Tuesday, May 3, 2016

Sturge- Weber syndrome

Hello

Talking about this rare syndrome, I read about in ophthalmology lecture (class of secondary glaucomas) today... So let's start with it-
- It is also known as Encephalo Trigeminal  Angiomatosis (ETA)
• Rare congenital Neurological and skin disorder (phakomatoses)
• Caused by Somatic Acivating Mutation in GNAQ gene.

Port -wine stains (nervus flammeus) - 
            ○ Usually seen on Forehead and Upper Eyelid of one side of face; present since birth.
            ○ Light Pink to Deep Purple
            ○ Caused by Overabundance of capillaries  around Ophthalmic branch of Trigeminal nerve.

• Associated with
          ○ Secondary Glaucoma (in 50% patients)
          Buphthalmos (enlarged eyeball due to increased intraocular tension)
          ○ Leukocoria (white pupillary reflex)
          Neurologic manifestations- seizures, convulsions (on side of body opposite to birth mark), mental retardation, calcification of tissue and loss of nerve cells in cerebral cortex.
          Ipsilateral Leptomeningeal Angioma (on same side of birth mark; calcification of underlying brain and atrophy of affected region)
Malformed blood vessels in the piamater overlying the brain on same side of head as the birthmark.

Radiological appearance shows Tram-Track Appearance on CT, bilaterally.

Treatment strategies include Laser surgery, Hemispherectomy
 - Latanoprost, a Prostaglandin analogue, is suitable drug for decreasing intra ocular pressure. (1 drop daily in evening)

That's all
- Jaskunwar Singh

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