Had a patient come in with an interesting diagnosis a while back that I thought I would share about… what it’s supposed to look like and what I saw in the case I had.
The patient came in with an unrelated treatment diagnosis, but then I saw Sturge-Weber Syndrome in the history and I said to myself, “What is that?” To Google I went. With the help of our friends at the National Organization for Rare Diseases and the Sturge-Weber Foundation I learned the following.
Sturge-Weber Syndrome (SWS) is a random genetic mutation that cannot be inherited. Symptoms vary widely and involve the vision, neurologic and integumentary systems. There are 3 variants: Type 1= skin and neurologic symptoms, type 2=skin and vision, type 3= neurologic only. Usually the skin abnormality presents as a facial port-wine birthmark limited to one side and the vision as glaucoma. Sometimes the soft tissue under the port-wine stain becomes hypertrophied as well. Other visual deficits that a therapist might see (but not all possible) are optic nerve atrophy, hemianopsia (loss of vision in half the visual field) and, cortical blindness. Neurological symptoms can include: seizures, hemiparesis on the side opposite the port-wine stain birthmark, cognitive deficits/developmental delays, and headache/migraine. These folks are also at higher risk than average for strokes, behavioral problems, and mood disorders. Other non-grouped symptoms can include: hypothryoidism, and lymphatic malformations. Sometimes any of the symptoms may not even present until later on in life!
The patient I had presented just like a hemiparetic stroke. If I hadn’t known about the history of SWS, I would have assumed late-effects of a stroke. The patient had hemiparesis, hypertonicity with minimal spasticity on the left side and a right sided facial port-wine stain that covered the upper two-thirds of the face. So I would assume this patient had type 1.
File that one away in the back of your brain. Never know when you’ll need to pull it out of the cobwebs!