Received: 4 February 2024

| Revised: 3 April 2024

| Accepted: 26 April 2024

DOI: 10.1002/ccr3.8922

CASE REPORT

Prune belly syndrome: A rare case report

Siddinath Gyawali1 | Balkrishna Gyawali1 | Bhumika Ghimire1 |

Bibek Shrestha1 | Pratima Khanal2 | Geha Raj Dahal1 | Dinesh Prasad Koirala1

1
Institute of Medicine, Tribhuvan
University Teaching Hospital, Key Clinical Message
Kathmandu, Nepal In babies presenting with an omphalocele, other components of the prune belly
2
Manmohan Memorial Institute of syndrome should be scrutinized for early diagnosis and timely intervention.
Health Sciences, Kathmandu, Nepal
Abstract
Correspondence A male baby on his 13th day of life presented with an omphalocele. On eval-
Dinesh Prasad Koirala, Institute of
Medicine, Tribhuvan University
uation, he had congenital absence of left kidney and bilateral cryptorchidism.
Teaching Hospital, Kathmandu, Nepal. Therefore, he was diagnosed with prune belly syndrome. He responded well to
Email: koiraladinesh1@hotmail.com abdminoplasty, and wait and watch policy was applied for his cryptorchidism.

KEYWORDS
congenital disorder, cryptorchidism, omphalocele, prune belly syndrome

1 | I N T RO DU CT ION theories fail to explain the mechanism of occurrence of all

The term “Prune belly syndrome (PBS)” was coined by
Osler in 1895, although in 1839, Frolich first described a
case of congenital absence of abdominal wall musculature.
Later in 1950, a total of nine similar cases were reported
by Eagle and Barrett who named it Eagle and Barrett syn-
drome. This condition was also called by different other
names including triad syndrome and abdominal muscu-
lature deficiency syndrome.1 It is a rare congenital disor-
der with an incidence of 3.8 cases per 100,000 live births
in males and 1.1 per 100,000 in females.2,3 This syndrome
consists of a classical triad of urinary tract malformation,
bilateral cryptorchidism, and absence of the anterior ab-
dominal wall muscles. However, the majority of affected
females do not exhibit identical abdominal wall and uri-
nary tract abnormalities.1,4
The pathogenesis of PBS has not been well-­defined yet,
though different theories have been described. These the-
ories are based on the developmental urethral obstruction
or a mesodermal developmental defect. However, these
the components of the triad and the involvement of other
systems in some patients. Therefore, some scientists be-
lieve that more than one mechanism, guided by a genetic
abnormality, is responsible for causing PBS.5–7 A study
believes that mutation in HNF1β (hepatocyte nuclear fac-
tor-­1 beta) gene on chromosome 17q12 might be responsi-
ble for causing PBS.8
Herein, we report a case of a neonate with protrusion
of mass via umbilical region (abdominal wall defect), ab-
sent left kidney (urinary tract abnormality), and bilateral
cryptorchidism, the classical triad of PBS.
2 | C ASE HISTORY/
EX AMINATION
A male baby on his 13th day of life was referred to our
center for protrusion of a mass from the umbilical region
and abdominal distension since birth. He was born to a
24-­year-­old gravida 3, para 2, and living 2 (G3P2L2) female.

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© 2024 The Author(s). Clinical Case Reports published by John Wiley&Sons Ltd.

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The baby was delivered outside our center via normal
labor, at term with a birth weight of 2 kg. The mother was
on regular antenatal checkups (ANCs) with an unremark-
able antenatal history and laboratory results. There was
no history of exposure to teratogenic drugs, radiation,
or illness with fever and rashes during the pregnancy.
Additionally, the mother had no known history of diabe-
tes and there was no history of congenital anomalies in
her family. The baby cried immediately after birth and
breastfeeding was started immediately. He passed stool
and urine within 24 h. Outside our center, the child was
treated with intravenous cefotaxime and intravenous flu-
ids. He was then referred to our center for further workup
and management of the protruded mass seen on the um-
bilical region.
3 | M ET H ODS
On examination, the child had a distended abdomen and a
mass protruding through the umbilical region (Figure 1).
He also had bilateral cryptorchidism. The rest of the
findings including the vitals were within normal range.
Similarly, he did not have any obvious facial deformities.
Initial blood investigations revealed mild hyponatremia,
mild hyperkalemia, and raised CRP level (Table 1). His
blood culture isolated Enterococcus species and injectable
antibiotics: Amikacin and Ampicillin were prescribed as
per the sensitivity. The ultrasonography (USG) of his ab-
domen and pelvis showed that there was a congenital ab-
sence of his left kidney. The echocardiography of the baby
revealed mild anterior tricuspid leaflet (ATL) prolapse
with moderate tricuspid regurgitation (Gradient—22 mm
Hg), presence of patent foramen ovale (PFO) with left to
right shunt, and normal biventricular function (left ven-
tricular ejection fraction [LVEF]: 69%).
Having the classical triad of prune belly syndrome
and features of sepsis, the final diagnosis of prune belly
syndrome with late-­onset neonatal sepsis was made. The
omphalocele was repaired under general anesthesia with
a circumferential periumbilical incision. During the pro-
cedure, an omphalocele containing a loop of viable bowel
along with a Meckel's diverticulum (located 25 cm proxi-
mal to the ileocecal junction) was identified. The Meckel's
diverticulum was excised through a wedge resection,
the bowel was repaired, and umbiliculoplasty was done.
Following the procedure, he was kept nil per oral (NPO)
for 2 days and then breastfeeding was resumed.

4 | CONC LUSIONS AND RESULTS

At the time of discharge, the child was playful, had sta-

ble vitals, tolerating breastfeeding well, and the wound
was healthy. For cryptorchidism wait and watch policy

TABLE 1 Laboratory parameters of the baby at the time of

admission.

Normal
Parameters Results reference used
Hematology
Hemoglobin 173 gm/L 120-­180 gm/ L
Packed cell 48.8% 36%–54%
volume
RBCs 4.66 million/mm3 4.5–5.5 million/
mm3
Leucocytes 8600 4000–11,000
Platelets 204,000 150,000–450,000
Renal function test
Creatinine 29 μmol/L 45–105 μmol/L
Urea 3.1 mmol/L 1.4–4.3 mmol/L
Na+ 130 mEq/L 135–146 mEq/L
K+ 5.4 mEq/L 3.5–5.2 mEq/L
Others
F I G U R E 1 Protrusion of a mass via umbilical region at the
CRP 11.61 mg//dL 0–6 mg/dL
time of presentation.

GYAWALI et al.
was applied as both testes were in the superficial inguinal
pouch. During the next 3-­month follow-­up, the child was
playful, the incisional wound was healthy, and tolerating
oral feeding well.
5 | DI S C USSION
PBS, an ACTG2 (actin gamma 2) visceral myopathy, is a
highly morbid condition as the severe form is associated
with stillbirth, renal failure, urinary infections, and pul-
monary hypoplasia. There is an increased risk of early
neonatal death mainly due to urosepsis and respiratory
failure. This emphasizes the need for early diagnosis and
management with a multidisciplinary approach for pre-
venting poor prognosis.7,9–11 The characteristic prune-­like
wrinkled appearance of the abdominal wall is either due to
the absence or deficiency of abdominal wall muscles.7 The
baby in our case had a distended abdomen with an om-
phalocele due to a defect of abdominal wall musculature.
Most of the patients with PBS have unilateral or bilat-
eral cryptorchidism. Cryptorchidism with or without an
incompetent bladder neck (leading to retrograde ejacula-
tion) and prostatic hypoplasia is associated with infertil-
ity in these patients. In addition, it is also associated with
an increased risk of testicular malignancy.12 The physical
examination of the neonate in the present case detected
bilateral cryptorchidism. The urinary tract abnormalities
in the patients with PBS range from mega bladder, dilated
ureters, abnormal bladder neck, urethral stenosis, and hy-
dronephrosis to dysplastic kidney with significant fibro-
sis, cystic kidney, and thinned-­out renal parenchyma.11
However, the baby being presented here had an absent left
kidney. We suppose that this is the first-­ever reported case
to have renal agenesis as a urinary tract abnormality in
PBS.
During the prenatal period, PBS can be diagnosed by
USG during the second trimester. When fetuses have a
severe urogenital abnormality, oligohydramnios may be
present. After birth, it is diagnosed by USG. To rule out
vesicoureteral reflux (VUR) and to study the bladder outlet
as well as the bladder emptying ability, voiding cystoure-
throgram (VCUG) is indicated. Other investigations are
done to screen for associated organ system pathologies, for
example, echocardiogram of the heart and ultrasound or
CT scan of the abdomen for the cardiac and gastrointesti-
nal anomalies, respectively.1,7
The patient underwent abdominal USG that showed
left renal agenesis. The parents were counseled for an
abdominal CT scan of the child but it was refused. The
echocardiography of the baby revealed moderate tricuspid
regurgitation, the presence of PFO with left to right shunt,
and normal biventricular function (LVEF: 69%). Renal
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   3 of 4
function assessment is used to determine the prognosis of
the disease and the lowest value of creatinine more than
0.7 mg/mL (61.89 μmol/L) is associated with poor prog-
nosis. The child in the case had a normal renal function
(Table 1).
Surgical intervention is the primary treatment for PBS,
involving a series of operations such as urinary tract re-
construction, abdominoplasty, and orchidopexy.13 The
timing and the sequence of these surgical techniques de-
pend on individual cases based on the clinical severity and
the types of defects. Urinary tract should be reconstructed
early with priority in patients with recurrent febrile uri-
nary tract infections (UTIs) or with progressive renal de-
terioration.7 Since, there was no abnormality in the renal
tract, and the patient had a normal right renal system, no
procedures were done involving the urinary system in our
case. For cryptorchidism, orchidopexy is indicated. Since
both the testicles of the baby were in the superficial in-
guinal pouch, we planned to go for the wait and watch
approach for the descent. Similarly, for deficient or absent
abdominal wall musculature, reconstructive procedures
are a must. Depending on the condition of abdominal
wall musculature, timing for abdominoplasty should be
planned.7 The patient being presented here had a defect
in the abdominal wall with an omphalocele, therefore,
abdominoplasty was done as the first surgical procedure
to prevent feeding difficulties, intestinal obstruction, and
failure to thrive. In addition to surgical management, the
medical management of PBS includes the treatment of
associated complications and pathologies. For late-­onset
neonatal sepsis, antibiotics and intravenous fluids were
prescribed.
Therefore, it is critical for pediatrician to be aware of
this rare entity in babies presenting with one or more obvi-
ous features of the triad as PBS can easily be missed. Since,
the presence of a severe form of the disease is associated
with bad outcomes, early diagnosis and immediate man-
agement of PBS is a must to prevent complications and
mortality.
AUTHOR CONTRIBUTIONS
Siddinath Gyawali: Conceptualization; data curation;
formal analysis; investigation; methodology; resources;
validation; writing – original draft; writing – review and
editing. Balkrishna Gyawali: Conceptualization; data
curation; writing – original draft; writing – review and edit-
ing. Bhumika Ghimire: Data curation; writing – original
draft; writing – review and editing. Bibek Shrestha: Data
curation; writing – original draft; writing – review and ed-
iting. Pratima Khanal: Data curation; writing – original
draft; writing – review and editing. Geha Raj Dahal:
Data curation; writing – original draft; writing – review
and editing. Dinesh Prasad Koirala: Data curation;
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4 of 4    GYAWALI et al.

2. Routh JC, Huang L, Retik AB, Nelson CP. Contemporary epi-

supervision; writing – original draft; writing – review and demiology and characterization of newborn males with prune
editing. belly syndrome. Urology. 2010;76(1):44-48.
3. Druschel CM. A descriptive study of prune belly in New York
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drome. J Urol. 1994;152(6 Pt 2):2328-2331.
The authors received no specific funding for this work.
6. Wheatley JM, Stephens FD, Hutson JM. Prune-­belly syndrome:
ongoing controversies regarding pathogenesis and manage-
CONFLICT OF INTEREST STATEMENT ment. Semin Pediatr Surg. 1996;5(2):95-106.
The authors declare that there is no conflict of interest re- 7. Pomajzl AJ, Sankararaman S. Prune Belly Syndrome. StatPearls;
garding the publication of this paper. 2023.
8. Granberg CF, Harrison SM, Dajusta D, et al. Genetic basis of
DATA AVAILABILITY STATEMENT prune belly syndrome: screening for HNF1beta gene. J Urol.
2012;187(1):272-278.
Data will be made available on request.
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case report. J Pediatr Surg Case Rep. 2015;3(2):65-71.
CONSENT 10. Ngwanou DH, Ngantchet E, Moyo GPK. Prune-­belly syndrome,
Written informed consent was obtained from the patient a rare case presentation in neonatology: about one case in
for publication of this case report and any accompanying Yaounde, Cameroon. Pan Afr Med J. 2020;36:102.
images. A copy of the written consent will be made availa- 11. Leordean V, Lazar D, Trofenciuc M. Morphological aspects in
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Written informed consent was obtained from the patient Morphol Embryol. 2012;53(2):421-425.
12. Kolettis PN, Ross JH, Kay R, Thomas AJ Jr. Sperm retrieval and
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13. Denes FT, Caldamone AAJPSPU. Prune-­ belly syndrome.
ORCID Pediatric Surg. 2023;437.
Siddinath Gyawali https://orcid.
org/0000-0003-0597-0711
Balkrishna Gyawali https://orcid.
org/0000-0002-7863-3428 How to cite this article: Gyawali S, Gyawali B,
Ghimire B, et al. Prune belly syndrome: A rare case
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