An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence
Çiğdem KUNT İŞGÜDER1, Mine KANAT PEKTAŞ2, Doğan KÖSEOĞLU3, Şahin TAKÇI4
1Department of Obstetrics and Gynecology, Istanbul University, School of Medicine Istanbul, ISTANBUL, TURKEY
2Department of Kocatepe University, School of Medicine, AFYON, TURKEY
3Department of Pathology, Gaziosmanpasa University, School of Medicine, TOKAT, TURKEY
4Department of Pediatrics, Gaziosmanpasa University, School of Medicine, TOKAT, TURKEY
Keywords: Congenital anomaly, Newborn, Prune belly syndrome, Urorectal septum malformation sequence
Prune belly syndrome (PBS) is characterized by a classical triad of congenitally absent abdominal muscles, bilateral cryptorchidism, and a
malformed urinary tract. Urorectal septum malformation sequence (URSM) is identified with the absence of urogenital and anal openings. This
case report describes a 15-week-old female fetus with megacystis, ascites and oligohydramnios in a 19-year-old nulliparous woman. The patient
underwent preterm labor at the 33rd gestational week and delivered a female newborn weighing 2250 grams who died three days later due to
progressive respiratory insufficiency. To the best of our knowledge, this is the third case of an overlap between PBS and URSM in literature. Such
an overlap refers to the existence of left renal agenesis, right renal cystic dysplasia, bilateral club foot and lumbar scoliosis as well as the absence
of abdominal wall muscles, internal genital organs, urethral, vaginal and anal openings. This case report aims to remind the obstetricians about
the concurrent occurrence of PBS with URSM and its poor prognosis.
Prune belly syndrome (PBS) is a congenital syndrome
which is also known as Eagle-Barrett syndrome, Obrinsky
syndrome, Fröhlich syndrome or abdominal muscular
deficiency syndrome with a rare incidence of 1:26000 to
1:40000 births 1
Approximately 97% of the affected cases are male newborns
who demonstrate a classical triad of congenitally absent
abdominal muscles, bilateral cryptorchidism, and a
malformed urinary tract. A deficiency in the development
of abdominal muscles causes the typical wrinkling of the
overlying abdominal skin and such an appearance is usually
the first diagnostic clue. In fact, prune belly syndrome
is a multisystem disease which leads to concurrent
cardiopulmonary, gastrointestinal and musculoskeletal
anomalies in varying morphological features 2.
This syndrome may be also observed in female newborns
but naturally cryptorchidism does not exist in these
newborns. Since affected female newborns do not have the
classical findings of this syndrome, they are often termed
as pseudoprunes. For instance, prune belly syndrome was
identified in 5 female newborns and 13 male newborns in over half a million consecutive life births were detected in
British Colombia from 1964 to 1978 3.
The urorectal septum malformation sequence (URSM)
emerges as a result of a defect in the caudal mesoderm.
In other words, the urorectal septum fails to fuse with
the cloacal membrane and ambiguous genitalia so that
urogenital and anal openings do not appear and lumbosacral
abnormalities occur. This clinical entity is also called
female pseudohermaphroditism with caudal dysgenesis
and cloacal dysgenesis sequence, and it is observed in one
in 50000 to 250000 neonates. Although the complete form
of this sequence is a lethal defect, its partial form has been
reported to be compatible with life 4-6.
This case report describes a female newborn with an
overlapping feature of PBS and URSM.
A 19-year-old nulliparous woman presented to the study
center for a routine pregnancy follow-up. It was learnt
that she was at her 15th gestational week according to her
last menstrual period. There was nothing particular in her
medical history and there was no consanguinity between
her and her spouse.
Obstetric ultrasonography showed a 15-week-old female
fetus with enlarged urinary bladder which measured 30 mm
in its longest diameter. Amniotic fluid index was normal and
no additional sonographic finding was recorded. However,
fetal megacystis, fetal ascites and oligohydramnios were
visualized by obstetric ultrasonography two weeks later. The
couple was informed about the possible poor prognosis of
the fetus, but they decided to continue with the pregnancy.
Thus, the patient was included in weekly follow-up program.
At the 33rd week of gestation, the patient was admitted
to the study center due to preterm labor and premature
rupture of membranes. On the same day, she delivered a
female newborn weighing 2250 grams with a first minute
Apgar score of 3 and a fifth minute Apgar score of 5.
Initial physical examination revealed absent abdominal
wall muscles, bilateral club foot, imperforate anus and
ambiguous genitalia which could be described as a
phallus-like perineal structure without urethral or vaginal
openings. Due to the existence of intercostal and subcostal
retractions, the newborn was transferred to the neonatal
intensive care unit and application of high frequency
oscillatory ventilation was started. Chest and abdominal
X-ray showed an abnormal bell-shaped thoracic cage,
bilateral pulmonary hypoplasia, decreased ventilation in
both lungs, lumbar scoliosis and a distended abdomen.
Abdominal ultrasonography demonstrated agenesis of the
left and cystic dysplasia of the right kidney and absence of
internal genital organs. Karyotyping revealed the presence
of normal 46, XX chromosomes. Despite the drainage of
urinary bladder through an umbilical catheter, the newborn
was lost on the third day due to progressive respiratory
Permission for autopsy was obtained from the family. In
addition to clinical and radiological findings, the foetus
of 43 cm length showed potters facies with manifestations
of ocular hypertelorism, low-set ears, flattened nose and
receding of the chin. There was cystic dilatation of the
abdomen with deficient development of abdominal muscles,
and defective insertion of the umbilical cord in the anterior
abdomen. In addition, club feet were observed (Figure
1). The anal orifice was absent (Figure 2). Intraabdominal
exploration disclosed a bladder measuring 12x9 cm. The
bladder was filled with meconium, and an anastomosis
between the 58-cm-long bowels and the bladder was
observed. Both internal and external layers of the bladder
were flattened, and increased bladder wall thickness
was noted. No tumor was encountered. The urethra was
undetectable. At the right side, an ureteral orifice was
detected. Internal genital organs were not detected in the
pelvic and abdominal regions (Figure 3). At the right side, a
cystic and dilated kidney in its normal anatomical position,
and an adrenal gland with normal dimensions were
observed. The liver, stomach, spleen, pancreas, and heart
were in their normal anatomical location, and no cardiac
anomaly was seen. The lungs had a normal number of lobes.
Click Here to Zoom
|Figure 1: The newborn with bilateral club foot (arrow), and
without abdominal wall muscles.
Click Here to Zoom
|Figure 2: The affected newborn had imperforate anus (arrow)
and a phallus-like perineal structure without any openings.
Click Here to Zoom
|Figure 3: The affected newborn had left renal agenesis (arrow),
flattened urinary bladder and absence of internal genital organs.
Prune belly syndrome has been associated with
cardiopulmonary, gastrointestinal and orthopedic
abnormalities in 75% of the affected cases. For instance,
club foot, pulmonary hypoplasia, potters facies, imperforate
anus and arthrogryposis have been detected in 45%,
45%, 27%, 27%, and 18% of the patients with prune belly
syndrome, respectively 1,3
Moreover, urologic abnormalities such as urethral
hypoplasia or atresia have been specified in around 18%
of the cases and these abnormalities have been addressed
as an independent risk factor for increased mortality. On
the other hand, partial URMS has been associated with
vertebral abnormalities, sacral agenesis/hypoplasia, single
umbilical artery, limb anomalies, tracheoesophageal fistula
and cardiac anomalies in 56%, 47%, 37%, 25%, 18% and
16% of the cases, respectively. Additionally, renal agenesis
and dysplasia have been found in 50% and 82% of the
patients with URMS, respectively 4-6.
The concurrent occurrence of PBS and URMS is an
extremely rare clinical entity. Goswami et al. were the first
to report a case of PBS with URMS 7. A nonviable female
fetus which had a protruded abdomen and ambiguous
genitalia was delivered at the 32nd week of pregnancy.
On autopsy, the fetus was found to have female internal
genital organs but her left kidney, urinary bladder and the
rectum were absent. The sigmoid colon, the ureters and the
fallopian tubes opened into a common cloacal sac and the
histopathological examination of the ovaries indicated the
presence of Leydig cells. Later, Farooqui et al. described
a 34-week-old female twin fetus with absent anterior
abdominal wall muscles, hydrometrocolpos, distended
urinary bladder, moderate hydronephrosis, hydroureter,
and linear streaked calcifications in the hypoplastic left
kidney 8. Despite several surgical interventions, this
newborn was lost at the third postpartum month.
To the best of our knowledge, this is the third case of an
overlap between PBS and URSM in the literature. Such an
overlap was characterized with the existence of unilateral
renal agenesis and unilateral renal cystic dysplasia as well as
the absence of internal genital organs and urethral, vaginal
and anal openings. Bilateral club foot and lumbar scoliosis
were the accompanying abnormalities.
The etiopathogenesis of prune belly syndrome or urorectal
septum malformation sequence is still undetermined. It has
been hypothesized that genetic mutations (i.e., deletion of
hepatocyte nuclear factor-1-beta gene at 17q12) or familial
predisposition (X-linked autosomal recessive mode of
inheritance) may lead to PBS 1,6. The etiology of URSM
has been linked to defective mesodermal proliferation
during early embryonic development. It has been proposed
that the severity of this sequence is related to the gestational
age at which the developmental defect occurs. In vivo
knockdown of Brachyury (a key regulator of mesoderm
formation during early development) can cause anatomical
malformations including skeletal defects, imperforate anus
and ambiguous genitalia 4,6. As for the present case, the
affected fetus had a normal karyotype of 46, XX but the
aforementioned genetic mutations could not be investigated
due to technical inadequacy. There was also no history of
The treatment modalities of PBS include kidney
transplantation, abdominoplasty and corrective surgery for
undescended testes and malformed urinary tract. However,
the prognosis of PBS is poor because of oligohydramniosrelated
pulmonary hypoplasia 3. The prognosis of partial
URSM is also poor and several sessions of corrective
surgery are scheduled if the newborn survives. In this
case, the newborn was lost due to progressive respiratory
insufficiency in her third day 6. The description of such
a case aims to remind the obstetricians of the concurrent
occurrence of PBS with URSM and its poor prognosis.
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