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Kidney Week

Abstract: PO1279

Ruptured Intracranial Aneurysm as the Initial Presentation of ADPKD in a Pediatric Patient

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic

Authors

  • Chedid, Maroun, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Chebib, Fouad T., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Hanna, Christian, Mayo Clinic Minnesota, Rochester, Minnesota, United States
Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is associated with multiple extra-renal manifestations, most notably intracranial aneurysms (ICA). Approximately 10% of ADPKD patients develop ICA during their lifetime. Subarachnoid hemorrhage (SAH) is a major complication of ICA and usually occurs during the end of the 3rd decade. Aneurysm rupture in children <18 years of age is extremely rare. We report a case of a 9-year-old boy presenting with symptomatic ICA rupture as the initial presentation of ADPKD, despite a negative family history of ICA.

Case Description

A 9-year-old boy presented to the emergency department with an abrupt onset of severe headache and lethargy after a fall. His family history was remarkable for ADPKD in his father and grandfather. None of his affected family members developed ICA or intracranial hemorrhage. Initial non-contrast computed tomography scan of the head showed frontal lobe hemorrhage. Additional imaging studies revealed a ruptured anterior communicating artery with SAH. Urgent aneurysm coiling was performed, his bleeding was controlled, and the patient survived. Due to his strong family history for ADPKD, a kidney ultrasound was performed and showed enlarged kidneys with multiple renal cysts bilaterally confirming the diagnosis of ADPKD. The patient’s father underwent a screening MRI of the brain at the age of 48 years and was negative for ICA.

Discussion

Our case of SAH due to ICA rupture as the initial presentation of ADPKD, in the absence of a positive family history of ICA or hemorrhage, has not been reported in children. Rare cases of subarachnoid hemorrhage in pediatric patients with ADPKD and a positive family history of ICA or hemorrhage have been described. Based upon available data, it is unclear if either widespread or targeted screening for intracranial aneurysms is beneficial for pediatric patients with ADPKD. Screening is reserved for patients with a family history of hemorrhage, migraine, stroke, patients undergoing major surgery, or patients with high-risk jobs. However, we do not screen children <18 years of age because of the extreme rarity of aneurysmal rupture at that age. Though extremely rare, primary care physicians and pediatricians should stay aware that ICA rupture occurs in children with ADPKD and can lead to devastating complications, even in the absence of positive family history.