Intracranial Hypertension & Papilledema with Alagille Syndrome

NM Rock et al. JPGN 2020; 71: 655-662. Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome

Key findings:

  • In this retrospective cohort of 69 patients, Nine (13.0%) had papilledema and Five (7.2%) had confirmed or probable intracranial hypertension. All five had undergone liver transplantation.
  • Age (in months) when intracranial hypertension was diagnosed: 35, 43, 55, 62, and 103.

Discussion Points:

  • “Cerbrovascular abnormalities, including moyamoya disease, are increasingly describe in patients with” Alagille syndrome.
  • “Opthalmic complications in relation with papilledema seem to appear mostly after” liver transplantation. This could indicate that LT/immunosuppression exaccerbate underlying disorder, that those who need LT have more severe phenotype or could be related to closer scrutiny (‘follow-up bias”).
  • First line treatment for intracranial hypertension in this group is generally acetazolamide.

My take: I agree with the authors who propose regular eye exams for patients with Alagille syndrome, especially if needing liver transplantation. Further evaluation is recommended for patients who have greater than mild papilledema. This includes MRI and lumbar opening pressure.

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