Autosomal recessive polycystic kidney disease associated with severe hydrocephalus
Diagnosis almost certain
Presentation
Pregnant female presented for anomalies screening
Patient Data
Age: 40 years
Gender: Female
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Fetal MRI has done at 26 weeks of gestational age shows :
- bilateral enlarged fetal kidneys filling the abdominal cavity, they show hyperintense cortex with an innumerable small cysts
- severe oligohydramnios
- decrease thoracic size
- enlarged fetal head largely replaced by a disproportionate severe ventriculomegaly, thinned cortical mantle, effaced peri-cerebral space, cortical mantle dehiscence, and occipital meningocele
Case Discussion
The coincidence development of the central nervous system and the renal system lead to some association between the CNS and kidneys anomalies. ARPKD may be associated with many CNS anomalies such as holoprosencephaly, hydranencephaly, and internal hydrocephalus.