Season 1 Case 6
History: headaches (of course)
Answer:
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Answer: Sturge-Weber Syndrome
Sturge-Weber Syndrome (aka encephalotrigeminal angiomatosis) is a phakomatosis, ie part of a group of disorders that affect structure arising from the embryonic ectoderm (ie central nervous system, skin, eyes, etc).
- Rare ~1 in 50,000 people
- Clinically, patients almost always present with a port-wine stain (aka facial nevus flammeus or congenital capillary malformation) in the opthalmic (V1) distribution of the trigeminal nerve
- Often with history of childhood seizures
- Commonly have developmental delay
- Can more prominent neurologic symptoms relating to one hemisphere (ie hemiplegia or hemianopsia)
- Can have occular involvement with choroidal or scleral angiomatosis
Pathology
Pial angiomatosis (vascular malformation) typically along the parieto-occipiatal region leads to increased vascular flow and passive congestion in the cerebral veins. Over time this congestion leads to venous infarctions and loss of parenchymal volume (encephalomalacia).
Radiology
X-rays
- not useful
CT:
- Subcortical calcification - classically in "tram-track" arrangement
- Associated cortical volume loss (since long standing can lead to thickening of the calvarium and enlargement of the sinuses)
- Enlargement of the ipsilateral choroid plexus
- Severe cases can resemble Dyke-Davidoff-Masson Syndrome
WetreadRad
MRI:
- Regional volume loss but normal T1 signal
- T2 signal can be decreased in adjacent white matter = accelerated myelination or calcification
- Contrast demonstrates leptomeningeal enhancement at the pial angiomatosis which tends to decrease over time as underlying parenchyma infarcts
- Look for abnormal deep venous flow voids and communication between the superficial and deep venous drainage systems.
Treatment
Being a congential abnormality, treatment is overall symptomatic with seizure control. Surgerical resent is reserved for severe, nonrepsonsive cases.
Remember that occular involvement is extremely common so opthalmalogic evaluations are extremely important to assess for choroidal hemangiomas and intraoccular hemorrhage
Our Patient
Findings:
- Coarse, "tram-track" calfications in the left occipital lobe
- Left hemispheric cortical volume loss
- ipsilateral choroidal enlargement (maybe?)
- thickening of the left parietal and occipital bones (from early cortical loss)
