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Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association
Imed Helal1, Insaf Handous2, Meriam Khadhar1
1Department of Medicine A (M8); Laboratory of Kidney Pathology (LR00SP01), Charles Nicolle Hospital; Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia.
Insights
Autosomal recessive polycystic kidney disease (ARPKD) can lead to intracranial aneurysms (ICA), a rare but serious complication. Early neurological screening for ICA is recommended in ARPKD patients, similar to those with ADPKD.
Area of Science:
- Nephrology
- Neurology
- Genetics
Background:
- Autosomal recessive polycystic kidney disease (ARPKD) is a common childhood-onset ciliopathy.
- Intracranial aneurysms (ICA) are a known complication of autosomal dominant polycystic kidney disease (ADPKD).
- Reports of ICA in adult ARPKD patients are extremely rare.
Observation:
- A 29-year-old male with a history of ARPKD diagnosed at age eight presented with subarachnoid hemorrhage.
- The patient had end-stage kidney disease, severe arterial hypertension, and was on hemodialysis since age 15.
- Computed tomography angiography revealed multiple cerebral aneurysms and subarachnoid hemorrhage.
Findings:
- This case highlights a rare instance of intracranial aneurysms in an adult with ARPKD.
- The patient experienced a ruptured intracranial aneurysm leading to subarachnoid hemorrhage.
- Hepatic fibrosis and nonobstructive intrahepatic bile duct dilatation were noted on investigations.
Implications:
- Early neurological screening for intracranial aneurysms should be considered in patients with ARPKD.
- This screening mirrors current recommendations for ADPKD patients.
- Understanding the association between ARPKD and ICA may improve patient management and outcomes.
Abstract:
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. Intracranial aneurysms (ICA) are a serious complication of autosomal dominant polycystic kidney disease (ADPKD). However, there are only three reports about ICA in an adult patient with ARPKD. We describe a rare case of a 29-year-old man with ARPKD presenting with subarachnoid hemorrhage secondary to a ruptured intracranial aneurysm. The diagnosis of ARPKD was at the age of eight years based on typical ultrasonography findings with polycystic kidneys and liver disease. Magnetic resonance cholangiography showed a nonobstructive dilatation of intrahepatic bile ducts. Liver biopsy showed hepatic fibrosis. None of the family members was affected. At the age of 15 years, he had progressed to end-stage kidney disease, and hemodialysis was started. The patient had always a severe arterial hypertension. At the age of 29 years, he complained of headaches with an uncontrolled hypertension and disturbance of consciousness, computed tomography angiography showed subarachnoid hemorrhage and multiple cerebral aneurysms. Early neurologic screening of intracranial aneurysm should be recommended in ARPKD like in ADPKD patients.
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