How Sturge-Weber syndrome (SWS) diagnosed?

Updated: Dec 26, 2018
  • Author: Masanori Takeoka, MD; Chief Editor: George I Jallo, MD  more...
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Answer

In young patients, examination under anesthesia or deep sedation is necessary to confirm the diagnosis of glaucoma. Careful assessment in each eye of IOP, corneal diameter, cycloplegic refraction, axial length, and optic nerve cupping, as well as gonioscopic examination, is mandatory.

Cerebrospinal fluid (CSF) protein may be elevated, presumably secondary to microhemorrhage. Note that a major intracranial hemorrhage itself is rare in SWS, although microhemorrhage may be common.

Besides the clinical examination, the following have historically been the procedures of choice to establish the diagnosis of SWS: [1]

  • Skull radiography

  • Angiography

  • Computed tomography (CT) scanning

  • Magnetic resonance imaging (MRI)

  • MRI with gadolinium

  • Functional imaging - With single-photon emission computed tomography (SPECT) or positron emission tomography (PET) scanning


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