Severe Bilateral Hydronephrosis Research Articles

Outcomes of retroperitoneal fibrosis-related hydronephrosis and its risk factors for poor prognosis: a multi-center retrospective cohort study in Chinese patients

ObjectiveRetroperitoneal fibrosis (RPF) is a rare disease characterized by the presence of fibroinflammatory tissue that surrounds the abdominal aorta and the iliac arteries and often entraps the ureters. Hydronephrosis is a common complication of RPF, however, its clinical features and outcomes have not been well elucidated.MethodsA total of 115 RPF-related hydronephrosis patients have been recruited from 9 clinical centers in China since March 2010. They were followed up until death or September 2021, whichever came first.ResultsThe mean age at diagnosis was 58.83 ± 12.13 years, and 80 patients (69.57%) were men. The median disease duration was 3.00 (1.00, 9.00) months. Renal impairment was observed in 88.35% of the patients, and 49.57% showed bilateral ureteral involvement. Elevated ESR and CRP were presented in 80.28 and 62.02% of the patients, respectively. Overall, 28.21% (11/39) of the patients had increased IgG4 levels, and 41.38% (12/29) showed positive pathological IgG4 staining (IgG4+/IgG+ ≥ 40% or IgG4+ ≥ 10/HPF). Among them, three patients were diagnosed as IgG4RD. After 60.43 ± 34.53 months of follow-up, 36 patients had poor prognosis, which was associated with severe kidney impairment, bilateral hydronephrosis and inflammation status (elevated ESR and IgG) at diagnosis by case–control study. eGFR and creatinine were independent risk factors after adjusting for all other significant associations (p = 0.002 and p = 0.067, respectively). Glucocorticoid-based therapy could reduce the time of stenting, decrease the need for long-term ureteral stenting/percutaneous nephrostomy (PNS)/ureterolysis, increase the rate of mass shrinkage, and reduce the new requirement of hemodialysis compared to surgery-only strategy for RPF-related hydronephrosis patients in need of renal drainage, but did not reduce new-onset renal atrophy.ConclusionSeverity of kidney dysfunction and inflammation status were related to the poor prognosis of hydronephrosis induced by RPF. More efficient interventions and strategies are needed to further improve outcomes.

The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.

Nephrogenic diabetes insipidus (NDI) results from the kidneys' inability to concentrate urine. We describe a 6-month-old male with a history of poor weight gain who presented with an incidental finding of hypernatremia (155mEq/L) during an episode of acute gastroenteritis. The arginine vasopressin (AVP) test, along with molecular analysis revealing the M272R mutation in the AVP receptor 2 (AVPR2) gene, confirmed the diagnosis of congenital NDI. Interestingly, this mutation was also identified in the patient's maternal grandfather, who had never been diagnosed or treated for NDI despite a history of polydipsia, polyuria, and evidence of chronic kidney disease (CKD), severe bilateral hydronephrosis, hypertension, and severe bladder dysfunction. Early intervention with hydrochlorothiazide in the infant resulted in a significant reduction in urinary output and improved growth. The untreated grandfather's case highlights the potential severity of untreated NDI and the benefits of timely therapeutic intervention. This report contributes to the limited long-term data on congenital NDI, emphasizing the critical role of early detection and consistent management in preventing severe complications such as CKD, hydronephrosis, and bladder dysfunction. Regular follow-up, including renal ultrasound and monitoring of renal function, is essential for effectively managing NDI and improving patient outcomes.

Sacral neuromodulation for Organophosphate-induced delayed neuropathy neurogenic lower urinary tract dysfunction: a case report

BackgroundOrganophosphate-Induced Delayed Neuropathy (OPIDN) is a rare neurological disorder triggered by exposure to organophosphorus compounds. These compounds exert their neurotoxic effects by impacting the nervous system, leading to systemic manifestations. Urinary system symptoms are infrequently observed in clinical settings. Currently, effective therapeutic interventions for OPIDN-related urinary symptoms are lacking. Sacral nerve modulation therapy, an FDA-approved approach for managing lower urinary tract symptoms, presents as a promising option. Herein, we present a case of OPIDN-induced lower urinary tract obstruction successfully treated with sacral nerve modulation therapy, resulting in substantial symptom relief.Case reportA 27-year-old male patient presented with severe bilateral hydronephrosis, attributed to low bladder compliance and accompanied by a fever persisting for 6 days. The patient’s medical history revealed accidental ingestion of organophosphate pesticide (Dimethoate) with no concomitant underlying diseases. In consideration of the potential for OPIDN, surgical intervention in the form of sacral neuromodulation (phase I) was undertaken. Subsequent evaluation one month post-surgery revealed notable improvements in both bladder compliance and bilateral hydronephrosis, necessitating sacral neuromodulation (phase II). Presently, following a 5-month follow-up period, the patient remains asymptomatic and in favorable health.ConclusionThis patient achieved long-term relief using sacral neuromodulation.

A Rare Presentation: Male Neonate with Severe Bilateral Hydronephrosis and Normokalemic Acute Renal Tubular Acidosis

A Rare Presentation: Male Neonate with Severe Bilateral Hydronephrosis and Normokalemic Acute Renal Tubular Acidosis

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

Early diagnosis and management of inseparable conjoint twins. A low-middle-income country experience

HIGHLIGHTS Conjoined twins have captivated mankind for centuries due to the rarity of this birth type; nonetheless, physicians have constantly encountered difficulties in dealing with conjoined twins. Early diagnosis of conjoined twins during prenatal examination is critical for ascertaining the prognosis of the fetus, guiding parental counseling over appropriate courses of action, and potentially enabling the termination of the pregnancy. First-trimester ultrasonography and MRI are complementary modalities in determining the diagnosis and prognosis of conjoined twins in early pregnancy. ABSTRACT Objectives: To discuss the crucial early diagnosis of conjoined twins to determine the type and prognosis. Case Report: A 27-year-old woman was referred to the type A referral hospital with suspicion of congenital abnormalities at 17 weeks of pregnancy. Ultrasound results showed intrauterine monochorionic monoamniotic twins with babies fused on their heads to the urogenital part. The MRI showed a craniopagus, suspected meningomyelocele, and severe bilateral hydronephrosis in the second baby. Due to non-separable cases and a bad prognosis for the fetus, the pregnancy was terminated using misoprostol induction and inserting a balloon catheter. The fetus is born weighing 400 g and 20 cm in length. Conjoined twins obtained the rostral type: a fused head with two faces, a fused thorax until the lower abdomen with one umbilicus, and two pairs of hands and feet. The diagnosis of conjoint twins becomes a problem in early pregnancy, mostly in developing countries. Early diagnosis of conjoined twins during prenatal examination is critical for ascertaining the prognosis of the fetus, guiding parental counseling over appropriate courses of action, and potentially enabling the termination of the pregnancy to prevent maternal stress and complications. Conclusion: Conjoined twins should be identified as soon as feasible to establish the best course of management for both mother and fetus. Ultrasonography and MRI are modalities for determining the diagnosis and prognosis of conjoined twins.

Rectal prolapse in a 30-year-old bladder stone male patient: A case report

Rectal prolapse occurs most commonly in children and middle-aged and elderly women and is relatively rare in young men and is occasionally caused by bladder stones. Severe rectal prolapse, bilateral hydronephrosis, and renal insufficiency caused by bladder stones are rare in a 30-year-old man. We report the case of a 30-year-old male patient with cerebral palsy who presented with a large bladder stone that resulted in severe rectal prolapse, bilateral hydronephrosis, and renal insufficiency. Following a definitive diagnosis, the bladder stone was successfully removed, and his kidney function returned to normal. We assessed the patient's nutritional status and stone composition and concluded that the main cause was malnutrition. Rectal prolapse is a rare clinical manifestation of bladder stones, particularly in young adults. Cerebral palsy patients are a vulnerable group in society because of their intellectual disabilities and communicative impairments. Accordingly, besides taking care of their daily diet, abnormal signs in their bodies should receive the doctors' attention in a timely manner.

The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS).

The immunoglobulin-like cell adhesion molecule CLMP is a member of the CAR family of cell adhesion proteins and is implicated in human congenital short-bowel syndrome (CSBS). CSBS is a rare but very severe disease for which no cure is currently available. In this review, we compare data from human CSBS patients and a mouse knockout model. These data indicate that CSBS is characterized by a defect in intestinal elongation during embryonic development and impaired peristalsis. The latter is driven by uncoordinated calcium signaling via gap junctions, which is linked to a reduction in connexin43 and 45 levels in the circumferential smooth muscle layer of the intestine. Furthermore, we discuss how mutations in the CLMP gene affect other organs and tissues, including the ureter. Here, the absence of CLMP produces a severe bilateral hydronephrosis-also caused by a reduced level of connexin43 and associated uncoordinated calcium signaling via gap junctions.

Distal renal tubular acidosis presenting with an acute hypokalemic paralysis in an older child with severe vesicoureteral reflux and syringomyelia: a case report

BackgroundDistal renal tubular acidosis (dRTA) is the most common type of renal tubular acidosis (RTA) in children. Pediatric dRTA is usually genetic and rarely occurs due to acquired issues such as obstructive uropathies, recurrent urinary tract infections (UTIs), and chronic kidney disease (CKD). Although persistent hypokalemia frequently occurs with dRTA, acute hypokalemic paralysis is not frequently reported, especially in older children.Case presentationAn eight-year-old girl presented with an acute first episode of paralysis. A physical examination revealed normal vital signs, short stature consistent with her genetic potential, and decreased muscle strength of her upper and lower extremities. Preexisting conditions included stage 4 CKD due to recurrent UTIs, severe vesicoureteral reflux and bilateral hydronephrosis, neurogenic bladder, and multisegment thoracic syringomyelia. Her laboratory work-up revealed hypokalemic, hyperchloremic metabolic acidosis with a normal anion gap. She also had a urine osmolal gap of 1.9 mOsmol/kg with a high urine pH. Intravenous potassium replacement resulted in a complete resolution of her paralysis. She was diagnosed with dRTA and discharged with oral bicarbonate and slow-release potassium supplementation.ConclusionsThis case report highlights the importance of considering dRTA in the differential diagnosis of hypokalemic acute paralysis in children. Additionally, in children with neurogenic lower urinary tract dysfunction and recurrent UTIs, early diagnosis of spinal cord etiology is crucial to treat promptly, slow the progression of CKD, and prevent long-term complications such as RTA.

Bilateral ureteral lithiasis in a patient with primary hyperparathyroidism

Description of the clinical case: A 62-year-old female comes to our unit with oppressive pain in the bilateral lumbar area. Bilateral ureteral lithiasis was diagnosed those conditions severe bilateral hydronephrosis and it was decided to divert the urinary tract to later perform a definitive treatment. Due to the findings in the laboratory and cabinet studies, primary hyperparathyroidism was diagnosed as the cause of the bilateral ureteral lithiasis. Relevance: The presence of stones indicates the need for parathyroidectomy in patients diagnosed with primary hyperparathyroidism with hypercalcemia or normocalcemia unless there are contraindications. Patients with nephrolithiasis should explore strategies to prevent stone formation even after parathyroidectomy. Clinical implications: The most common consequences of excessive parathyroid hormone secretion are hypercalciuria and kidney stones. They occur in 8-20% of patients with primary hyperparathyroidism and are the most common complication of the disease. They can be silent in 7-11% and bilateral in 16.4% of patients. It is very important to be able to identify patients with this disease to avoid multiple complications. Conclusions: Patients with primary hyperparathyroidism have a high risk of developing kidney complications. We must analyze all the factors that made us suspect in a primary hyperparathyroidism in patients who debut with renal or ureteral stones and thus avoid the recurrence of the same

Newborn/m with bilateral severe hydronephrosis, urinary retention and bladder wall thickening : Preparation for the medical specialist examination: part32

Newborn/m with bilateral severe hydronephrosis, urinary retention and bladder wall thickening : Preparation for the medical specialist examination: part32

Can transient resting of the bladder with vesicostomy reduce the need for a major surgery in some patients?

Neuropathic bladder, voiding dysfunction, and posterior urethral valves may cause a great challenge in children. Preserving the kidney function is the main aim in all of these patients which can be achieved by cutaneous vesicostomy. The objective of this study is to evaluate the long-term outcomes of patients who have undergone cutaneous vesicostomy in an 11-year period at the study center. In this retrospective study, the authors evaluated the long-term treatment results and complications of cutaneous vesicostomy on children with bilateral severe hydronephrosis, bilateral vesicoureteral reflux (VUR), and urosepsis who were operated at our center from 2007 to 2018. There were 64 (80%) boys and 16 (20%) girls. Their mean of age was 15.27 months old when they underwent vesicostomy. Twenty-three (28.75%) of them had neurogenic bladder and 17 (21.25%) of them had intact neuronal pathway defined as dysfunctional voiding. Twenty-five (31.25%) boys had posterior urethral valves. Fifteen (18.75%) of them were younger than six months old with primary bilateral high-grade VUR and urosepsis. Mean of follow-up time was 65.34±37.82 months (11.5 months-10.5 years). Cure rate was 95% in urinary tract infection, 80.7% in secondary VUR, and 40% in primary VUR. Creatinine level was significantly reduced after vesicostomy and during follow-up (P<0.001). Complications after vesicostomy were stoma stenosis (11.25%), mucosal prolapse (7.5%), dermatitis (3.75%), and febrile urinary tract infection (5%). In primary VUR after vesicostomy, 60% of the patients did not require an intervention to correct the reflux (Table). A number of 29 of 66 patients with closed vesicostomy needed another surgery: three modified Gil-Vernet antireflux surgeries, one ureteral reimplantation, two endoscopic Deflux injections, 13 valve ablations, six ileocystoplasties, and four Botox injections. The 37 (56.06%) remaining patients did not require any other surgery after closure of vesicostomy. Vesicostomy should be considered in children with neuropathic bladder or bladder outlet obstruction in case first-line therapies fail. This simple and reversible procedure can reduce febrile urinary tract infections, protect the upper urinary tract, and reduce the need for a major surgery without decreasing the bladder capacity.

Purulent Abdominal Abscess Presented by Hydrometrocolpos in a Newborn

In this study, a 3-day-old newborn with ambiguous genitalia and abdominal mass - the cause of which was not determined in multiple ultrasounds- is introduced. The ultrasound indicated severe bilateral hydronephrosis in the newborn, and based on the results of the tests, the catheterization and VCUG was performed using cystoscopy. According to the results of ultrasound, hydrometrocolpos was suspected for the newborn and surgical procedure was performed. It turned out that the mass was an abdominal abscess filled with pus, and due to its pressure on the urethra, we had to perform nephrostomy on the patient.

Case 1: Term Infant with Intractable Seizures and Bilateral Hydronephrosis

A male neonate is born via vaginal delivery at 37 1/7 weeks’ gestation to a healthy 30-year-old gravida 3, para 2 mother. The pregnancy had been complicated by polyhydramnios, severe fetal hydronephrosis, anti-Kell antibodies, and questionable fetal mega cisterna magna. Labor is induced secondary to worsening bilateral fetal hydronephrosis. The delivery is uncomplicated and Apgar scores are 9 and 9 at 1 and 5 minutes, respectively. Initial physical examination findings are significant only for left-sided club foot, and the infant is admitted to the well-newborn nursery. State newborn screening is performed 24 hours after birth, results of which are normal. There is no significant familial history of congenital neurologic or urologic abnormalities, and both previous children of these parents are healthy. Amniocentesis performed during this pregnancy secondary to the bilateral fetal hydronephrosis had revealed a normal fetal microarray. The infant is admitted to the NICU 3 days after birth secondary to hypernatremia (150 mEq/L [150 mmol/L]) and severe (grade 4) bilateral hydronephrosis confirmed with postnatal ultrasonography. While in the NICU, the neonate is noted to have episodes of lateral eye deviation, bilateral arm and leg twitching, and episodes of apnea. Electrolytes (excluding hypernatremia), glucose, and cranial ultrasonography findings are normal. A sepsis evaluation is completed and the infant is treated for 48 hours with ampicillin, cefotaxime, and acyclovir until blood, urine, and cerebrospinal fluid cultures return negative. Amplitude-integrated electroencephalography (EEG) findings are concerning for seizure activity and video EEG shows frequent multifocal epileptiform activity in both hemispheres indicative of abnormal cortical hyperexcitability, lowering the threshold for seizures. Following consultation with pediatric neurology he receives a loading dose of levetiracetam and maintenance therapy is initiated. Brain magnetic resonance imaging (MRI) reveals trace right occipital subarachnoid hemorrhage and trace infratentorial posterior fossa subdural hematoma thought to be secondary to birth trauma and …

In utero spontaneous bladder rupture in a fetus with posterior urethral valve: A case report of prenatal diagnosis and management

Posterior urethral valve (PUV) rarely causes bladder rupture. We experienced hydronephrosis due to ureteral obstruction after the natural repair of a ruptured bladder in a fetus with PUV. Fetal ascites and oligohydramnios were diagnosed at 26 weeks' gestational age. While we followed up with ultrasonography, we regularly removed the fetal ascites via abdominal puncture, injecting warm saline instead of amniotic fluid. At 35 weeks' gestational age, the infant was diagnosed with severe bilateral hydronephrosis, absent of ascites and oligohydramnios. Therefore, a Caesarean section was performed. After birth, the infant was diagnosed with hydronephrosis due to ureteral obstruction after the natural repair of a ruptured bladder associated with PUV. Thus, a ruptured bladder in a fetus with PUV that has naturally repaired should be closely monitored via ultrasonography for hydronephrosis due to ureteral obstruction.

IMAGING DIAGNOSIS—RADIOGRAPHY AND ULTRASONOGRAPHY OF BILATERAL CONGENITAL URETEROVESICAL JUNCTION STENOSIS CAUSING HYDRONEPHROSIS AND HYDROURETER IN A FERRET (MUSTELA PUTORIUS FURO)

An 8-month-old neutered male ferret was presented for vaccination and preventive treatment for adrenal gland disease. Abdominal ultrasound revealed severe bilateral hydronephrosis and hydroureter. Excretory urography and negative contrast cystography showed bilateral ureterovesical junction stenosis. Positive retrograde cystography demonstrated right ureteral reflux. A subcutaneous ureteral bypass was placed in the left kidney; however, it had to be removed 3 months later due to an obstruction and persistent urinary tract infection. Bilateral ureteroneocystotomy was performed. Although congenital strictures are uncommon in veterinary patients, they should be included in the differential diagnosis in ferrets presenting with hydronephrosis and hydroureter of undetermined cause.

A case of idiopathic diabetes insipidus presented with bilateral hydroureteronephrosis and neurogenic bladder: A pediatric case report and literature review

Diabetes insipidus (DI) is a condition with heterogeneous clinical symptoms characterized by polyuria (urine output >4 mL/kg/hr) and polydipsia (water intake >2 L/m (2)/d). In children, acquired nephrogenic DI (NDI) is more common than central DI (CDI). Diagnosis is based on the presence of high plasma osmolality and low urinary osmolality with significant water diuresis. A water deprivation test with vasopressin challenge, though has limitations, is done to differentiate NDI from CDI and diagnose their incomplete forms. Neonates and young infants are better managed with hydration therapy alone. Older children with CDI are treated with desmopressin (1-deamino-8-D-arginine vasopressin, dDAVP). Its oral form is safe, highly effective and has dosing flexibility. We report a case of an 8-year-old male patient with CDI with severe bilateral non-obstructive hydronephrosis and megaureter. Dramatic clinical and radiological responses to dDAVP treatment were achieved and therapy reduced urine volume and led to marked radiological improvement in hydronephrosis.

Urothelial Defects from Targeted Inactivation of Exocyst Sec10 in Mice Cause Ureteropelvic Junction Obstructions.

Most cases of congenital obstructive nephropathy are the result of ureteropelvic junction obstructions, and despite their high prevalence, we have a poor understanding of their etiology and scarcity of genetic models. The eight-protein exocyst complex regulates polarized exocytosis of intracellular vesicles in a large variety of cell types. Here we report generation of a conditional knockout mouse for Sec10, a central component of the exocyst, which is the first conditional allele for any exocyst gene. Inactivation of Sec10 in ureteric bud-derived cells using Ksp1.3-Cre mice resulted in severe bilateral hydronephrosis and complete anuria in newborns, with death occurring 6–14 hours after birth. Sec10FL/FL;Ksp-Cre embryos developed ureteropelvic junction obstructions between E17.5 and E18.5 as a result of degeneration of the urothelium and subsequent overgrowth by surrounding mesenchymal cells. The urothelial cell layer that lines the urinary tract must maintain a hydrophobic luminal barrier again urine while remaining highly stretchable. This barrier is largely established by production of uroplakin proteins that are transported to the apical surface to establish large plaques. By E16.5, Sec10FL/FL;Ksp-Cre ureter and pelvic urothelium showed decreased uroplakin-3 protein at the luminal surface, and complete absence of uroplakin-3 by E17.5. Affected urothelium at the UPJ showed irregular barriers that exposed the smooth muscle layer to urine, suggesting this may trigger the surrounding mesenchymal cells to overgrow the lumen. Findings from this novel mouse model show Sec10 is critical for the development of the urothelium in ureters, and provides experimental evidence that failure of this urothelial barrier may contribute to human congenital urinary tract obstructions.

Twin Pregnancy of a Complete Hydatidform Mole and a Co-existent Fetus: A Very Rare Case Report

Dear Editor; Molar pregnancy is a disorder of chorionic villi including trophoblastic proliferation and villous stromal swelling. One case of molar pregnancy is reported per 1500-2000 pregnancies in USA. Studies showed that the incidence of hydatiform mole in Asia, Africa and Central America is more than USA, Europe and Australia (1). Hydatiform mole is classified to partial (PM) and complete (CM) mole regards to the histopathology examination (2). Suspicion arises when an ultrasound reports a fetal pole associated with an abnormal placenta. (3) Twin pregnancy of a complete hydatiform mole and a natural fetus is a rare condition and accounts for one in 22000 to one in 100000 of pregnancies. Its importance is regards to the significant increased risk of pregnancy complications like preterm labor; making decision about the true management is much harder due to the probable viable fetus(3, 4). In this paper we present a case of molar pregnancy with a co-existence abnormal fetus. A 23-years-old nulliparous woman was referred to our academic hospital with acute vaginal bleeding at 29th week of gestation, no pain and leaking was mentioned. She had a history of severe hirsotism and oligomenorrhea and previous hospitalization because of high blood pressure about two weeks ago (pre-eclampsia was ruled out at that time).Her husband had a family relation with her. In general appearance she had a marked edema in face and extremities. Fetal Heart rate (FHR) was134 beat/min and mother blood pressure (BP) was measured as 140/100 mmHg. She was diagnosed as having severe pre-eclampsia. Laboratory tests were as followings: Urea = 16 mg/dl, Creatinine = 0.8 mg/dl, Uric acid = 5.1 mg/dl, AST = 25 U/L, ALT = 29 U/L, Alk.P = 600 U/L, Hb = 12.2 gr/dl, HCT = 37%, platelet = 230000/microL, INR = 1, PT = 12 s, PTT = 33 s, Mother blood group = O+ Her ultrasound reported (at the 3rd month) molar changes and the second Ultrasound examination at this admission showed a hypervolumic placenta. Polycystic Ovary Syndrome (PCOs) was diagnosed regards to the clinical manifestations and laboratory testing. Pregnancy termination was suggested but she wanted to save the baby. Induction of labor with oxytocin was started, and she was transferred for cesarean section due to the arrested labor. Placenta showed molar changes in histopathologic examination and the female baby had a distended abdomen, severe bilateral hydronephrosis was reported in ultrasound due to the bilateral congenital polycystic kidney disease (PKD). Neonate was admitted to the pediatric referral hospital and a unilateral nephrostomy was done but she died after 3 days. Twin pregnancy of a complete hydatidform mole and a co-existent fetus is one of the rare occurrences in the literature. Most symptoms are similar to a singleton hydatiform mole, including vaginal bleeding, failure of appropriate uterine growth and hypertension or pre-eclampsia in the first or second trimester (3). Some probable risk factors are mentioned in hydatidform mole but long term studies are needed to be confirmed (1). However, our patient had a history of oligomenorrhea and hirsotism and PCOs was diagnosed. None of the other studies we reviewed mentioned these symptoms neither the familial relationship between the parents. These could be hypothesized as probable risk factors. Makrydimas et al reported a case of singleton pregnancy with a phenotypically normal fetus in which diffuse changes of complete mole were present in the placenta. The fetus was normal at birth and developed normally at 15 months (2). In our case, the fetus had abnormality in prenatal ultrasound and abdominal distension at birth and died after 3 days. Hamanoue et al also reported a twin pregnancy with complete hydatiform mole and preterm labor of a normal neonate (4). Other studies that reported twin pregnancy with hydatiform mole, mentioned a normal fetus such as Papoutsis et al, that reported a partial mole pregnancy with a chromosomically and phenotypically normal embryo, and Copeland et al who had reported dizygotic twin pregnancy with a normal fetus and partial hydatiform mole (5, 6). One of the noticeable facts in studies reviewed was the gender of the fetus which was female. Studies revealed a connection of partial moles with male fetus (1). It could be concluded that such cases of molar pregnancy as a twin to normal or abnormal fetus could be an area of interest in gynecology field and its etiology could be further studied.

Fetal megacystis as a prenatal challenge: megacystis–microcolon–intestinal hypoperistalsis syndrome in a male fetus

The prenatal detection of megacystis is only the first step towards identifying the etiology and deciding on suitable treatment for this condition. Here we present a report highlighting the difficulties in the prenatal diagnosis of this severe fetal anomaly. A 28-year-old healthy primigravida was referred at 24 weeks' gestation to a tertiary hospital after an ultrasound scan at 18 weeks revealed megacystis and unilateral hydronephrosis in a male fetus with normal karyotype. On referral, a further ultrasound examination revealed a large bladder with a dilated posterior urethra (the ‘keyhole sign’) and normal wall thickness. Based on these findings, posterior urethral valves (PUV) syndrome was first suspected. Following weekly clinical and ultrasound surveillance, a progressive and unexpected increase in the amniotic fluid index (AFI) was observed in the third trimester, with polyhydramnios and grade IV hydronephrosis (Figures 1 and 2). These findings were suggestive of the rare megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS). At 32 weeks' gestation, fetal magnetic resonance imaging (MRI) showed a dilated bladder measuring 135 × 111 × 86 mm that was compressing the abdominal organs, and severe bilateral hydronephrosis (21 mm right and 18 mm left); in addition, the stomach was clearly visible, but not the intestines (Figure 3). Vesicocentesis was performed for fetal urinalysis (sodium, potassium, calcium, phosphorus, creatinine, urea, total proteins and β2-microglobulin), and amniocentesis for evaluation of digestive enzymes (including γ-glutamyl transferase, alkaline phosphatase and biliary salts); findings from these tests were consistent with MMIHS. A Cesarean section was performed at 33 weeks, after spontaneous rupture of membranes. The neonate weighed 2950 g and had Apgar scores of 8 and 8 at 1 and 5 min, respectively. During the neonatal period the diagnosis was confirmed, and vesicostomy and total parenteral nutrition were needed. At 12 months, the infant had normal physical and neurological development, but still needed parenteral nutrition and vesicostomy. MMIHS is a rare congenital disease with fewer than 200 cases described in the literature, most of whom died in the first year of life1-4. It is characterized by a functional neonatal bowel obstruction with dilated small bowel, microcolon and non-obstructive urinary bladder distension. The etiology of the disease is unknown1-3. The prenatal sonographic features of MMIHS include megacystis, hydronephrosis, hydroureters, normal or decreased AFI in the second trimester, and polyhydramnios, intestinal and/or stomach dilatation in the third trimester1, 5-9. The fetal sex should also be considered, because MMIHS occurs 3–4 times more frequently in females2-5, 8, 9, although, as our case shows, the diagnosis should not be ruled out in male fetuses. The presence of oligohydramnios, progressive bladder wall thickening, hydronephrosis, echogenic kidneys and dilated posterior urethra are more suggestive of obstructive uropathy caused by a distal urethral obstruction such as PUV5, 9-11. For this reason, amniotic fluid analysis and fetal urinalysis are also helpful in the prenatal diagnosis of MMIHS6, 9, 12, as elevated digestive enzymes and high calcium levels, respectively, can be indicative of the disease6. Fetal MRI may also improve the diagnosis, especially when upper gastrointestinal tract distension (esophagus, stomach or small bowel) and microcolon are observed13. Despite the absence of pathognomonic findings of this rare syndrome, prenatal diagnosis is mandatory for optimal counseling and postnatal treatment.