23 year old multipara female came for for antenatal ultrasound

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Doctor's Information

Name : NISCHAL
Family : KUNDARAGI
Affiliation :SRM UNIVERSITY MEDICAL COLLEGE AND HOSPITAL
Academic Degree : MD, DNB
Email : This email address is being protected from spambots. You need JavaScript enabled to view it.
Resident : DR. S.PRIYADARSHINI

Case Section

Pediatric Radiology

Patient's Information

Gender : Female
Age : 23

Clinical Summary

23 year old multipara female came for antenatal ultrasound scan for her third pregnancy with reduced fetal movements and clinically suspected oligohydramnios. Patient gave a past history of immediate postnatal death of her first baby due to cardiac anomaly and normal 2 year old second baby.

Imaging Findings

Antenatal ultrasound examination revealed severe oligohydramnios with enlarged cystic both fetal kidneys. Multiple variable size predominantly peripherally placed cysts seen in both kidneys (Figure 1A & B). Postnatal ultrasound, MRI, autopsy and histopathology (figure 2 to 5 respectively) were done to confirm and characterise the antenatal findings. MRI and autopsy specimen showed few acute hemorrhagic cysts in both kidneys (Figure 3 and 4B) with T1 and T2 hypointense signals on MRI. Histopathology images of kidneys revealed cystic dilated and non-dilated immature tubules with dysplastic stroma (Fig 5).

Differential Diagnosis

Infantile polycystic kidney disease: AR inheritance with bilateral enlarged echogenic kidneys. Cysts are usually small in sizes. Adult polycystic kidney disease: AD inheritance. One of the parents must show ADPKD. Antenatally fetus may show enlarged echogenic kidneys with randomly distributed cortical cysts. Normal amniotic fluid index (AFI). Meckel-Gruber syndrome: Characteristic triad - Occipital cephalocele, Bilateral renal cystic dysplasia and Post-axial polydactyly. Lethal syndrome with AR inheritance. Bilateral enlarged echogenic kidneys and most cysts are microscopic. Other differentials are - Trisomy 13, Asphyxiating thoracic dysplasia.

Final Diagnosis

Bilateral multicystic dysplastic kidneys (MCDK).

Discussion (Related Text)

The Multicystic dysplastic kidneys (MCDK) or Potter type II, is congenital renal dysplasia where significantly dilated renal tubules appear as cysts. The incidence of MCDKD is about 1 in 5,000-10,000 births (1). In 80% of cases only one kidney is affected. Isolated MCDK may not be associated with chromosomal abnormality; however bilateral MCDK may show chromosomal defects in upto 14.3% of cases. Unilateral MCDK is common in males and bilateral is more common in females. Most of the cases presents as isolated findings, but 20.3% may show other associated renal and non renal anomalies (2). Females with bilateral MCDK have two and four times higher incidence of having associated anomalies and abnormal chromosomal studies respectively (3). During embryogenesis, abnormal differentiation of metanephric tissue and abnormal parenchymal development results in renal dysplasia. However, MCDK may be a late sequelae of early (<10 wks="" and="" severe="" hydronephrosis="" hydronephrotic="" type="" of="" mcdk="" classical="" involves="" entire="" kidney="" segmental="" disease="" usually="" upper="" pole="" may="" suggest="" duplex="" collecting="" system="" 4="" 5="" characterization="" cystic="" renal="" dysplasia="" is="" important="" in="" ultrasound="" usg="" to="" differentiate="" various="" congenital="" anomalies="" associate="" syndromes="" like="" arpkd="" be="" unilateral="" or="" bilateral="" on="" shows="" enlarged="" with="" variable="" size="" macrocysts="" parenchyma="" between="" cysts="" hyperechogenicity="" merge="" one="" another="" wall="" are="" thicker="" than="" polycystic="" diseases="" contrast="" involvement="" will="" almost="" always="" show="" renomegaly="" loss="" cortical="" structure="" tissue="" irregular="" risk="" most="" commonly="" associated="" non-chromosoaml="" va="" c="" ter="" l="" association="" brachio-otorenal="" syndrome="" cerebrorenodigital="" needs="" pre="" postnatal="" follow="" up="" contralateral="" has="" poor="" prognosis="" presents="" non="" functioning="" kidneys="" oligohydramnios="" cause="" death="" due="" pulmonary="" hypoplasia="" 6="" 7="" thus="" incompatible="" extrauterine="" life="" early="" radiological="" diagnosis="" for="" better="" obstetric="" management="" p="">

References

1) Liao LT, Hsieh CH, Chang JC, Chang SY. Bilateral multicystic kidney dysplasia in a fetus with neonatal pulmonary hyaline membrane disease : a Case Report. Changgeng Yi Xue Za Zhi 1997;20:335-9. 2) Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. Al Naimi A, Baumüller JE, Spahn S, Bahlmann F. Prenat Diagn. 2013 Aug;33(8):726-31. 3) Insights into the pathogenesis and natural history of fetuses with multicystic dysplastic kidney disease. Lazebnik N, Bellinger MF, Ferguson JE 2nd, Hogge JS, Hogge WA. Prenat Diagn. 1999 May;19(5):418-23. 4) Jeon A, Cramer BC, Walsh E, Pushpanathan C. A spectrum of segmental multicystic renal disease. Pediatr Radiol 1999; 29 : 309-15. 5) Woodward, Paula J. Diagnostic imaging-obstetrics 1st ed. Salt Lake City, Utah: Amirsys Inc; 2005. 6) Kurjak A, Azumendi G. The fetus in three dimension. 1st ed. Abingdon, Oxon: Informa UK; 2007. 7) Paladini D, Volpe P. Ultrasound of Congenital Fetal Anomalies. 1st ed. London, UK: Informa UK; 2007.