Pseudotumor cerebri syndrome in a child with Alagille syndrome: intracranial pressure dynamics and treatment outcome after ventriculoperitoneal shunting

• DOI: 10.1007/s00381-021-05043-9
• Publication Date: 2021-02-09T13:40:00Z
• Authors: Manolis Polemikos; Elvis J. Hermann; Hans E. Heissler; Hans Hartmann; Joachim K. Krauss
• Keywords: Alagille Syndrome; Pseudotumor cerebri; Acetazolamide; Papilledema; Shunting; Presentation (obstetrics)

Abstract Alagille syndrome (AS) is a rare multisystem disease of the liver, heart, eyes, face, skeleton, kidneys, and vascular system. The occurrence pseudotumor cerebri (PTCS) in patients with AS has been reported only exceptionally. Owning to its rarity mostly atypical presentation, diagnosis natural history affected remain uncertain. We report an case PTCS 4-year-old boy known who presented bilateral papilledema (PE) on routine ophthalmological examination. Visual findings deteriorated after treatment acetazolamide. Continuous intracranial pressure (ICP) monitoring was then utilized investigate ICP dynamics. Successful resolution PE achieved ventriculoperitoneal shunting but relapsed due growth-related dislocation ventricular catheter. This brings new insights into dynamics resulting this possibly underdiagnosed subgroup patients. It also demonstrates that can provide long-term improvement symptoms for more than 10 years.