistance of the intact hymenal membrance results in the condition of imperforate hymen. The imperforate hymen is a solid membrane interposed between the proximal uterovaginal tract and the introitus. This vertical fusion defect from other vertical fusion defects in that it is not derived from the mullerian system. This vaginal oulet obstruction leads to entrapment of vaginal and uterine secrection above it forming a cystic collection in the pelvis. Large mucocolpos can cause urethral compression anteriorly leading to bladder outflow obstruction,urinary retention with urnary tract infection, hydroureter and hydronephrosis. Most neonates with imperforate hymen are missed at birth, delaying the diagnosis sometimes upto early adolescence when they present with hematometrocolpos. Imperforate hymen may also present with back pain ,urinary retention (37%- 60% of patients ), and constipation.2 Physical examination may reveal a lower abdominal mass on plapation, or a pelvis mass on bimanual rectal examination. The diagnosis of imperforate hymen is often established during examination when a distended bluish membrane is observed at the introitus. In the absence of this finding, only imaging study by ultrasound or MRI can establish the level of obstruction. The differential diagnoses of uterovaginal obstruction include disorders of vaginal development, such as a transverse vaginal septum or complete vaginal agenesis.which may be associated with other development anomalies(e.g, Rokitansky- Kuster-Maier-Hauersysdrome).

Prenatal diagnosis of imperforate hymen has also been reported. Fetal diagnosis has occurred as early as 25 weeks` gestation. A thin bulging memebrane separating the labia in association with a distended vagina is apparent on ultrasounography,3 these finding are usually noted during an evaluation for fetal ascites and are thought to result from distal urinary tract obstruction, however they can also be related to reflux of uterine contents through the fallopian tubes. Ascites and bladder outlet obstruction are the most common associated finding in the fetal period.4  Intestinal, cardiac and anorectal defects have NOT been reported in conjuction with imperforate hymen. Sometimes polydactyly is associated with imperforate hymen as in Mckusick-Kaufmann sysdrome.5

Careful evaluation of the perineum of the newborn is essential. Female neonate has full labia majora under the influence of maternal estrogens. Inspection of the introitus reveals that hymenal membrane is pink and slightly edematous. In the newborn with an imperforate hymen, the membrane is often bulging because of retained mucoid secretions. A vaginal cyst which fills the introitus but is attatched only to one vaginal aspect should be distinguished from imperforate hymen.

Aspirating secretions beyond the obstruction should be deferred because this procedure may result in iatrogenic pyocolpos. Instead, the diagnosis should be confirmed by performing noninvasive imaging studies (Ultrasonography, MRI) to determine the extent of vaginal outflow obstruction and to diagnose other associated anomalies (i.e imperforate hymen and a transverse vaginal septum) can occur.6

References :

  1. Wall EM, Stone B, Klein BL. Imperforate hymen: a not-so-hidden diagnosis. Am J Emerg Med. May 2003;21(3):249-50.
  2. Nazir Z, Rizvi RM, Qureshi RN, Khan ZS, Khan Z. Congenital vaginal obstructions: varied presentation and outcome. Pediatr Surg Int. Sep 2006;22(9):749-53.
  3. Winderl LM, Silverman RK. Prenatal diagnosis of congenital imperforate hymen. Obstet Gynecol. May 1995;85(5 Pt 2):857-60.
  4. Ogunyemi D. Prenatal sonographic diagnosis of bladder outlet obstruction caused by a ureterocele associated with hydrocolpos and imperforate hymen. Am J Perinatol. 2001;18(1):15-21.
  5. El-Messidi A, Fleming NA. Congenital imperforate hymen and its life-threatening consequences in the neonatal period. J Pediatr Adolesc Gynecol. Apr 2006;19(2):99-103.
  6. Ahmed S, Morris LL, Atkinson E. Distal mucocolpos and proximal hematocolpos secondary to concurrent imperforate hymen and transverse vaginal septum. J Pediatr Surg. Oct 1999;34(10):1555-6.
  7. Internet website  available on

(This reference has been used in legend  4a and 4b)


Legends :

Fig 1 :  Ultrasonography showing Hydronephrosis and Hydroureter

Fig 2 : Cystourethrogram showing bladder compressed and displaced anteriorly  due to some mass behind .(both anteroposterior and posteroanterior view)

Fig 3: Cystourethrogram showing a distended urinary bladder extending upto the ribcage of the baby.

Fig 4a: In females, the development of the SUG (urogenital sinus) begins in the 3rd month, at the same time as the formation of the vagina.7

1=Genital tubercle   2= Vestibule  2a =SUG : phallic part  2b= SUG : lower  pelvic part of definitive  urogenital sinus   3=Vaginal plate  4=Perineum  5=Rectum  6= Utero-vaginal canal   7 = Urinary bladder  8=Urethra

Fig 4b: The pelvic part of the SUG has shrunk and will be retracted into the phallic part in order to form the definitive vaginal vestibule.7

2= vestibule  3a = uterine cavity  3b =uterine cervix  6a= vagina:lower fourth out of endoderm 6b =vagina :upper 3/4th out of mesoderm   9= hymen



 Dr. Baldawa Pratibha S                  

M.S(Obgyn),D.N.B, D.G.O,F.C.P.S,D.F.P,   Assistant Professor .

Correspondence address :

Baldawa Hospital, Budhwar Peth, Near Kasturba Market, Solapur – 413002,


Phone: (+91) 217- 2324762 (home), (+91) 9745306852 [Mobile].

Email :


Adnexal USG – Dr Sameer Dikshit

3 Feb

About the Author:

Dr.Sameer Dikshit, MD, DGO, FCPS,FICOG

A fetal medicine consultant of vast practical experience. Trained at prestigious King’s College London.


Website: (Powered by Websites For Doctors)

Laparoscopic Management of Achalasia Cardia in a 6 month old infant

20 Nov


Achalasia is a rare motility disorder of esophagus and is characterized by increased resting pressure of lower esophageal sphincter and reduced motility of the body. This results in functional obstruction and failure of relaxation of the lower esophageal sphincter (LES). The classic presentation is difficulty in swallowing and vomiting of undigested food, and children can often present with chest pain. In some instances, these symptoms can lead to considerable weight loss.

This condition is relatively rare in young children, and although some cases have an early onset, most are diagnosed in late childhood or early adolescence. We are yet to come across any reported case of achalasia in a 6 month old.

The classical treatment of achalasia in children is surgical division of lower esophageal sphincter, which decreases the sphincter pressure (Heller’s cardiomyotomy). This is done either by thoracotomy or by laparotomy, and used to be a formal undertaking. The development of

endoscopy and balloon dilatation of the sphincter, which aims to fracture the sphincter from within, rapidly gained popularity due to its relative non-invasive nature. Although 90% success rate has been claimed during the first year of follow up, the advantage peters away on long-term study, necessitating repeated dilatation. Endoscopy guided injection of Botulinum toxin into the sphincter is another option as Botulinum decreases sphincter pressure. But the results are short lived, and the inflammatory response and fibrosis makes subsequent surgery rather difficult.

The ideal antireflux procedure following laparoscopic Heller myotomy for achalasia is controversial. The authors present a laparoscopic technique of Heller’s cardiomyotomy with partial anterior fundoplication to bolster the myotomy [1].

Case report:

A 6 month old baby presented to us with persistent vomiting from 2 months of age and failure to thrive. He weighed 4 kg at 6 month of age. His other systemic examinations were normal. A barium study was done which showed holding up of barium, narrowing of the distal esophagus and delayed passage of barium into the stomach. Findings were consistent with Achalasia cardia (Fig. I). Upper GI endoscopy was not possible because of unavailability of a miniature infant endoscope. In a joint meeting with the pediatric gastroenterologist it was decided worthwhile to consider for surgery as repeated dilations will be more traumatic, stressful and morbid for a 6 month old infant with 4 kg weight. The child was taken up after anesthetist deemed the child fit for a laparoscopic Heller’s cardiomyotomy with Dor’s anterior fundoplication.

Surgical Technique:

A 24 Fr Nasogastric tube was introduced orally (Fig. II), over which the repair was done. A pneumoperitoneum was created using the Hassan’s technique, and 5 ports were inserted (Fig. III). 4 ports were 5 mm and a 3mm epigastric port was used to retract the left lobe of liver. A 5 mm 30 degree scope was introduced through supraumbilical port in the midline. The abdominal esophagus (AO) was identified and the phreno-oesophageal ligament divided.  The AO was completely exposed and pulled from the cardio-esophageal junction through the left anterior axillary port. A myotomy was performed from 2cm onto the stomach to the upper limit of the AO, about 5-6cm on the anterior aspect of the lower end of the esophagus to the left side of the anterior vagus nerve.  The muscle was split with good exposure (bulge) of the mucosa (Fig IV). An anterior fundoplication was done with 2/0 silk sutures taking 3 separate stitches. A stitch of the fundus to the left myotomy and right myotomy was taken separately to keep the myotomy open. (Fig V). Air was pushed with saline over the myotomy to ensure no leak. In the 3rd bite a part of the fundus was stitched to the angle of the hiatus so that the fundus covers over the bulged esophageal mucosa. The wounds were then closed with absorbable sutures and an adhesive dressing was applied (Fig VI).

Post-operatively, the patient was kept fasting for 48 hours. The baby was commenced on a liquid diet through the nasogastric tube after 2 days. Injectable co-amoxiclav was administered for 5 days with rectal paracetamol suppository for pain relief. Patient’s length of stay was 5 days, till he was started on oral feeds after removing the nasogastric tube. The patient was reviewed in our clinic 6 weeks after discharge from hospital, and was well, he had no difficulty  in swallowing with  no further episodes of vomiting with satisfactory weight gain.

The predominant pathological process of achalasia involves the loss of ganglion cells from the wall of the esophagus, and this starts at the LES and develops proximally. The loss of nerves along the esophagus causes a lack of peristalsis, which in turn leads to stasis of undigested food and subsequent dilation of the esophagus. There are several forms of treatment for achalasia which include both conservative and surgical management, and the decision of which to choose involves the consideration of multiple clinical and economic factors.

Conservative management includes the use of pharmacological agents which do not eliminate the underlying disease but instead, only temporarily improve the condition. These include calcium channel blockers (e.g. nifedipine) and nitrates (e.g. isosorbide dinitrate), which act by compensating for the decrease in the inhibitory neurotransmitter, nitric Oxide (NO), and this facilitates a decrease in the LES tone.  In addition, use of these medications on a long term basis usually results in tolerance, and this significantly diminishes its effects over time.  Endoscopic therapy of botulinum toxin has been shown to improve the symptoms of dysphagia and regurgitation, decrease the tone of the LES and improve esophageal emptying.  However this may need to be repeated on several occasions to maintain an effect.  Pneumatic dilatation of the LES has also been shown to be effective and is thought to achieve symptomatic effect while being able to avoid the risks of more invasive surgery. However, there are risks associated with this procedure itself, like esophageal perforation and worsening symptoms of gastro-esophageal reflux [2]. There are no literature supporting such treatment in a 6 month old infant.

Surgical management is well documented in the literature and with minimally invasive surgery being the current trend in management of many surgical cases, it is no surprise that this is becoming the desired method of treatment. Large reviews have documented a 90% overall improvement of symptoms following surgery and this remains as high as 80% after 5 years [3]. There are quite conflicting results, however about the rate of gastro-esophageal reflux after performing a cardiomyotomy, and so the general trend is to do an anterior fundoplication (also known as a Dor Fundoplication) at the same time [4]. Operative complications, as in any other procedure, can occur, but are rare. These include mucosal tearing, perforation or post operative leakage [5]. Surgical therapy after failed pneumatic dilatation has also been shown to be very effective.

Considering the age of the child and a narrow working space between the liver and the hiatus, it was a very demanding procedure completed successfully. In essence, the morbidity associated with this procedure is minimal, and the laparoscopic approach allows for faster recovery, a decreased period of immobility, shorter time to tolerating oral diet and so, decreases the length of hospital stay. Overall, laparoscopic Heller’s cardiomyotomy provides a safe and effective alternative for children presenting with esophageal achalasia [6]. We report the rare occurrence of Achalasia cardia in a 6 month old infant treated by a demanding laparoscopic Heller’s cardiomyotomy with Dor’s anterior fundoplication.



1)      Angkoolpakdeekul, Theerapol T; Jakapark, Suriya S (2007)  Laparoscopic Heller myotomy with dor antireflux for achalasia. J Med Assoc Thai. 90(5): 988-93.

2)      Lake JM, W. R. “Review article: the management of achalasia (2006) A comparison of different treatment modalities.” Aliment Pharmacol Ther. 24: 909-18.

3)      Palanivelu C, M. G., Jani K, Parthasarthi R, Sendhilkumar K, Rangarajan M. (2007). “Minimally invasive management of achalasia cardia: results from a single center study.” JSLS. 11: 350-7.

4)       Nomura T, M. M., Makino H, Okawa K, Iwakiri K, Tajiri T. (2008). “Usefulness of the laparoscopic Heller-Dor operation for esophageal achalasia: introducing the procedure to our institution.” J Nippon Med Sch. 75: 207-11.

5)      Esposito C, M.-S. M., Roblot Maigret B, Amici G, Desruelle P, Montupet P. (2000). “Complications of laparoscopic treatment of esophageal achalasia in children.” J Pediatr Surg. 35: 680-3.

6)      Wang QS, L. L., Dong L, Shen ZL, Zhou DH, Hu CX. (2006). “Laparoscopic Heller-Dor operation for patients with achalasia.” Chin Med J (Engl). 119: 443-7.


About the Authors:

Prakash Agarwal, Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

R.K.Bagdi, Ex Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

S. Balagopal, Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

R Madhu, Associate Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

P. Balamourougane, Associate Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

Moorthy G,Assistant Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

Manoj kumar, Senior resident, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.


Corresponding author:, 

Dr. Prakash Agarwal

F-31, H block,

Jains Avantika Apartments,

Manapakkam, Chennai – 600116

Phone- +91-9840114749

E mail:


Neural tube defects with gastrointestinal malformations – Dr. Baldawa Pratibha

1 Oct


BACKGROUND: The term “Iniencephaly” derives its nomenclature from two greek words ‘Inion’ meaning back of the head and ‘encephalos’ meaning brain. Isolated Iniencephaly is a rare neural tube defect(~0.1-10:10,000 ) whereas Anencephaly represents the most common neural tube defect (~1:1000). CASE: We describe a rare case of Iniencephaly with Anencephaly and Gastrointestinal atresia diagnosed at 18 weeks of gestation. Pregnancy was terminated due to its fatal prognosis.

CONCLUSIONS: These parents should be given adequate emotional support and counselled about recurrence risk,need for periconceptional folic acid supplementation and an early ultrasound scanning at 11 weeks during next pregnancy, to prevent any delay in diagnosis of such lethal anomalies.



Iniencephaly is an uncommon and fatal neural tube defect(NTD) involving the occiput and inion combined with rachischisis of the cervical and thoracic spine with retroflexion of the head  [1]. The incidence of iniencephaly varies from 0.1-10:10,000. [2]. Whereas Isolated Anencephaly represents the most common NTD. Its incidence is approximately 1:1000 with female predominance (4:1) and geographical variability.



A 28 years old primigravida of noncansanguinous marriage, of Indian origin, presented to Antenatal Outpatient Department  at 18 weeks. There was no past or  present medical or surgical illness. Her family history was not contributory. There was no history of radiation exposure or drug intake during this pregnancy. She had a previous dating scan of 7 weeks which was corresponding to her menstrual age. She was referred for an ultrasound scan at 18 weeks to rule out any congenital anomalies. The Ultrasound scan revealed a grossly anomalous fetus with frog -like eyes, absent calvaria and freely suspended brain matter in the surrounding liquor (Fig1a,b; Fig 2a,b), star-gazing fetus(extended head), absence of stomach bubble suggestive of  esophageal atresia (Fig 3a,b ; Fig 4a,b ), spinal curvature abnormality on saggital scan (Fig 1b), spinal defect in cervical and thoracic region on coronal scan(Fig 5). The limb bones appeared normal and there was no evidence of polydactyly or club foot.The patient was sympathetically counselled and informed about the diagnosis. Termination of pregnancy was advised in view of the lethal nature of the abnormality.

Medical second trimester abortion was carried out using oral Mifepristone and Misoprostol. The female abortus weighed 376 gms and showed features corresponding to the Ultrasound findings. Frog like protruding eyes on the fixed retroflexed face with absence of cranial vault and extensive hanging out brain matter could be seen.(fig6a). Face was upturned and mandibular skin was directly continuous with that of the chest due to the lack of neck(fig 6b). Significant shortening of the spinal column due to marked thoracic lordosis and hyperextension of the malformed cervical-thoracic spine The arms appeared longer than the legs due to apparent shortening of spine caused by deformed spinal curvature. (Fig 6c).The rachischisis extended from the cervical through thoracic spine.

There was anal atresia (only a dimple present at the site of anal opening). (fig 6d). The extremities and digits were normal.(fig 7a,b,c)  Karyotyping revealed 46, XX. The patient was given adequate emotional support and was well counselled about recurrence risk, need for periconceptional folic acid supplementation, and need for an early ultrasound scanning at 11-12 weeks  during next pregnancy, to prevent any delay in diagnosis of such lethal anomalies.


Anencephaly was the first fetal malformation diagnosed prenatally by Campbellet al  [3] using transabdominal ultrasound. Étienne Geoffroy Saint-Hilaire [4] first described Iniencephaly as being caused by arrest of the embryo in physiological retroflexion during the third week of gestation or by failure of normal forward bending during the fourth week. Other probable etiological factors implicated in causing Iniencephaly are, environmental factors like maternal syphilis, drugs such as clomiphene citrate and sedatives [5]. Eberhard Merz et al [6] proposed that due to absence of cervical vertebra and a large foramen magnum, the head assumes an extreme dorsiflexion.[6].Lewis classified iniencephaly into two main groups which are iniencephaly apertus which has an encephalocele and iniencephaly clausus which has a spinal defect but no cephalocele[1]. Much discrepancy exists between various reports regarding the incidence of iniencephaly, varying from 0.1-10:10,000[2] . Jayant K et al have reported an Indian incidence of 1 per 65,000 deliveries with female preponderance in 90% of cases [7]. Morocz I et al also have described  male to female occurrence ratio of Iniencephaly as 1:9 [8], as was seen in our case.

Cimmino CV et al [9] and Bose S et al[10] have described the presently being used diagnostic criteria for iniencephaly,which are a)A variable deficit of the occipital bones resulting in an enlarged foramen magnum, b)Partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies (rachischisis), c) Significant shortening of the spinal column due to marked lordosis and hyperextension of the malformed cervical-thoracic spine, d)Upward turned face and mandibular skin directly continuous with that of the chest due to the lack of neck. Our case showed the last 3 features.  The occipital bones were highly underdeveloped as in anencephaly.The time of onset of Iniencephaly is probably only a few days later than anencephaly.Pathogenesis of isolated Iniencephaly  is different from anencephaly in that the anterior neuropore has closed in isolated iniencephaly.

The cervical vertebrae are  normal in isolated anencephaly, while they are very abnormal in iniencephaly. In our case since there was both an absence of calvarium with abnormal cervical vertebrae, it was a case of Iniencephaly with anencephaly. As Trenouth[11] had demonstrated that brain growth in normal fetuses influences the development of cranial base and position of the face in general and the nasomaxillary segment in particular. In anencephaly, as the influence of the expanding brain is removed, it causes secondary adaptive alterations in the cranial base. The squamous occipital bones are under-developed compared with the normal standard.[11]. Iniencephalic fetus can have any of the following associated anomalies, like Anencephaly (as in our case), cephalocele, holoprosencephaly, agnathia-microstomia-synotia, palatal anteversion, spina bifida, omphalocele, gastroschisis, diaphragmatic hernia or agenesis, pulmonary hypoplasia or hyperplasia, cardiac malformations, renal anomalies, overgrowth of the arms compared to the legs, genu recurvatum, arthrogryposis, club-foot, gastrointestinal atresia (presence of esophageal atresia and imperforate anus /anal atresia in our case) [1,8-10,12-14].

The differential diagnosis includes Klippel-Feil syndrome (shortness of the neck associated with fusion of cervical vertebrae), anencephaly, and a cervical myelomeningocele[2]. The differentiation between iniencephaly clausus and Klippel-Feil syndrome is difficult and controversial. Some authors feel that Klippel-Feil syndrome may be the mildest form of iniencephaly[15]. The recurrence risk for Iniencephaly and anencephaly is like any other NTD – 1-4%. Hence adequate counselling about recurrence risk, folic acid supplementation and early fetal surveillance are advisable.


1. Lewis HL: Iniencephalus. Am J Obstet 1897;35:11-53.

2. Romero R, Pilu G, Jeanty P et al. Prenatal diagnosis of congenital anomalies. Norwalk, CT: Appleton and Lange 1988: 64-67.

3. Campbell S, Johnstone FD, Holt EM, May P. Anencephaly : Early ultrasonic diagnosis and active management. Lancet ;1972:1226-27.

4. Saint-Hilaire IG. Iniencephalus. In: Histoire des Anomalies del”Organisation, Vol.2 Paris: Bailliere,1836:308-10.

5. Nyberg DA, McGahan JP, Pretorius DH, Pilu G. Diagnostic imaging of fetal anomalies. Philadelphia: Lippincott Williams & Wilkins, 2003:315-16.

6.Merz E, Bahlmann F. Ultrasound in Obstetrics and Gynecology.2nd edition..Germany,Georg Thieme Verlag Publishers. 2005: 212-45.

7. Jayant K, Mehta A, Sanghvi LD. A study of congenital malformations in Mumbai. J Obstet & GynaecolIndia 1961;11:280- 94.

8. Morocz I, Szeifert T, Molnar P, et al. Prenatal diagnosis and pathoanatomy of iniencephaly. Clin Genet 1986;30:81-86.

9. Cimmino CV, Painter JW. Iniencephaly. Radiology 1962;79:942-44.

10. Bose S, Makhani JS, Thaker SV. Iniencephaly. Indian J Med Sci1964;18:590-94.

11.Trenouth MJ. Craniofacial shape in the anencephalic human fetus. J. Anat. 1989; 165:215-24.

12. Lemire, RJ, Beckwith, B, Shepard TH. Iniencephaly and anencephaly with spinal retroflexion, a comparative study of eight human specimens. Teratology 1972;6:27-36.

13. Osborne DF. Iniencephalus. Can Med Assoc J 1948;59:474-75.

14. Nishimura H, Okamoto N. Iniencephaly. In PJ Vinken & GW Bruyn (eds) Handbook of Clinical Neurology. Vol 30,New York: North-Holland Biochemical Press, 1977 pp. 257-68.

15. Gilmour JR.The essential identity of Klippel-Feil syndrome and iniencephaly. J Pathol 53:117-131, 1941.




Fig 1a– Transvaginal scan showing bulging frog-like orbits.

Fig 1b– Transvaginal scan with Absent calvarium & brain matter freely suspended in liquor amnii.The hyperechoic  spine is seen in medial sagittal view and shows abnormal curvature ( thoracic lordosis ).


Fig 2a– Transabdominal scan showing coronal view of face with orbits, absent cranial vault and freely suspended brain matter.

Fig 2b-Bulging frog -like eyes.


Fig 3a– Transabdominal scan with Abdominal cross-section showing umbilical vein and absence of stomach bubble suggesting esophageal atresia.

Fig 3b– Colour Doppler image of 4-chamber heart with apex to left. (normally stomach bubble present on left side in abdominal cross section, confirms normal SITUS).


Fig 4a– Transabdominal scan with Abdominal cross-section (higher level oblique section)showing rachischisis of thoracic vertebra (transverse section of vertebra shows a defect -absence of posterior skin with exposed neural tissue).

Fig 4b-Normal foot


Fig 5-Transvaginal scan showing abnormal spinal curvature and cervical and thoracic rachischisis .


Fig6a – Abortus with frog like protruding eyes on the fixed retroflexed face with absence of cranial vault and extensive hanging out brain matter .                               Fig 6b -Upturned face and mandibular skin is directly continuous with that of the chest due to the lack of neck.                                                                                        Fig 6c – Significant shortening of the spinal column due to marked thoracic lordosis and hyperextension of the malformed cervical-thoracic spine The arms appear longer than the legs due to apparent shortening of spine caused by deformed spinal curvature. Fig 6d -The rachischisis extended from the cervical through thoracic spine. There was anal atresia(only a dimple present at the site of anus instead of an opening).


Fig 7a,b,c – The extremities, hands, feet and digits were normal.

, Budhwar Peth, Near Kasturba Market, Solapur – 413002,


Phone: (+91) 217- 2324762 (home), (+91) 9745306852 [Mobile].

Email :


Department(s) and institution(s) –

Department of Obstetrics & Gynecology,

SK Hospital,


Vattapara, Trivandrum, Kerala, INDIA.

Ultrasound features of Breus` Mole — A rarity : Dr. Baldawa Pratibha S

31 Aug

Ultrasound features of Breus` Mole — A rarity

 Abstract –

Breus` mole occurs rarely, in approximately 1:1200 placentas. The author here describes a case of 38 years old diabetic and hypertensive lady who was gravida 4, parity 2, living 2, abortion 1, and presented at 26 weeks to antenatal outpatient department. On Ultrasound she was found to have a Breus` mole with Symmetrical Intrauterine Growth Retardation. She was managed conservatively with increased fetal surveillance, regular Doppler velocimetry, and medical management for her hypertension and diabetes mellitus.Her pregnancy was terminated at 33  weeks by an emergency Cesarean section in view of regular uterine contractions and oligoamnios due to Preterm Premature Rupture Of Membranes(PPROM). The 1.38 kg baby girl was discharged in good condition after 10days of Neonatal intensive care unit care. Thus a Breus` mole can lead to Intrauterine Growth Retardation and should be looked for, especially in the presence of high risk factors like hypertension, diabetes mellitus.

Case History-

A 38-year-old lady, gravida 4, parity 2, living 2, abortion 1, presented for antenatal care at 26 weeks’ gestation. She was hypertensive and diabetic since the past 2 years. She was overweight, body mass index of 30, a nonsmoker with blood group A and Rh type positive with no atypical antibodies. She had family history of hypertension , diabetes mellitus and pre-eclampsia  in her first degree relatives. She had two full term normal vaginal deliveries 10 and 6 years ago and one medical abortion 2 years ago in view of her uncontrolled diabetes mellitus. She was on regular human insulin(rHI) since then and her blood sugar levels (BSL) were well controlled with the present insulin administration.At 26 weeks she had edema feet, blood pressure(BP) of 140/90 mm Hg and  trace urine albumin.

Ultrasound revealed symmetrically growth retarded fetus equivalent to 21 weeks at 26 weeks’ gestation with estimated fetal weight(EFW) of 402 gms + 42 gms. It also revealed the presence of hypoechoic protuberaces on fetal surface of the placenta, with no vascularity, suggestive of old subchorionic hematomas (SH).(Fig 1a,b,c,d). The placenta was thick (more than 5cm) and located posteriorly with no retroplacental hematoma or collection. These SH were spread mainly along the upper and lower fetal surface of the placenta and also reached upto umbilical cord insertion at the lower end of placenta. The fetus showed no gross congenital anomalies. At 26 weeks, on Doppler ultrasound, she had bilateral uterine artery notching, and a fortnightly ultrasound scan for fetal growth assessment was recommended. At 28 weeks, there was persistence of the notching of both uterine arteries.

She was admitted to hospital and strict BP and BSL surveillance was done. She was monitored for premonitory symptoms of eclampsia like headache, vomiting, blurring of vision and for symptoms of hyperglycemia or hypoglycaemia like sudden palpitations, excessive sweating, giddiness. Despite administration of antihypertensives like alphamethyldopa 250 mg four times daily, at 30 weeks, the diastolic BP increased to 150/100 mmHg with mild proteinuria but biochemical profile was normal.

However, her BSL was well controlled by titration with rHI. Nifedipine (5mg ) four times daily was added  to alphamethyldopa and weekly Doppler studies conducted. 2 doses of intramuscular betamethasone were administered 24 hrs apart to accelerate fetal pulmonary maturity.At 32 weeks, she had persistently raised diastolic BP of above 100 mmHg and proteinuria 2+. At 33 weeks, she developed PPROM followed by regular uterine contractions. Doppler study reported absent diastolic flow in Umbilical artery (Fig 2) and  severe oligoamnios (AFI = 4 cm ), EFW of 1400 + 317 gms. At 33 weeks, the diastolic BP remained above 110 mmHg with premonitory symptoms of vomiting and headache, increasing uric acid levels, proteinuria. In view of the fetoplacental insufficiency and severe oligoamnios, a decision of emergency caesarean section under spinal anaesthesia was taken.

rHI was withheld, senior paediatricians on call were summoned and vacancy in Neonatal Intensive Care Unit (NICU) confirmed. A live female baby was born with Apgar scores of 7 at 1 min and  9 at 5 min, weighing 1,380 g.The placenta weighed 420 gms. Macroscopically, the placenta showed scattered areas of old hematomas on the  fetal surface,some measuring up to 5 x 4 cm, and containing yellowish fluid., more towards the lower and upper end of placenta.(Fig 3). There were few areas of calcification on maternal surface of placenta. Histopathological examination of the placenta revealed extensive fibrin deposition in subchorionic space with old hemorrhage.

Thus, macroscopically and microscopically diagnosis of Breus` mole was confirmed.It had compressed the umbilical cord causing fetoplacental insufficiency. Baby was transferred to the NICU where she received expert care and showed rapid improvement.The mother was transferred to the postoperative ward and antihypertensives were continued.Her diastolic blood pressure decreased to 90 mm Hg on day 2 and then became normal  by day 5. Her BSL was checked regularly and decreasing doses of rHI were required to maintain satisfactory BSL.The postoperative period was uneventful and she was discharged on the postoperative day 10 along with her baby.


Since the first description of a subchorionic tuberous hematoma by Karl Breus` in 1892 in five cases of missed abortion, its etiology and pathogenesis remained a dilemma in the 18th  and early 19th century. (1,2) .The term Breus` “Mole” does not actually mean molar degeneration as seen in hydatiform moles,but is related to “mass” or coagulated blood.(1) Breus` mole is a condition in which maternal blood collects and separates the chorionic plate from the villous chorion .

(2) Breus`postulated that after embryonic death , membranous growth continues which later gets filled up with hemorrhage forming the hematoma, thus concluding fetal death to be the primary factor and hematoma development as secondary. (1,3) But in the later years, after further studies, many authors contradicted Breus` postulation, most prominent among which was a  report by Shanklin and Scott who studied ten placenta of 25 weeks and beyond and had seven liveborn infants, thus disapproving of the fact that fetal death is a primary event in formation of Breus` mole. Their incidence was 1:1200 placentas.(1,4) .


Despite various studies no unified etiology has emerged for development of Breus mole, however it may occur in mothers with various medical problems including disorders of circulation, complex heart disease, monosomyX (45XO -Turner syndrome),hypertension, diabetes and anticoagulation therapy, maternal thrombophilia.(1,4,5,6) Baxi and Pearlstone  suggested that presence of autoantibodies increases the tendency of platelet aggregation leading to thrombosis and/ or vasculitis causing Subchorionic thrombohematoma.(2,7).

Breus` mole has been pathologically described as cystic degeneration of subchorionic intervillous thrombi.(2) There is regular formation of laminated thrombi in small quantities in the subchorionic space causing backward flow of intervillous (maternal ) blood.This eddying of intervillous blood causes small amounts of fibrin deposition in subchorionic space which is seen as white patches or as bosellations on the fetal surface of placenta.(2,8) When such large patches of subchorionic coagulation contract, fluid may be extruded from them thus forming cysts which contain old clotted blood.(2,8)A Breus mole (coagulated  mass) may be large enough to cause protuberance from fetal surface of placenta and be detected by prenatal ultrasound.(8,9) .

Their significance depends not on their size, but on their site of appearance. For eg: if near cord insertion they may lead to cord compression and decreased fetal perfusion , fetoplacental insufficiency  as discussed in one of the cases by Kirkinen & Jouppila where hematoma dissected into base of the umbilical cord causing umbilical venous obstruction and furcate cord insertion. (8,9) Also a massive subchorionic thrombohematoma may lead to Oligohydarmnios and Intrauterine Growth retardation as described in their case report by Naoko Nishida.(2) Thus the indepth knowledge on the pathogenesis of Breus mole concluded to its histopathological fibrinoid nature and its clinical significance of probability of causing Intrauterine growth retardation and oligoamnios.

Fig 1

Subchorionic hematoma

Fig 2Absent diastolic flow in umbilical artery



1. Benirschke K, Kaufmann P. Pathology of the human placenta.4th ed.New York:

Springer; 2000 .

2.Naoko Nishida, Shunji Suzuki,Yukie Hamamura,Kenji Higarashi ,Zuisei

Hayashi,Rintaro Sawa, Yoshio Yoneyama,Hirobumi Asakura,Ken Kawabata,Yoshi

Shima,Sumio Shin,Tsutomu Araki􀀒:Massive Subchorionic Hematoma(Breus`mole)

complicated by Intrauterine Growth Retardation. JNipponMed Sch 2001: 68.

3. James Blake Thomas:  Breus` Mole.Obstetrics & Gynecology 1964;24:794-97

4. Shanklin DR, Scott JS:Massive subchorial thrombohaematoma (Breus' mole). . Br J
    Obstet Gynaecol. 1975 Jun;82(6):476-87.

5. A.E.Madu: Breus’ mole in pregnancy.Journal of Obstetrics and Gynecology


6. Usta, Ihab M., Abdallah, Mazen , El-Hajj,  Nassar, Anwar H: Massive

Subchorionic Hematomas Following Thrombolytic Therapy in Pregnancy.

Obstetrics & Gynecology 2004; 5:1079-82

7. Baxi LV, Pearlstone MM:Subchorionic hematomas and the presence of

autoantibodies.Am J Obstet Gynecol 1991 ;165 :1423-24.

8. Ona Marie Faye-Petersen, Debra S. Heller,Vijay V. Joshi. Handbook Of Placental

Pathology.2nd ed.United Kingdom: Taylor and Francis Group; 2006

9. P. Jouppila, P. Kirkinen, R. Puukka : Correlation between umbilical vein blood

flow and umbilical blood viscosity in normal and complicated pregnancies.

Archives of Gynecology and Obstetrics 1986 ;237

Legends –

Fig 1a- Subchorionic hematoma at the upper end of placenta appearing as

protuberances on fetal surface of placenta.

Fig 1b- Large Subchorionic hematoma (4.7 x 3.1 cm) at the lower end of placenta .

Fig 1c – Colour doppler showing absent vascularity in the hypoechoic collections

on fetal surface of placenta thus excluding placental lakes .

Fig 1d- Thick posteriorly located placenta.

Fig 2 – Absent diastolic flow in umbilical artery seen on Doppler ultrasound at 33


Fig 3- Gross appearance of placenta showing  areas of old hematomas on the  fetal

surface,some measuring up to 5 x 4 cm, and containing yellowish fluid., more

towards the lower and upper end of placenta


 Dr. Baldawa Pratibha S                  

M.S(Obgyn),D.N.B, D.G.O,F.C.P.S,D.F.P,   Assistant Professor .

Correspondence address :

Baldawa Hospital, Budhwar Peth, Near Kasturba Market, Solapur – 413002,


Phone: (+91) 217- 2324762 (home), (+91) 9745306852 [Mobile].

Email :


Department(s) and institution(s) –

Department of Obstetrics & Gynecology.



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