Report of a deadly case of potter syndrome: A case report.

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Report of a deadly case of potter syndrome: A case report.
Mehrbano Amirshahi, Mahin Badakhsh*, Zohreh Sadat Hashemi
Department of Midwifery, School of Nursing and Midwifery, Zabol University of Medical sciences, Zabol, Iran
Abstract
Background: Potter’s syndrome is a rare congenital disorder that refers to a set of clinical
manifestations that are associated with oligohydramnios caused by fetal kidney failure. The hallmark of
this syndrome is the special clinical picture that in addition oligohydramnios characteristic with
pulmonary hypoplasia, bilateral renal agenesis; limb deformities and specific face. The embryo dies
before or immediately after birth due to respiratory failure. The aim of this study is to report a fetus
with Potter’s syndrome that was born by vaginal delivery.
Case report: Ultrasound examination of pregnant woman revealed that her male fetus with gestational
age of 25 weeks with Potter’s syndrome and the amniotic fluid index is zero. The mother was
hospitalized in unit labor and delivered in a natural course. The baby had a clinical picture of Potter’s
syndrome and severe respiratory distress and died shortly after birth.
Conclusion: Potter’s syndrome is a very serious condition and most of the time it is deadly. Prenatal
ultrasound by examining oligohydramnios and kidneys helps to diagnose.
Keywords: Potter’s syndrome, Oligohydramnios, Pulmonary hypoplasia, Fetus.
Accepted on February 21, 2019
Introduction
Potter syndrome is a rare congenital malformation that
primarily affects male fetuses and is characterized by
pulmonary hypoplasia caused by renal failure. It was first
reported by Edith Potter in 1946. After the 16th week of
pregnancy, the amount of amniotic fluid depends mainly on the
production of urine by the fetus. During the intrauterine life,
the fetus continuously swallows the amniotic fluid which
returns back to the amniotic sac by the kidneys.
Oligohydramnios occur when the volume of amniotic fluid is
less than normal for that period of pregnancy. This decrease in
volume may be due to a reduction in urine output, secondary to
causes such as bilateral renal agenesis, urinary tract
obstruction, and prolonged rupture of the amniotic sacs. The
fetus urine, essential for the development of lungs, plays its
role in contributing to the development of airways and alveoli,
creating hydraulic pressure, and providing proline, an essential
amino acid for the development of lungs. If the alveoli and as a
result the lungs are not adequately developed at birth, the
neonate will not be able to breathe well and will suffer from
respiratory distress due to pulmonary hypoplasia. Therefore,
secondary to renal failure, pulmonary hypoplasia is the main
cause of death in neonates with Potter syndrome [1,2].
Production of urine by the embryo not only affects the volume
of amniotic fluid, but also preserves the embryo against the
mother’s uterus wall pressure like a cushion. Oligohydramnios
results in a special form of fetus called “Potter facies”, which is
characterized by features such as flattened nasal bridge,
hypoplastic chin, epicanthal folds, cataract, and low-set ears
[3].
The main cause of the Potter syndrome is unknown; this
syndrome has a genetic background in some cases, and is more
common in neonates with a family history of kidney
abnormalities [4]. The syndrome, with an incidence of 1 in
every 2,000 to 5,000 fetuses, is associated with a recurrence
risk of 3-6%, and is found in 0.2-0.4% of autopsies in dead
new-borns or those who die immediately after birth [5].
However, it is believed that the disease may have a higher
prevalence because the affected fetuses are born dead or die
shortly after the birth. There is no known method for
preventing this deadly disease. Therefore, screening ultrasound
is recommended at 16-18 weeks of gestation for mothers with a
positive history of pregnancy for this syndrome aiming to
evaluate oligohydramnios and fetal kidneys. Although this
syndrome has deadly consequences and is not compatible with
life and ends with the baby’s death, the affected fetuses require
resuscitation and treatment of urinary output obstruction at the
time of delivery [6]. The present study aimed to report a fetus
with Potter syndrome that was born through normal delivery.
Case Report
The case was a 25-week-old male fetus with Potter syndrome,
born through normal delivery. The mother was admitted to the
maternity ward of Amir al-Momenin Hospital, Zabol, Iran, on
May 10, 2017 with an ultrasound, which showed the absence
of amniotic fluid and the diagnosis of Potter syndrome for the
fetus. The mother was 24 years old, Iranian, housewife, gravid
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3, and para 1, and had an abortion history at Month 1. She did
not remember the first day of her last menstruation, and her
gestational age was 25 weeks according to the only ultrasound
performed on the same day. She had a normal childbirth
history (her previous child was healthy and had normal
delivery), and had received prenatal care during pregnancy.
Her pregnancy tests were normal. There were no history of
smoking, drugs or alcohol, underlying diseases such as
diabetes, hypertension, thyroid, cardiopulmonary and renal,
infection, and drug use other than routine pregnancy medicines
(iron and vitamin supplements). The mother and her husband
were cousins and she did not mention a family history of a
neonatal birth with a similar disorder. Prenatal serological tests
were negative for syphilis, AIDS, hepatitis B, and rubella. She
had a blood type B positive.
Figure 1. Potter syndrome overall characteristics.
Figure 2. Potter syndrome with imperforate anus.
According to the mentioned ultrasound, the gestational age was
25 weeks, the amniotic fluid index was zero, the fetus kidneys
were invisible in the normal anatomical position, the bladder
was invisible, and there was severe fetal growth restriction and
severe cardiomegaly (more than 80%). The diagnosis was
Potter syndrome based on ultrasound, after which the mother
was taken to the maternity ward.
The mother was hospitalized and, after the normal course of
labor, gave birth to a male new-born through vaginal method.
The boy had growth limitation (800 g birth weight), the clinical
presentation of Potter syndrome, and severe respiratory distress
and died immediately after delivery (Figures 1 and 2).
Discussion
The present study introduced a rare case that has not been
reported in the region so far. It was a fatal case of Potter
syndrome that was born through normal delivery. The
ultrasound of the woman revealed a fetus at 25 weeks of
pregnancy with Potter syndrome and an amniotic fluid index of
zero. The mother was admitted to the delivery unit and the
baby was born vaginally. The new-born with the clinical
presentation of Potter syndrome had severe respiratory distress
and died shortly after birth.
Potter syndrome, first described by Edith Potter in neonates, is
characterized by bilateral renal agenesis or other renal
abnormalities such as aplasia, dysplasia, hypoplasia, or
polycystic kidney disease. It is recognized more in boys with a
male to female ratio of 2 to 1, suggesting the presence of
certain genes on chromosome Y [1]. Potter syndrome can be
seen in neonates with normal kidneys, but the mother had a
chronic and prolonged amniotic fluid leakage during the
middle weeks of pregnancy [7].
In this study, the ultrasound of the pregnant women revealed a
case of Potter syndrome in a male fetus in the 25th week of
pregnancy, a zero amniotic fluid index, and the lack of both
kidneys and bladder. Ultrasound findings of fetuses with severe
kidney disease in 23 families indicated prolonged
oligohydramnios, severe renal dysfunction, and Potter facies,
and the infants died within hours to days after birth. Moreira
and Reuvers also pointed out the birth of fetuses with Potter
syndrome [8,9].
The neonatal features of Potter syndrome include facial
alterations, limb malformations, fetal growth limitation, and
pulmonary hypoplasia, known as oligohydramnios tetrad.
These features arise from fetal compression due to prolonged
oligohydramnios. Potter facies is characterized by
hypertelorism, Mongolian eyelid, epicanthic fold, flattened
nasal bridge and ear lobe, parrot beak nose, low-set ears,
recessed chin, a small fold below the lip, short neck, and extra
chains around the neck. The clinical presentation of the infant
in this study was recessed face, flattened nasal bridge and ear
lobe, parrot beak nose, low-set ears, small, short, and recessed
chin, a small fold below the lip short neck, and extra folds
around the neck, wide hands, hand deviation at wrist, bilateral
valgus, and severe fetal growth limitation, which resulted in a
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birth weight of 800 g. These clinical manifestations were
consistent with Shastry and Al-Haggar [10,11].
The constant pressure of the uterine walls on the fetus chest
wall and the pressure of intra-abdominal organs on the
diaphragm constitute one of the consequences of
oligohydramnios in Potter syndrome, which are also the main
causes of lung hypoplasia and failure in this syndrome. The
severity of the pulmonary hypoplasia depends on the
development phase of lung in which oligohydramnios occurs,
as well as the intensity and duration of the oligohydramnios.
Because of severe respiratory distress and lung hypoplasia,
fetuses are born with dysplastic kidneys or die shortly after
birth [12]. In this study, the amniotic fluid index was zero
according to ultrasonography and the new-born had severe
respiratory distress at birth and died a few moments after birth.
Potter syndrome can be associated with congenital heart
anomalies, gastrointestinal anomalies (such as esophagus
atresia, colonic agenesis, and anal and duodenal
malformations, Meckel’s diverticulum, and pancreatic and
spleen cysts), skeletal disorders, brain abnormalities, and
various associations, such as Vakarl et al. [13]. In the present
study, the ultrasound reported a severe cardiomegaly (more
than 80%) and invisible bladder; and the physical examination
of the neonate revealed limb anomalies and an imperforate
anus.
The main cause of Potter syndrome remains unclear in most
cases, but it has a genetic reason in some cases, and the
inheritance pattern depends on a particular genetic cause.
Genetic abnormalities such as autosomal dominant or recessive
inheritance of polycystic kidney disease, hereditary kidney
dysplasia, caused by RET and UPK3A gene mutations and
chromosomal abnormalities, can result in developmental
abnormalities and lead to Potter syndrome. This syndrome
occurs sporadically but may be inherited when arising from the
autosomal dominant triad. Potter syndrome is more common in
infants who have a family history of kidney abnormalities
[4,7]. No specific cause was found in the present study for this
disease, and there was no family history of renal anomalies.
San and Samal also pointed out the unknown etiology of Potter
syndrome and its genetic reasons in their studies [14,15].
Though the main cause of Potter syndrome is the abnormality
in kidneys development, the initial diagnosis is performed by
ultrasound that can show the loss or absence of amniotic fluid
and the absence of bladder, and is continued through
investigation on the presence or absence of kidneys. Genetic
counseling is important to confirm diagnosis. The
identification of this syndrome, which is characterized by
bilateral renal agenesis, pulmonary hypoplasia, Potter facies,
and limb malformation, can be problematic by ultrasound due
to oligohydramnios [16]. In this study, the ultrasound showed
the absence of amniotic fluid index, invisibility of the bladder,
and bilateral renal agenesis.
Potter syndrome is incompatible with life and has a deadly
prognosis. Pregnancy may be terminated before the fetus
reaches the life stage. The standard pregnancy care does not
change when it is decided to continue the pregnancy [17]. One
of the limitations of the present study was that genetic testing
was not performed, since the parents did not accept autopsy.
In the present study, a mother in her 25th week of pregnancy
with a Potter syndrome fetus, diagnosed through ultrasound,
was admitted to the delivery unit and gave a normal birth to a
baby who died a few moments after birth.
Conclusion
Potter syndrome is a very serious illness and a deadly
condition. Prenatal ultrasound helps detect this syndrome by
examining oligohydramnios and kidney conditions.
Conflict of Interest
The authors declare that they have no conflict of interest
regarding the publication of this case report.
Funding
No funding was sought or secured in relation to this case
report.
Patient Consent
Obtained
Provenance and Peer Review
This case report was peer reviewed.
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*Correspondence to
Mahin Badakhsh
Department of Midwifery
School of Nursing and Midwifery
Zabol University of Medical sciences
Iran
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