#Prognosis Of Antenatal Hydronephrosis

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 Antenatal hydronephrosis is the condition that occurs in the fetus during pregnancy. The condition is characterized by enlargement of the kidney due to the accumulation of fluid. Antenatal hydronephrosis indicates various renal disorders in the fetus. found more in males as compared to females. The condition is It is found in 0.5 percent of females and 1 percent in males. Fortunately, in almost all the case, other organs are not affected due to antenatal hydronephrosis.

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Ureterocele: Symptoms, Causes, Diagnosis and Treatment | Dr. Prashant Jain

Ureterocele

Introduction

A ureterocele is a condition that involves swelling of the terminal end of ureter. Ureter joins the kidney with the bladder. It is formed as aresult of obstruction at the junction of ureter and bladder. The condition can be detected during pregnanacy on antenatal scan. Also it can present with symptoms of urinary tract infection and urinary incontinence.

Ureterocele

The condition can be unilateral or bilateral and sometimes may be associated with duplex system i.e. one kidney is supplied with two ureters. The condion as a result of obstruction can cause hydronephrosis with back pressure changes in kidney.Sometimes it can associated with vesicoureteric reflux.

Symptoms Of Ureterocele

Your child may experience the following symptoms due to ureterocele:

Abdominal pain

Urinary tract infection

Frequent urination

Painful urination

Burning sensation during urination

Fever

Urinary Incontinenece

Causes Of Ureterocele

The exact reason for this condition is not known. The condition may be due to a problem in the development of the urinary system during fetal development.

Risk Factors For Ureterocele

The exact cause of Ureterocele remains unknown. However, certain factors increase the risk of developing this condition. These factors include:

Gender: Girls are at more risk as compared to boys.

Race: This condition is more common in whites as compared to others

Diagnosis Of Ureterocele

Your doctor may diagnose ureterocele through the following methods:

Prenatal scan: The doctor may diagnose this condition before the birth of the child.  During the evaluation for the presence of hydronephrosis, the doctor may diagnose ureterocele through prenatal ultrasound.

Renal bladder ultrasound: Ureterocele normally causes urinary tract infection. Once the doctor diagnoses urinary tract infection in your child, he may advise you for various imaging tests. Renal bladder ultrasound may help in diagnosing ureterocele.

MRI: MRI helps in performing the comprehensive evaluation of the complete urinary system, including the kidneys, ureter, and bladder. The high-quality, detailed images through MRI helps in diagnosing ureterocele.

MAG III Renal scan: The doctor performs this test to determine the functional status of the kidney and to know the obstructive drainage.

Voiding cystourethrogram: During this procedure, the doctor fills the bladder with a solution with the help of a urethral catheter. The doctor takes the images of the bladder with the help of an instrument to determine the presence of ureterocele. The doctor also analyses if the solution is going back to the kidney (vesicoureteric reflux).

Treatment For Ureterocele

The doctor customizes the treatment for ureterocele depending upon various factors. These factors include the severity of the condition, presence of vesicoureteral reflux, size of ureterocele, effect on kidney function, and if the ureterocele extends into the bladder. Following are some of the options for treating ureterocele:

Conservative Management: This is adviced in cases who are aymptomatic without any back pressure changes in kidney.Rest of the cases might require some form of intervention.

Endoscopic ureterocele puncture: Your doctor may perform this procedure soon after birth or when your child is in the infancy stage. The doctor performs this procedure under general anesthesia with the help of a cystoscope. The doctor punctures the ureterocele to ensure the urinary drainage.

Upper pole nephrectomy: If your doctor diagnoses duplex kidney and the upper pole is not performing any function, he may advise you to undergo upper pole nephrectomy. The doctor removes the upper pole of the kidney through minimally invasive surgery.

Ureteral reimplantation: The doctor performs ureteral reimplantation through minimally invasive surgery. The doctor removes the ureterocele and reimplants the ureter to join it with the bladder.

Prognosis Of ureterocele    

Ureterocele has an excellent prognosis. The doctor should diagnose the condition at an early stage to prevent any permanent damage to the kidneys. If the doctor diagnoses the condition at an early stage, even the ureterocele of high severity may be effectively managed. Most children achieve normal urinary function after ureterocele treatment.

Complications Of Ureterocele

Following are some of the complications of ureterocele:

Hydronephrosis: The urine flows back, resulting in swelling of kidneys due to ureterocele.

Vesicoureteral reflux: The urine flows back into the kidneys, thereby increasing the risk of kidney infection and kidney damage.

Kidney stones: Ureterocele may also increase the risk of developing kidney stones.

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Juniper Publishers- Open Access Journal of Case Studies

Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects (OEIS) Complex: About Two Cases and Review

Authored by Ons Cherif

Abstract

OEIS complex (Omphalocele, Exstrophy of the cloaca or the bladder, Imperforate anus, and Spine abnormalities) is a rare defect, without obvious etiology in most cases. We report two cases of OEIS complex, and we propose to review the different causes, the etiopathogenesis as well as the clinical characteristics of this pathological entity by referring to a recent review of the literature

Keywords: Omphalocele; Exstrophy; Imperforate anus; Spine; Infraumbilical mesenchyme, Cloacal septum; Ultrasonography

Introduction

Omphalocele, exstrophy of cloaca or bladder, imperforate anus and spinal defect (OEIS) complex is a clinical entity first described by Carey et al. [1]. It’s a rare congenital defect. The most recent studies report an incidence of 1/200000 [2] to 1/100000 live births [3].

The OEIS complex is usually sporadic and arises from a single localized defect in the early development of the mesoderm that will later contribute to infraumbilical mesenchyme, cloacal septum, and caudal vertebrae [4]. It has no evident etiology. We propose to analyze the different manifestations of the OEIS complex through two observations and a recent review of literature.

Clinical Cases

Observation 1

Mrs I.J, aged 34, was presented at 32 weeks gestation for obstetric ultrasound. Her pregnancy was spontaneous, with normal unwinding. Ultrasonography of the 3rd trimester showed an omphalocele, a short and narrow thorax, lumbar and sacral vertebral abnormalities associated with myelomeningocele, deformity of the lower limbs with no visualization of the bladder.

A male child was born vaginally at 34 weeks gestational age. The birth weight was 2050g, with normal length and head circumference. Multiple anomalies were present at birth including omphalocele, bladder’s exstrophy, imperforate anus, and empty hemi-scrotums with prominent rugated labioscrotal folds (Figure 1). Facial anomalies were observed, including low set ears, deep set eyes, epicanthal folds, and a flat nasal bridge (Figure 2). A skeletal radiograph of the newborn revealed abnormalities in the development of the sacrum (hypogenesis) and the symphysis pubis (Figure 3).

Observation 2

Mrs. S.T, aged 28, was referred for discovery, on morphological ultrasound at 23 weeks of amenorrhea, of an omphalocele. Ultrasound showed a large omphalocele containing the liver, spleen, gastrointestinal tract and heart. The bladder had not been visualized. The kidneys were normal but there was significant bilateral pelvic-calyx dilatation. The amniotic fluid was in diminished quantity. There was myelomeningocele with abnormalities of the lumbar and sacral vertebrae. Both lower limbs were deformed in equinovarus varus foot. The diagnosis was an OEIS syndrome, and a medical interruption of the pregnancy, after discussion and following parental consent, was practiced.

Discussion

The OEIS complex is, in the majority of cases, sporadic, without evident cause. However, some reported cases had in their family index cases with similar malformations or chromosomal abnormalities such as monosomy 1p36 [5].

The clinical manifestations of OEIS complex documented in literature [2,3,6,7] associate gastrointestinal abnormalities (omphalocele, imperforate anus, duplicated colon or intestine, intestinal malrotation, anal atresia, anteriorly placed anus, fistulas, intestinal atresia), urinary anomalies (cloacal exstrophy, renal agenesis or hypoplastic kidney, pelvic kidney, duplicated collecting system, hydroureter or hydronephrosis), genital abnormalities (ambiguous genitalia, small penis and epispadias, abnormal or absent scrotum, cryptorchidism, hypoplastic labia, widely separated labioscrotal folds, bifid uterus, clitoris and labia minora splayed to one side, bifid clitoris, vaginal remnants, absent uterus, vesico-vaginal or recto-vaginal fistula, hypoplastic fallopian tube), skeletal spine abnormalities (hemivertebrae, sacral anomalies with hypogenesis or segmentation), limb abnormalities (arthrogryposis, syndactyly, thumb hypoplasia, club feet, dysplastic or hypoplastic lower extremity, symphysis pubis diastasis, congenital hip dislocation), and neurologic anomalies (tethered cord, spina bifida, Chiari malformation, hydrocephalus, developmental delay).

An accurate prenatal diagnosis of OEIS complex and associated malformations is important for the detailed counseling of the family as well as appropriate perinatal management by the obstetricians, pediatric surgeons, urologists, neurosurgeons, and neonatologists.

The poor prognosis and disappointing results of postnatal surgical treatment should indicate detailed genetic counseling and good awareness in perinatal management.

Conclusion

Antenatal diagnosis of OEIS complex is so important for family counseling as well as adapted perinatal management by obstetricians, neonatologists, pediatric surgeons, pediatric urologists, pediatric orthopedic surgeons and pediatric neurosurgeons.

For more articles in Juniper Publishers | Open Access Journal of Case Studies please click on: https://juniperpublishers.com/jojcs/index.php

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Antenatal Hydronephrosis Treatment In Delhi, India - Dr Prashant Jain

What Is Antenatal Hydronephrosis?

Antenatal hydronephrosis is the condition that occurs in the fetus during pregnancy. The condition is characterized by enlargement of the kidney due to the accumulation of fluid. Antenatal hydronephrosis indicates various renal disorders in the fetus. found more in males as compared to females. The condition is It is found in 0.5 percent of females and 1 percent in males. Fortunately, in almost all the case, other organs are not affected due to antenatal hydronephrosis

How Is Antenatal Hydronephrosis Diagnosed?

Antenatal hydronephrosis is diagnosed through various methods. Some diagnostic techniques involve advanced equipment and may not be available at al the centers for diagnosing this condition. Most cases of antenatal hydronephrosis are found during a routine ultrasound at around 20 weeks gestation period. Following are the methods to diagnose antenatal hydronephrosis:

Laboratory testing: Evaluating the urine sample of the fetus may help in identifying kidney dysfunction or renal dysplasia. Through the ultrasound-guided technique, the urine sample of the fetus is obtained. In the case of a healthy fetus, the urine so formed is hypotonic. However, in a diseased condition, the urine obtained is isotonic. Increased level of calcium, sodium, Microglobulin, and chloride indicates possible renal dysplasia.

Ultrasonography: Ultrasonography was the first diagnostic method that helped in identifying hydronephrosis in the fetus. It also helps in identifying the possible cause of accumulation of fluid in the kidney.

Magnetic Resonance Imaging: Magnetic resonance imaging during pregnancy provides more detailed condition and provide important insight into the severity of the disease. Once the severity is identified, optimum medical interventions can be designed.

Other additional procedures: The procedures that can help in diagnosis include amniocentesis, chromosomal analysis, maternal serum biochemistry, and chorionic villus sampling.

What Are The Various Grades Of Antenatal Hydronephrosis?

The grades of antenatal hydronephrosis are determined by the Antero-posterior diameter (APD) of the renal pelvis. The diameter is evaluated through ultrasonography. The grades or classification of antenatal hydronephrosisis done as mild, moderate and severe. Following are the various grades for antenatal hydronephrosis:

GRADING OF ANHII TRIMESTERIII TRIMESTER

Mild4-< 7 mm7 – < 9 mm

Moderate7 – ≤ 10 mm9 – ≤ 15 mm

Severe>10 mm>15 mm

Almost 57 – 88% of the antenatal hydronephrosis is mild while 10 to 30 % of the cases are of moderate grade. 2-13% of the cases of antenatal hydronephrosis are severe.

What Is The Etiology Of Antenatal Hydronephrosis?

Antenatal hydronephrosis is caused due to the following conditions:

Ureteral obstruction or blockage: This obstruction may be either Ureteropelvic junction obstruction (UPJ) or ureterovesical junction obstruction (UVJ) or megaureter. The UPJ obstruction is indicated when there is a dilation of the pelvic-calyceal system without any ureteral dilation.

Renal anomalies: Generally, only a single ureter drains the urine from a kidney. However, in almost 1 % of the humans, there are two ureters originated from a kidney. This duplication does not cause any complications in the majority of patients. In approximately 1 in 1500 infants, there is an obstruction in the upper tube.

Urethral obstruction: Urethral obstruction in the fetus may also lead to antenatal hydronephrosis.

Vesicoureteral reflux: When there is the backflow of urine from the ureter and bladder towards the kidney, the urine does not flow properly and gets accumulated.

Polycystic Kidney: Due to the complete obstruction of the ureter, one of the kidneys is not normally developed. The other kidney functions normally and the baby usually born with a multicyclic kidney.

What Are The Possible Complications Of Antenatal Hydronephrosis?

If there is a prolonged obstruction of urine and increased pressure, this may cause a progressive reduction in kidney function. Medical interventions may reduce the pressure and allow the kidney to function but may not be able to regain the lost function.

What Are The Treatment Options For Antenatal Hydronephrosis?

No intervention is required in antennal hydronephrosis due to various reasons such as lack of technology for accurate diagnosis, non-identification of the definite reason for the fluid accumulation, and no strong data corresponding to safety and efficacy of medical/surgical interventions. However, a follow-up is required during the post-natal period in infants with varying degrees of antenatal hydronephrosis.

How Postnatal Management Of Hydronephrosis Is Done?

Post-natal management of infants with moderate to severe hydronephrosis is done by identifying the cause of the condition and designing a treatment strategy. KUB ultrasound is done usually 48-72 hours after birth. Antibiotics are administered as prophylactic therapy. Before discharge, complete diagnosis, evaluation, and treatment should be provided to the infant.

What Is The Prognosis Of Antenatal Hydronephrosis?

Most fetuses with antenatal hydronephrosis have an excellent prognosis. The condition resolves on its own in many cases. The morbidity and mortality depend upon various factors such as underlying cause, or whether one or both the kidneys are affected.

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Ureterocele: Symptoms, Causes, Diagnosis & Treatment - Dr Prashant Jain

Introduction

A ureterocele is a condition that involves swelling of the terminal end of ureter. Ureter joins the kidney with the bladder. It is formed as aresult of obstruction at the junction of ureter and bladder. The condition can be detected during pregnanacy on antenatal scan. Also it can present with symptoms of urinary tract infection and urinary incontinence.

Ureterocele

The condition can be unilateral or bilateral and sometimes may be associated with duplex system i.e. one kidney is supplied with two ureters. The condion as a result of obstruction can cause hydronephrosis with back pressure changes in kidney.Sometimes it can associated with vesicoureteric reflux.

Symptoms Of Ureterocele

Your child may experience the following symptoms due to ureterocele:

Abdominal pain

Urinary tract infection

Frequent urination

Painful urination

Burning sensation during urination

Fever

Urinary Incontinenece

Causes Of Ureterocele

The exact reason for this condition is not known. The condition may be due to a problem in the development of the urinary system during fetal development.

Risk Factors For Ureterocele

The exact cause of Ureterocele remains unknown. However, certain factors increase the risk of developing this condition. These factors include:

Gender: Girls are at more risk as compared to boys.

Race: This condition is more common in whites as compared to others

Diagnosis Of Ureterocele

Your doctor may diagnose ureterocele through the following methods:

Prenatal scan: The doctor may diagnose this condition before the birth of the child.  During the evaluation for the presence of hydronephrosis, the doctor may diagnose ureterocele through prenatal ultrasound.

Renal bladder ultrasound: Ureterocele normally causes urinary tract infection. Once the doctor diagnoses urinary tract infection in your child, he may advise you for various imaging tests. Renal bladder ultrasound may help in diagnosing ureterocele.

MRI: MRI helps in performing the comprehensive evaluation of the complete urinary system, including the kidneys, ureter, and bladder. The high-quality, detailed images through MRI helps in diagnosing ureterocele.

MAG III Renal scan: The doctor performs this test to determine the functional status of the kidney and to know the obstructive drainage.

Voiding cystourethrogram: During this procedure, the doctor fills the bladder with a solution with the help of a urethral catheter. The doctor takes the images of the bladder with the help of an instrument to determine the presence of ureterocele. The doctor also analyses if the solution is going back to the kidney (vesicoureteric reflux).

Treatment For Ureterocele

The doctor customizes the treatment for ureterocele depending upon various factors. These factors include the severity of the condition, presence of vesicoureteral reflux, size of ureterocele, effect on kidney function, and if the ureterocele extends into the bladder. Following are some of the options for treating ureterocele:

Conservative Management: This is adviced in cases who are aymptomatic without any back pressure changes in kidney.Rest of the cases might require some form of intervention.

Endoscopic ureterocele puncture: Your doctor may perform this procedure soon after birth or when your child is in the infancy stage. The doctor performs this procedure under general anesthesia with the help of a cystoscope. The doctor punctures the ureterocele to ensure the urinary drainage.

Upper pole nephrectomy: If your doctor diagnoses duplex kidney and the upper pole is not performing any function, he may advise you to undergo upper pole nephrectomy. The doctor removes the upper pole of the kidney through minimally invasive surgery.

Ureteral reimplantation: The doctor performs ureteral reimplantation through minimally invasive surgery. The doctor removes the ureterocele and reimplants the ureter to join it with the bladder.

Prognosis Of ureterocele    

Ureterocele has an excellent prognosis. The doctor should diagnose the condition at an early stage to prevent any permanent damage to the kidneys. If the doctor diagnoses the condition at an early stage, even the ureterocele of high severity may be effectively managed. Most children achieve normal urinary function after ureterocele treatment.

Complications Of Ureterocele

Following are some of the complications of ureterocele:

Hydronephrosis: The urine flows back, resulting in swelling of kidneys due to ureterocele.

Vesicoureteral reflux: The urine flows back into the kidneys, thereby increasing the risk of kidney infection and kidney damage.

Kidney stones: Ureterocele may also increase the risk of developing kidney stones.

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Juniper Publishers- Open Access Journal of Case Studies

Prenatal Diagnosis of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome:Visualisation of Microcolon

Authored by Mamatha Gowda

Abstract

We are reporting a case of Megacystis Microcolon Intestinal Hypoperistalsis syndrome diagnosed prenatally at 25 weeks of gestation. Fetus had bilateral hydronephrosis and megacystis in the presence of polyhydramnios suggestive of non-obstructive Megacystis. There were 2-3 parallelly arranged, elongated tubular structures with highly echogenic wall in the fetal abdomen suggestive of Microcolon. We propose this as an additional sign to be searched for in fetuses suspected to have MMIHS and may be contributory in reinforcing the diagnosis. The newborn delivered at term had severe abdominal distention with hugely distended bladder. Baby succumbed on postnatal day 15 despite palliative ileostomy. MMIHS is a rare disorder with no effective treatment available and has mostly lethal outcome. Prenatal diagnosis is difficult and can be suspected if the fetus shows hugely distended bladder, bilateral hydronephrosis with polyhydramnios suggesting a non-obstructive cause. MMIHS may have genetic etiology with autosomal recessive inheritance, hence subsequent pregnancies need to be monitored with serial ultrasounds.

Keywords: Megacystis Microcolon Intestinal Hyoperistalsis Syndrome; Prune-belly syndrome; Megacystis-microcolon; MMIHS; Hydronephrosis; Bladder outlet obstruction

Introduction

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic disorder with mostly lethal outcome. Prevalence is unknown but has been reported in around 230 patients, of which 71% are females.There are few published reports and series on prenatal diagnosis of MMIHS. Fetal diagnosis is difficult because an identifiable genetic locus is absent and there are no specific ultrasound findings.Prenatal diagnosis may be possible if there is positive family history and ultrasound shows megacystis and bilateral hydronephrosis with increased liquor[1]. The fetus described by us had bilateral hydronephrosis and megacystis at 25 weeks of gestation along with polyhydramnios suggesting a non-obstructive cause. While we were speculating about the possible etiology, presence of few tubular structures with echogenic walls arranged parallel to each other suggesting microcolon in the fetal abdomen reinforced the diagnosis. The term, female baby underwent palliative ileostomy but expired postoperatively.

Case Details

A primigravida was referred in view of a cystic mass in the fetal abdomen at 25 weeks of pregnancy. Ultrasound revealed bilateral hydronephrosis and hugely distended bladder (Figure 1A). There was moderate polyhydramnios with an amniotic fluid index of 25cm suggesting a non-obstructive cause for the megacystis. There were 2-3 echogenic, elongated tubular structures with highly echogenic walls arranged parallel to each other in the fetal abdomen (Figure 1B). These were suspected to be narrow segments of colon probably microcolon. Due to the combination of these findings, a provisional diagnosis ofMegacystis-Microcolon Intestinal Hypoperistalsis syndrome was made. Parents were counselled about the predicted poor prognosis for the fetus. As the gestation had crossed the legal limits for termination pregnancy was continued. Mother presented at 31 weeks of gestation with preterm rupture of membrane which was managed conservatively. She delivered a female baby weighing 2500g at term with an Apgar of 7/8 at 1/5 minutes. Postnatally baby did not pass meconium and there was huge distension of abdomen(Figure 2A). Ultrasound abdomen of the neonate showed bilateral hydronephrosis, distended bladder and collapsed bowel loops. Neonatal echocardiography was done with normal findings. Investigation with barium meal showed microcolon. The baby was operated upon and intraoperatively the bladder was flabby and there was microcolon (Figure 2B). A palliative Ileostomy was done, however the baby expired on postnatal day 15.

Discussion

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder, showing preponderance in females and usually lethal disease during the first year of life[2].Etiology of this disorder which affects the muscle tone in the intestinal and urinary tract systems is unknown but various hypotheses are proposed including genetic, neurogenic, myogenic and hormonal causes. The presence of vacuolation and degeneration in smooth muscle of bowel and bladder wall suggest that the condition could result from an underlying visceral myopathy.The condition is often inherited in an autosomal recessive manner but may follow autosomal dominant pattern too. Heterozygousvariations in ACTG2 gene coding for smooth muscle actin was found in a cohort of 19 patients with MMIHS. Homozygousloss of function variations in MYH11 gene coding for the smooth muscle myosin heavy chain is also a probable causative factor[3,4].

Prenatal diagnosis is difficult and fetuses with MMIHS frequently have megacystis and bilateral hydronephrosis with normal to increased liquor suggesting non-obstructive cause. Enlarged bladder can be observed from the second trimester and polyhydramnios from the third. Few have reported prenatal diagnosis of MMIHS based on fetal magnetic resonance imaging (MRI) in combination with analysis of enzymatic changes. recent analysis of a total of 50 previously published cases of MMIHS revealed that prenatal diagnosis was achieved in 26% of these cases.In 54% of patients with a correct antenatal diagnosis there was a previously affected sibling[5].In the case described by us there was hugely enlarged bladder and bilateral hydronephrosis along with polyhydramnios. We also noticed parallel arrangement of three tubular structures with highly echogenic walls in the fetal abdomen suggesting microcolon. We suggest that this sign, if noticed during prenatal evaluation for suspected MMIHS, could be valuable to reinforce the diagnosis. PostnatallyMMIHS is diagnosed based mainly on clinical presentation and supportive radiological and surgical findings. Neonates present with non-obstructive enlargement of bladder leading to abdominal distension along and signs of intestinal obstruction such asbilious vomiting and failure to pass meconium. There can be other associated anomalies of digestive and urinary tracts such as malrotation of the gut, short bowel, renal dysplasia and cardiac anomalies.MMIHS is frequently confused with chronic idiopathic intestinal pseudo-obstruction, a milder autosomal dominant disorder in which megacystis is also present and with prune belly syndrome[2].

MMIHS has been suggested to have an autosomal recessive inheritance pattern with no specific genes identified as causative, so genetic counseling remains difficult. Prenatal evaluation of subsequent pregnancies by ultrasound in recommended in affected families as the risk of recurrence is 25% in subsequent pregnancies[1]. There was no family history in the present case, however parents were counselled about the possibility of recurrence and the need for ultrasound monitoring of future pregnancies. Till date there are no curative treatment available and palliative care with total parenteral nutrition is required in majority. Various surgical interventions such as gastrostomy, jejunostomy and vesicostomy have been tried but mostly unsuccessful. Multivisceral transplantations have been reported to improve life expectancy. Options for prenatal therapy are also limited as the renal function is well preserved and there is no oligohydramnios, hence no rationale exists for vesicoamniotic shunt.Though survival seems to have improved with specialized care, innovations in parenteral nutrition, and introduction of multivisceral transplantation, the prognosis and life expectancy of this generally fatal disease still remains poor. Death is mainly caused by sepsis, malnutrition or multiple organ failure. The neonate in our case expired within a month after birth despite starting on parenteral nutrition and performing ileostomy[6].

Conclusion

MMIHS is a rare disorder with probable genetic etiology and frequently fatal within the first year of life. Prenatal diagnosis is difficult as no causative genes have been identified so far and ultrasound findings are non-specific. Fetal diagnosis by ultrasound may be possible in the presence of nonobstructive enlargement of bladder, bilateral hydronephrosis with polyhydramnios especially if there is positive family history. It may be possible to identify microcolon as narrow tubular structures in the fetal abdomen. As the condition is frequently inherited in autosomal recessive manner, subsequent pregnancies require serial ultrasound monitoring.

For more articles in Open Access Journal of Case Studies please click on: https://juniperpublishers.com/jojcs/index.php