Pseudotumor cerebri in a patient with Goldenhar's and Duane's syndromes.
A 4-year-old boy presented with Goldenhar's syndrome, Duane's syndrome and bilateral papilledema. Magnetic resonance imaging of the brain was unremarkable. On lumbar puncture, the cerebrospinal fluid (CSF) pressure measured 36 cm H(2)O. CSF examination was normal. The diagnosis of pseudotumor cerebri was made, and treatment with acetazolamide was started. As the papilledema did not resolve, steroids were added to the treatment. Lumbar puncture was repeated after 1 month, and pressure was found to be 30 cm H(2)O. Because medical treatment was not effective in lowering the CSF pressure, optic nerve sheath fenestration was performed. Papilledema resolved over the next 2 months. To the best of our knowledge, this is the first case of Goldenhar's syndrome associated with pseudotumor cerebri.
Department of Ophthalmology, Kantonsspital Aarau, Switzerland.
Oliver
O
Tillman
Hedwig J
HJ
Kaiser
Hanspeter E
HE
Killer
D000086:Acetazolamide / Q000627:therapeutic use; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use; D015170:Cerebrospinal Fluid Pressure; D002675:Child, Preschool; D004370:Duane Retraction Syndrome / Q000150:complications* / Q000473:pathology / Q000628:therapy; D006053:Goldenhar Syndrome / Q000150:complications* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath; D009900:Optic Nerve / Q000601:surgery; D010211:Papilledema / Q000209:etiology / Q000628:therapy; D011559:Pseudotumor Cerebri / Q000150:complications* / Q000473:pathology / Q000628:therapy
D002257:Carbonic Anhydrase Inhibitors; D000086:Acetazolamide