Potter's Syndrome Research Articles

A Suspicion of Potter Syndrome in G4P2A1 at 33 Weeks Gestation with Oligohydramnios and Severe Preeclampsia: A Case Report

A Suspicion of Potter Syndrome in G4P2A1 at 33 Weeks Gestation with Oligohydramnios and Severe Preeclampsia: A Case Report

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6. The predominant phenotype is characterized by early-onset bilateral enlarged kidneys, as well as fibrocystic changes in the kidney and liver. Fetuses or infants usually present with Potter syndrome, and they are more likely to develop severe renal insufficiency. Generally, patients die perinatally or in infancy. Liver involvement has been reported in adults with ARPKD who have survived the neonatal period and childhood. However, renal involvement is rarely expected in adulthood. The case is being presented for its clinical rarity, in addition to emphasize the critical role of NGS approaches in diagnosis.Case presentationWe hereby describe a 33-year-old female with adult-onset proteinuria and nephromegaly. She had a rare homozygous missense mutation of the PKHD1 gene with autosomal recessive inheritance. The proband has consanguineous heterozygote parents. The mutation was identified by whole-exome sequencing, and the results were confirmed by segregation analysis.ConclusionHere, we reported a thorough literature review of late-onset autosomal recessive polycystic kidney disease. Furthermore, we explored the importance of genetic work-up in families with genetic disorders and consanguineous marriages, particularly in underdeveloped countries.

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait

BackgroundAutosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity. This study aimed to explore the genetic landscape of ARPKD in Kuwait and examine the intricate relationship between its genes and clinical presentation to enhance our understanding and contribute towards more efficient management strategies for ARPKD. MethodsThis study recruited 60 individuals with suspected ARPKD from 44 different families in Kuwait. The participants were of different ethnicities and aged 0–70 years. Additionally, 33 were male, 15 were female, and 12 had indeterminant sex due to congenital anomalies. Comprehensive clinical data were collected. Mutations were identified by next-generation whole exome sequencing and confirmed using Sanger sequencing. ResultsOf the 60 suspected ARPKD cases, 20 (33.3 %) died within hours of birth or by the end of the first month of life and one (1.7 %) within 12 months of birth. The remaining 39 (65.0 %) cases were alive, at the time of the study, and exhibited diverse clinical features related to ARPKD, including systematic hypertension (5.0 %), pulmonary hypoplasia (11.7 %), dysmorphic features (40.0 %), cardiac problems (8.3 %), cystic liver (5.0 %), Potter syndrome (13.3 %), developmental delay (8.3 %), and enlarged cystic kidneys (100 %). Twelve mutations, including novel truncating mutations, were identified in 31/60 cases (51.7 %) from 17/44 families (38.6 %). Additionally, 8/12 (66.7 %) mutations were in the PKHD1 gene, with the remaining four in different genes: NPHP3, VPS13P, CC2D2A, and ZNF423. ConclusionsThis study highlights the spectrum of clinical features and genetic mutations of patients with ARPKD in Kuwait. It highlights the necessity for personalized approaches to improve ARPKD diagnosis and treatment, offering crucial insights into managing ARPKD.

Her Legacy Lives On: Celebrating the Women Behind Head and Neck Eponyms.

This article profiles 6 notable female scientists who have had eponyms named after them, highlighting their significant contributions to various medical fields and whose scientific endeavors have influenced our practice and understanding of otolaryngology. We discuss Łucja Frey Gottesman and her description of Frey's syndrome; Margaret Dix and the Dix-Hallpike test; Lotte Strauss and her work defining Churg-Strauss disease; Dorothy Reed Mendenhall's discovery of Reed-Sternberg cells in Hodgkin's lymphoma; Edith Louise Potter defining Potter sequence in utero; Denise Louis-Bar originally characterizing the condition now known as ataxia-telangiectasia or Louis-Bar syndrome. Despite the challenges these women faced as pioneering female physicians as well as personal and political turmoil, their contributions greatly advanced the fields of otolaryngology, neurology, neuropathology, perinatology, and pediatric pathology. We aim to honor their stories and medical legacies.

Coexistence of Ureterocele with a Solitary Kidney in a Nigerian Child: Case Report

Ureterocele is a cystic dilatation in the terminal section of the ureter that is located inside the bladder, the urethra, or both. Renal agenesis refers to a congenital absence of one or both kidneys. If bilateral is referred to as classic potter syndrome, the condition is fatal, whereas if unilateral, patients can have a normal life expectancy. Unilateral renal agenesis affects approximately 1 in 500 live births while bilateral agenesis is less common affecting approximately 1 in 4000 live births. There may be a slightly greater male predilection. Radiographic studies have been valuable in diagnosing and confirming diseases in the genitourinary system. Ultrasonography, intravenous urography (IVU) and computed tomography urography (CTU) has greatly helped in evaluation of patients presenting with renal symptoms/abdominal pains. Our case study is a 9 years old male child who presented to the Radiology department for abdominopelvic CT scan/computed urography (CTU) on account of recurrent abdominal pains of two years. Previous abdominopelvic ultrasound scan done reviewed a solitary kidney with left ureterocele not in our center. However, the CT scan done in our center showed the left kidney with left ureterocele.

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L. We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes. One hundred twenty-seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot. GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants.

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations. The internal and external malformations of two term fetuses with sirenomelia and Potter's sequence were compared using assessment of external features, radiography and MRI on internal structures, and molecular genetic studies on sex determination. Data reveal that both fetuses were male and manifested with an overlapping but distinct spectrum of abnormalities. Principal differences were noted in the development of the ears, brain, urogenital system, lower limbs, pelvis, and vertebral column. Defects of the axial mesoderm are likely to underlie the abnormalities seen in both fetuses. The first one, which had only caudal defects, was found to have a spectrum of abnormalities most similar to those associated with more severe forms of the small pelvic outlet syndrome, although the structure and orientation of the sacrum and iliae were different from previously reported cases. The other had both caudal and cranial defects, and was most similar to those described in the axial mesodermal dysplasia syndrome. Defects associated with sirenomelia can be evaluated with standard gross anatomy examination, radiology, MRI, and modified PCR techniques to determine anatomical abnormalities and the sex of preserved specimens, respectively. Evidence indicated that sirenomelia could be developed via various etiologies.

Autopsy findings in a fetus with monosomy 20 mosaicism

Introduction. Mosaic monosomy 20 is a rare chromosomal aberration, without characteristic clinical features. We present a case of a fetus with monosomy 20 mosaicism revealed after prenatal ultrasound detection of anhydramnios and multiple anomalies. Case outline. The second pregnancy of a 33-year-old woman, was terminated at 23rd gestational week, because of the multiple fetal anomalies and anhydramnios, detected by ultrasound. The autopsy of a female fetus revealed multiple congenital anomalies: ventriculomegaly, bilateral choroid plexus cysts, perivascular gliosis in periventricular region of cerebri, hydropericardium, severe cardiomegaly, severe myocardial hypertrophy, hydrothorax, glandular/canalicular stage of fetal lung development, bilateral renal and ureter agenesis (Potter syndrome), bladder aplasia, agenesis of the uterus, fallopian tubes and proximal vagina and valgus deformity of left foot (pes valgus). Fetal growth was adequate for gestational age with no craniofacial dysmorphia or radiographically visible anomalies of the skeleton, without signs of infection. The umbilical cord was too long for gestational age ? 48 cm. Analysis of fetal karyotype from fetal blood sampling revealed monosomy of chromosome 20 in 10% of analyzed cells in metaphase. Conclusion. Revealing the genetic basis of fetal anomalies is at outmost importance not only for further evaluation of pregnancy, but also for proper genetic informing of patients.

Potter sequence in a newborn with polycystic kidney disease

A rare clinical case of a newborn boy with a diagnosed Potter sequence is presented. The diagnosis was made based on polycystic dysplasia of the kidneys, cysts in the liver, hypoplasia of the lungs and characteristic external signs due to critical oligohydramnios. The child's parents were closely related, which suggested an autosomal recessive form of the disease. The newborn lived for 15 hours, after which the death, developed as a result of respiratory failure, was ascertained.

#3166 RECOGNITION OF RENAL TUBULAR DYSGENESIS IN ADOLESCENT CKD BY BIALLELIC AGT VARIANTS REQUIRED BROAD GENETIC ANALYSIS

Abstract Background and Aims Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare inherited disorder of renal (tubular) development, clinically characterized by fetal oligo-/anuria leading to oligohydramnion and Potter sequence, resulting in high mortality within the prenatal and neonatal period. Variants in genes encoding components of the renin-angiotensin system (RAS) are causative for this disorder. Herein, we report 2 European families with biallelic variants within AGT and aim to provide novel insides into disease understanding. Method The study was approved by our institutional ethics committee (approval number: 251_18 B). Clinical, histological and pedigree analysis were performed. Exome sequencing of a preselected gene panel (nephroma, 560 genes associated with renal disease) was analysed on the HiSeq System 2500 (Illumina) after enrichment by TWIST human core technology (TWIST Bioscience). Immunohistochemistry staining (IHC) and in-situ hybridization (ISH) for expression of renin were performed on kidney biopsy. In addition, renin expression was determined in primary tubular cells of the index patient by qPCR. Allele frequencies of heterozygous and biallelic predicted deleterious variants were determined by analysis of the Genomics England 100,000 Genomes Project. Results The first family was identified after transition from pediatric to adult nephrology at the University Hospital Erlangen. Initially, the male index patient of consanguineous Turkish descent presented with oligohydramnion in the prenatal period. Directly after birth (32nd gestational week) he suffered from profound hypotension, pulmonary hypoplasia and pulmonary stenosis, as well as third degree acute kidney injury leading to ICU treatment, but no need of hemodialysis. He survived the perinatal period while a decline in renal function was observed over time leading to CKD G3b at the age of 19 years. Exome sequencing revealed a previously reported pathogenic homozygous missense variant within AGT (c.1224G>A, p.Arg375Gln). Kidney biopsy at the age of 14 years revealed tubulointerstitial fibrosis, profound glomerulocystic changes with partly glomerulosclerosis and vasculopathic features. IHC and ISH showed recruitment and strong expression of renin in tubular cells and vessels, where cultured primary tubular cells also showed strong expression of renin. Circulating renin was profoundly elevated, with normal levels of aldosterone. The patient is not hypertensive and receives no antihypertensive medications. The family history revealed at least 2 miscarriages due to oligohydramnion. The second family was identified from the Genomics England 100,000 Genomes Project. The male index patient presented with prenatal bilateral hydronephrosis. He was delivered prematurely around the 35th gestational week. Both kidneys suffered from chronic bilateral urinary reflux leading to CKD G2 at the age of 8 years. Family history revealed one prior miscarriage. Genetic analysis revealed two compound heterozygous missense variants within AGT (c.842A>G, p.Tyr281Cys; c.151T>C, p.Cys51Arg). The heterozygous allele frequency in the Genomics England cohort for AGT predicted deleterious variants was very low. Therefore, we would predict a biallelic hit with the respective disease as an ultra-rare event. Reviewing the literature, to our knowledge 18 individuals are reported to date with different biallelic variants within AGT. From these cases only three survived the perinatal period. It is not reported if these individuals reached adulthood. Conclusion We hereby demonstrate two extremely rare cases, affected by biallelic variants within AGT, that survived the perinatal period and eventually led to chronic kidney disease. Since the phenotypes may be variable, a contemporary approach by broad genetic analysis is the only option to decode the genetic background in individuals with a suspected genetic disorder. Upregulation of renin in tubular cells by inactivation of AGT in the germline may drive tubulointerstitial fibrosis, which is a theoretical concern regarding ongoing targeted pharmacological approaches against AGT for arterial hypertension.

Imatinib use in the management of a patient with Doege-Potter syndrome.

Doege-Potter syndromeis a paraneoplastic syndrome characterized by nonislet cell tumor hypoglycemia due to a solitary fibrous tumor, which produces insulin-like growth factor II. In this report, we present the case of a 67-year-old male with recurrent and refractory hypoglycemia due to DPS successfully treated with imatinib. He initially presented with neuroglycopenic symptoms and dyspnea secondary to a giant tumor in the left hemithorax, which was totally resected. During follow-up, 7 years later, he presented with thoracoabdominal tumor recurrence associated with severe hypoglycemia and underwent subtotal tumor resection, with a subsequent improvement of symptoms. The following year, he had a recurrence of his intra-abdominal tumor, which was unresectable, associated with severe hypoglycemia refractory to dextrose infusion and corticosteroids, thus receiving imatinib with a favorable response. The clinical presentation, diagnostic approach, progression of the disease, and response to treatment with imatinib in the management of a patient with large, recurrent, and unresectable mesenchymal tumors with insulin-like growth factor-2 secretion causing hypoglycemiahighlight the importance of this case report. Doege-Potter syndrome (DPS) is a rare cause of tumoral hypoglycemia of non-pancreatic origin. Some malignant or benignant neoplasms have ectopic secretion of insulin-like growth factor-2. Total surgical removal is the principal treatment in patients with DPS. Tyrosine kinase inhibitors management in DPS may contribute to improved tumor control in patients with unresectable tumors and severe hypoglycemia.

Solitary mediastinal fibrous tumor complicated by hypoglycemic crises (Doege-Potter syndrome)

Diagnostic and treatment algorithms for large mediastinal tumors are clear. However, long-term results are not always good. They largely depend on early diagnosis and morphological structure of tumor. Neoplasms may be asymptomatic for a long time, especially in case of slow growth. These tumors are usually diagnosed as soon as complications occur (for example, compression syndrome). Routine X-ray screening is rarer situation. Paraneoplastic syndromes are rare, and some ones are casuistic and unknown to surgical community. We describe the diagnosis and treatment of a patient with giant solitary mediastinal tumor complicated by hypoglycemic crises (Doege-Potter syndrome). This complication was life-threatening and required a multidisciplinary approach. Aggressive surgical approach cured the patient and returned her to normal lifestyle. The proposed algorithm for perioperative drug therapy was effective and deserves attention. This report will be useful for surgeons, oncologists, anesthesiologists, intensive care specialists and endocrinologists.

A case of Potter sequence with WT1 mutation.

Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure develops after birth. We report an unusual case of Potter sequence due to fetal nephropathy and kidney failure with a WT1 mutation. The neonate was born at 37weeks of gestation, and had no distinctive facial appearance or anomalies of the extremities. The external genitalia were ambiguous. Presence of a penile-like structure or hypertrophic clitoris was noted, and the urethra opened at the base of the penis or clitoris. On ultrasonographic examination, the kidney sizes were small. No kidney cysts were noted, but the kidney parenchymal luminosity was increased. Although the neonate received mechanical ventilation because of severe retractive breathing after birth, he died of poor oxygenation due to air leak syndrome at 60h after birth. The congenital anomalies of the kidney and urinary tract (CAKUT) gene panel revealed a heterozygous missense mutation in WT1 [NM_024426.6:exon9:c.1400G > A, p.(Arg467Gln)]. In WT1, missense mutations are associated with earlier onset of nephropathy than nonsense or splicing mutations. However, severe cases of fetal onset and early neonatal death with WT1 mutations are rare, and only one severe case with the same missense mutation in WT1 has been reported. Therefore, WT1 mutation may be suspected in Potter sequence patients with external genital abnormalities, and the WT1 missense mutation in our case [NM_024426.6:exon9:c.1400G > A, p.(Arg467Gln)] may indicate a severe case with fetal onset of nephropathy and kidney failure.

EP26.16: Sirenomyelia associated with lumbar myelomeningocele and Potter facies: report of a rare case and literature review

EP26.16: Sirenomyelia associated with lumbar myelomeningocele and Potter facies: report of a rare case and literature review

Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.

BackgroundAutosomal‐recessive renal tubular dysgenesis (AR‐RTD) is a rare genetic disorder caused by defects in the renin‐angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. Although the most common outcome is neonatal death from renal failure, pulmonary hypoplasia, and/or refractory arterial hypotension; several cases have been reported that describe survival past the neonatal period.MethodsHerein, we report the first family with biallelic ACE variants and more than one affected child surviving past the neonatal period, as well as provide a review of the previously reported 18 cases with better outcomes.ResultsWhile both siblings with identical compound heterozygous ACE variants have received different treatments, neither required renal replacement therapy. We show that both vasopressin and fludrocortisone in the neonatal period may provide survival advantages, though outcomes may also be dependent on the type of gene variant, as well as other factors.ConclusionWhile AR‐RTD is most often a lethal disease in the neonatal period, it is not universally so. A better understanding of the factors affecting survival will help to guide prognostication and medical decision‐making.

Amnioinfusions to Treat Early Onset Anhydramnios Caused by Bilateral Renal Agenesis : Potter’s Syndrome

Introduction: Anhydramnios is a very small amount of amniotic fluid where the MVP measurement is 2cm by ultrasound. The most common cause of anhydramnios that persists into the second trimester of pregnancy is bilateral renal agenesis. Bilateral renal agenesis is closely related to Potter's Syndrome. Potter's syndrome is a picture of reduced amniotic fluid regardless of the cause. The most common cause of newborn death in cases of anhydramnios is pulmonary hypoplasia. Amnioinfusion is an action of adding fluid into the amniotic cavity which is expected to reduce uterine pressure due to anhydramnios and maintain alveolar distension to increase fetal lung growth.Objective: The aim of this case report is to share amnioinfusion on anhydramnios.Case Report: A 26-year-old woman G3P1A1H1 gravid 27-28 weeks was referred to the fetomaternal polyclinic of RSUP M. Djamil Padang with suspicion of anhydramnios caused by bilateral renal agenesis. Physical and obstetric examinations were found to be within normal limits. On ultrasound examination, there was no amniotic fluid, so MVP was difficult to assess, no fetal kidney and bladder were seen, so it is suspected that this is a bilateral renal agenesis disorder and leads to Potter's Syndrome. The patient was subjected to amnioinfusion to prevent contractures and pulmonary hypoplasia in the fetus. From the first amnioinfusion, the MVP increased to 2.99 cm. Monitoring and amnioinfusion are carried out periodically until the fetus is viable to be bornConclusion: Amnioinfusion in bilateral renal agenesis is useful for assisting diagnosis and as a preventive therapy for pulmonary contractures and hypoplasia in the fetus as well as increasing life expectancy when the fetus is born.Keywords: Bilateral Renal Agenesis, Anhydramnios, Amnioinfusion, Potter's Syndrome

Solitary Fibrous Tumour of Liver Presenting as Doege–Potter Syndrome – A Case Report

Background: Doege–Potter syndrome is a rare syndrome which is defined as Solitary fibrous tumour (SFT) that is associated with NICTH (non-islet cell tumour hypoglycaemia). Limited case reports are available on Solitary fibrous tumour of liver presenting as Doege–Potter syndrome in published medical literature. Case report: A 60-year-old female presented with episodic weakness and incoherent behaviour since 3 months and during that episode her serum glucose were low which corrected on glucose administration and abdominal distension for 1 month. Abdominal lump was noted in right hypochondrium arising from liver. On investigation- fasting serum glucose levels, fasting insulin levels and fasting C peptide levels were low and serum IGFII levels were elevated. CT abdomen revealed heterogeneously enhancing solitary lesion of 23 x 18 x 14 cm arising from segment 5 ,6, 7, 8 of liver. AFP, CA19-9 levels were within normal range. Liver biopsy shows spindle cell tumour of fibroblastic origin. Anatomical right hepatectomy with MHV preservation was done. Postoperative course was uneventful with symptomatic improvement, serum glucose levels normalised, and patient was discharged on 8th POD. Discussion: Solitary fibrous tumours are uncommon benign or malignant mesenchymal cell tumours which originate from visceral pleura, pelvis, retroperitoneum and liver. Doege–Potter syndrome which is a rare paraneoplastic manifestation of Solitary fibrous tumour, when there is secretion of prohormone - insulin-like growth factor II (IGF-II), causing hypo insulinemic hypoglycaemia and suppressed serum insulin, C peptide and elevated IGFII/IGFI ratio . Definitive treatment is complete tumour resection.

A case report of Potter’s syndrome in a newborn

Introduction. Potter’s sequence is a very rare and severe syndromic complex that includes congenital kidney defects leading to oligohydramnios, lung hypoplasia and structural skeletal disorders. Clinical case presentation: observation of a boy born from the 5th pregnancy to the mother at 37 weeks. Antenatally, the fetus was found to have bilateral renal and urinary bladder agenesis, malformations of the limbs, but the parents refused to terminate the pregnancy. After birth, the child was diagnosed with Potter’s syndrome with severe hypoplasia of the lungs, which required mechanical ventilation. In 2 hours after birth, the child developed a tension pneumothorax, which was arrested by performing drainage of the pleural cavity. During the day, the patient received complex treatment in the intensive care unit, despite which, by the 2nd day of life, the death of the child occurred. Currently, there are no guidelines for the treatment of Potter syndrome with proven positive long-term outcomes.Discussion. Children with Potter syndrome do not have the same set of symptoms, but they develop a chain of events leading to a common ultimate result - decreased amount of amniotic fluid. Abnormalities leading to oligohydramnios may include severe hypoplasia, dysplasia, polycystic, obstructive uropathy or renal agenesis. In most cases, the disease occurs sporadically, but there are also forms with transmission of the disorder through successive generations: autosomal dominant or recessive inheritance of polycystic disease, hereditary renal dysplasia caused by mutations in RET, UPK3A genes and other chromosomal abnormalities.Conclusion. Potter syndrome is a set of severe syndromes manifested by abnormalities in the development of kidneys, oligohydramnios, leading to lung hypoplasia, skeletal disorders and other congenital anomalies. The severity of congenital defects included in the set depends on the time periods when oligohydramnios occurred. Despite the availability of experimental therapies, the disease is now considered to be fatal.

Renal agenesis

Renal agenesis

First case report of spontaneous perinatal gastric perforation in premature neonate with potter sequence and syndrome.

Introduction and importanceThe Potter sequence is defined as a series of congenital defects related to severe oligohydramnios, associated with polycystic kidney disease, bilateral renal agenesis, pulmonary hypoplasia, obstructive uropathy and premature rupture of membrane, which compromises the life of the neonate sometime after birth. Within the evidence published so far, which is very little, no perforation of the gastrointestinal tract has been reported as a complication of this condition.Case presentationMale neonate born preterm with prenatal diagnosis of pulmonary hypoplasia, polycystic renal dysplasia and severe oligohydramnios (Potter sequence), presented acute respiratory distress syndrome 10 min after birth, requiring mechanical ventilation and admission to the intensive care unit. During her stay in intensive care, he developed abdominal distension and presence of biliary content in the nasogastric tube. An abdominal X-ray was performed and showed signs of pneumoperitoneum, evidencing gastric perforation on exploratory laparotomy.Clinical discussionGastric perforation in neonates is a condition that causes high health costs, morbidity, high risk of mortality and disability, regardless of the cause. The management of gastric perforation in Potter syndrome, as well as any other complication, represents a challenge due to the prognosis of these patients. Renal failure and acute respiratory distress syndrome are disorders that compromise the function of various structures and organs such as the heart and brain.ConclusionGastric perforation is a possible complication of the Potter sequence or syndrome. In addition, there is no literature describing the benefits or disadvantages of specific surgical techniques in the resolution of perforation.