title: Idiopathic intracranial hypertension in two patients with Alagille syndrome.
abstract: Alagille syndrome is an autosomal dominant condition with incomplete penetrance that is associated mostly with hepatic, cardiac, and skeletal abnormalities. In addition, the association of Alagille syndrome with ocular abnormalities is well known and is considered one of the characteristic features of this condition. Most commonly, posterior embryotoxon, glaucoma, or retinopathy has been identified in these children. The authors present 2 patients with Alagille syndrome who, before the age of 3 years old, developed idiopathic intracranial hypertension with documented increased intracranial pressure by lumbar puncture and papilledema, which was responsive to acetazolamide.
authors.affiliation: Department of Pediatrics, Penn State Children's Hospital, Penn State University, Hershey, PA, USA.
authors.forename: Marialena
authors.initials: M
authors.lastname: Mouzaki
authors.forename: Charles
authors.initials: C
authors.lastname: Nichter
authors.forename: Muhammad
authors.initials: M
authors.lastname: Qureshi
authors.forename: Bart
authors.initials: B
authors.lastname: Rountree
authors.forename: Katryn N
authors.initials: KN
authors.lastname: Furuya
mesh_terms: D000086:Acetazolamide / Q000494:pharmacology / Q000627:therapeutic use; D017668:Age of Onset; D016738:Alagille Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D015170:Cerebrospinal Fluid Pressure / Q000502:physiology; D002675:Child, Preschool; D004232:Diuretics / Q000494:pharmacology / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010211:Papilledema / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology*; D011559:Pseudotumor Cerebri / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D013129:Spinal Puncture / Q000379:methods
chemical_list: D004232:Diuretics; D000086:Acetazolamide