Severe Intracranial Hemorrhage in a Newborn with Autosomal Recessive Polycystic Kidney Disease

Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive inherited developmental kidney disorder characterized by bilateral cystic dilatation of renal collecting ducts. The liver is always affected, with various degrees of biliary dysgenesis and periportal fibrosis. Intracranial aneurysms (ICA) can be associated with autosomal dominant polycystic kidney disease (ADPKD) in 5-10% of the cases, but extremely rarely with ARPKD. We described a full-term male infant with ARPKD born with an extremely distended abdomen and anuria. Bilateral nephrectomy and open liver biopsy were performed during the first month of hospitalization, as well as the insertion of a peritoneal dialysis catheter. On the 59th day of life, the baby`s condition abruptly deteriorated and he showed a decreased level of consciousness, coma (GCS=3), and severe anemia. Head ultrasound and head CT scan revealed large hemorrhage in the left cerebral hemisphere. Hemostasis parameters, as well as clinical and laboratory signs of infection, were in referral ranges at the time of neurological deterioration. MRI showed large hemorrhages in the left ventricle and left cerebral hemisphere but a preexisting intracranial aneurism (ICA) in the site of hemorrhage could not be diagnosed for sure. The baby died on the 66th day of life.