Phakomatoses are a group of neurocutaneous disorders characterised by involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin and eyes). Other organs may also be involved

MR spectroscopy - decreased NAA ⁷

DSA - angiography

In most cases (82%) angiography is abnormal and demonstrates absent superficial cortical veins with abnormal and enlarged deep venous drainage ².

Treatment and prognosis

Treatment revolves primarily around seizure control, with surgical resection only indicated rarely in refractory cases. Ophthalmological examination is also essential to identify and treat ocular involvement ⁴. 

Etymology

Sturge-Weber syndrome was first described by Sturge in 1879, followed by Weber and Volland in 1912 who described the intracranial calcification. Radiographic identification of cerebral calcification was first described by Dimitri in 1922 ^2-3. 

• 
  William Allen Sturge - English physician (1850-1919) ³
  
• 
  Frederick Parkes Weber - English physician (1863-1962) ³
  
• 
  Vincente Dimitri - Austrian dermatologist (1885-1955) ³
  

Differential diagnosis

The differential is a combination of that for multiple intracranial calcifications, cerebral hemiatrophy and leptomeningeal enhancement, and therefore includes includes:

• 
  cerebral arteriovenous malformation (AVM)
  
• 
  infection
  
  • 
    TORCH infection
    
  • 
    neurocysticercosis
    
• 
  cutaneous haemangioma–vascular complex syndrome ⁸
  
• 
  healed cortical infarct
  
• 
  radiotherapy