 And now two pediatric patients with seizures and diminished mental acuity. Let's have a look. A contrast-enhanced coronal T1MR with gyroform enhancement in one cerebral hemisphere, a different patient with some hypo intense signal peripherally in the left parietal occipital region. The patient is obviously young and is not completely myelinated. The same patient demonstrates an axial contrast-enhanced image with prominence in the region of the left coroid region delimited by an arrow. Perhaps you'll figure out what that means. On the right, a non-contrast CT with a surpigenous gyroform area of increased density. Two T2-weighted images, one axial, one coronal, demonstrating some hypo-intensities and perhaps a little more prominence once again within the ventricular system. Both images. Let's pursue our questions. If you want to look some more at the case and toggle back and forth, you can, but I'm going to go to question number one. The most likely diagnosis is A, Weiber-Mason syndrome. B, Sturge-Weber syndrome. C, Hereditary-Hemorrhagic-Telenjectation. D, Mifuchi syndrome. E, Gorlin's syndrome. Question number two. The primary lesion in Sturge-Weber is best described as A, Arturovenous malformation of the leptomeninges face coroid of the eye. B, Cavernous mixed malformation of the leptomeninges face coroid of the eye. C, Telenjectatic venous angiomas of the leptomeninges face coroid of the eye. D, Sinus thrombosis with collaterals of the leptomeninges face coroid of the eye. And E, Dural and Peele AVFs of the leptomeninges face coroid of the eye. Question number three, which is untrue or false regarding Sturge-Weber. A, Facial Nevisflameous mental retardation and seizures equals the triad. B, Peripheral Meningeal Calcification. C, Portwine-Stain Pathognemonic of Sturge-Weber. D, Encephalo-Trigeminal angiomatosis highlights trigeminal association. E, Facial and or Intracranial and or Eye are primary areas of involvement. Question number four, which of the following is not true, e.g. false regarding Sturge-Weber. A, usually unilateral. B, usually supertintorial cerebral much more common than cerebellar. C, neurologically normal at birth. D, seizures in early life before 24 months. E, abnormal cerebral arteries. F, impaired cortical venous drainage. Question number five, which is false. A, Facial Angioma usually present at birth. B, Lepton-Meningeal Angioma. C, seizures. Mental decline usually begins in the first 24 months. D, Angiomatous Overgrowth of Soft Tissue and Bone of the Head. E, Ipsilateral Cerebral Atrophy with Calcification and Ipsilateral Somatic or Body Atrophy with Pneumocyanus Dilitans. Question number six, which is not one of the orbit eye signs of Sturge-Weber syndrome. A, Small Eye or Microaphthalmia. B, Large Eye or Ox Eye, Bufalmus. C, Congenital Glaucoma. D, Coroidal Angiomas and Angiomatous Overgrowth of the Extraocular Muscles. E, Episcleryl Telingectasia. Let's return now to our images so we can make some informed decisions regarding our answers together. Let's work our way backwards. Our coronal and axial T2-weighted images show prominent veins centrally, but also an area of chunky intermediate signal intensity in the right atrium of lateral ventricle related to the venous drainage of this abnormality to be discussed. And it is a venous abnormality, a venous telingectasia. As part of this entity, one may see calcification in a gyroform pattern that is most commonly in the parieto-oxypetal or occipital lobe. It's present. On the axial contrast-enhanced MR, although the condition is classically unilateral, it can involve both sides of the brain but has a predilection for leptomeningial involvement, a leptomeningial venous telingectasia that circumscribes the brain the parieto-oxypetal distribution usually unilateral but sometimes bilateral. Let's keep going, shall we? Two different patients. One on the viewer's right involving the patient's left demonstrates an area of hypointensity which can represent a combination of flow phenomenon and or citerosis from small areas of micro hemorrhage. More on this in the study guide. On the viewer's left, but the patient's right, there is cerebral atrophy, one of the choices. There may be enlargement of the cranial vault, although that is hard to appreciate at this juncture. There is a gyroform peripheral leptomeningial unilateral pattern of enhancement. So now let's go back to our first question. The most likely diagnosis is Sturgy Weber syndrome or Sturge Weber syndrome. Wyburn Mason syndrome, choice A, is a series of arteriovenous malformations that involve the brain and the visual pathway to be discussed. B, Sturge Weber is the correct choice. Hereditary hemorrhagic telenjectasia, which consists of a series of low flow state vascular anomalies, affects the nose, the brain, the lungs, the liver, but is rarely, if ever, isolated to the leptomeninges. It doesn't have this classic pattern. Mofuchi's syndrome, this is a condition where the patients develop multiple hemangiomas, not vascular telenjectages of the leptomeninges. And Gorlin's syndrome or basal cell Neva syndrome is associated with intracranial neoplasms and various skeletal manifestations. Question number two, the primary lesion in Sturgy Weber is best defined as, the answer is C, telenjectatic venous angiomas of the leptomeninges face and coroid of the eye. The rest of the choices are not the spot on choice, and specifically sinus thrombosis with collateral is a totally inappropriate choice. Dural and peel ABFs or arteriovenous fistulas of the leptomeninges is a totally inappropriate choice. The rest of the choices, while not as inappropriate, are not great choices either. Which is untrue or false regarding Sturgy Weber? The answer is C, the port wine stain is pathognomonic of Sturgy Weber. That is false. A port wine stain can be seen in other entities, other syndromes, although a port wine stain in the first trigeminal nerve distribution should suggest a diagnosis of Sturgy Weber and a search with a brain MR or CT. It is not pathognomonic. The rest of the choices are true. Facial, nevus, flameus, mental retardation and seizures equals the triad of this condition which is also known as encephalo-trigeminal angiomatosis that highlights the trigeminal association D, which is a correct answer, or true answer. B, peripheral meningeal calcification, that is also a true answer. And facial and or intracranial or eye are primary areas of involvement. That is also a correct, true answer. So the one that is untrue or false is C. Read the question carefully. Question four, which of the following is not true, e.g. false regarding Sturgy Weber? The answer is abnormal cerebral arteries. It is a peripheral. Lepton meningeal. Venous telenjectasia. It is a venous abnormality, not a cerebral arterial abnormality. Choice F, there is impaired cortical venous drainage. Choice D, seizures in early life before 24 months, that is true. Neurologically normal at birth, that is true. Most often supertentorial in the cerebrum, although posterior near the cerebellum, not in the cerebellum, cerebral much greater than cerebellar. And it is usually unilateral, although we did show you an example of some scant bilaterality, which is false. Question number five, the answer is e. It's a difficult question. Ipsilateral cerebral atrophy with calcification absolutely is part of Sturgy Weber syndrome. But ipsilateral somatic atrophy of the body is not. Pneumocynus delitans is not associated with Sturgy Weber. It is associated with the entity known as Dyke-Davidoff-Mason syndrome. Question number six, which is not one of the orbit eye signs of Sturgy Weber? It's another tough question. I know you're not ophthalmologist, but the answer is microaphthalmia. The others are associated with Sturgy Weber. Euthalamus, or oxi, congenital glaucoma, caroidal angiomas, and angiomatous overgrowth of the extraocular muscles and episcleryl telangiectasia are part of the syndrome complex. Let's take a look at the visual facial manifestations of Sturgy Weber. This young man demonstrates a portynevis in the trigeminal distribution primarily in the first and second division with a little bit of third division involvement in the right side of the face. On the other hand, this unfortunate child has bilateral Sturgy Weber syndrome, but is more affected on the left side where there is overgrowth of the left eye, euthalamus, or oxi, formation. This axial gross specimen demonstrates the venous telangiectasia that coats the surface of the brain. On the left side, the patient's left, your right, associated with generalized atrophy of the entire cerebrum. This angiogram demonstrates the venous components of this disorder as opposed to the arterial, and the histology confirms of venous etiology as does the photomicrograph, showing veins on the surface of the brain rather than arteries. Atrophy of one side of the brain, calcium in the superficial portion of the brain on calcium staining on a gross pathologic specimen. And finally, this red, almost nevisflameous type appearance of the retina and coroid is typical of the vascular abnormalities associated with Sturgy Weber syndrome. Now let's talk a little bit further about the disorder in general. Sturgy Weber syndrome, or Sturge Weber syndrome, also known as encephalo trigeminal angiomatosis, has a sketchy inheritance. It is one of the fecomatoses that is not inherited as an autosomal dominant, for almost all the others are. An important little pearl if you're taking an exam. The main abnormality is a telangiectatic venous angioma of the leptomeninges, face and coroid of the eye, as was one of your choices. The condition was described as early as 1879, a long time ago. And there's a long history which you can read about in the study guide if you wish. The typical triad of a facial nevisflameous, particularly in the trigeminal distribution, with seizures and mental deficiency, is well described. But don't confuse this peripheral entity with luxury perfusion from venous seclusion as in venous thrombosis, or in patients who have ischemia with reactive luxury perfusion or hyperemia, the so-called IV sign, seen on CT, with Sturge Weber syndrome. You saw in the left cerebral hemisphere an area of hypointensity related to flow or perhaps a small microbleed, but don't confuse this with the syndromes that may produce diffuse leptomeningial citerosis, such as a subarachnoid hemorrhage from an aneurysm. Another condition that can give you this peripheral gyroform pattern of hypointensity is neurocutaneous melanosis, a fachomatosis of sorts. This is a congenital syndrome where there are large, multiple melanocytic nevi of the skin, as well as benign or malignant melanocytic nevi of the meninges with high T1 and low T2 signal. But the distribution in the parietal occipital region so typical of Sturge Weber, not typical or pathognemonic of this melanocytic condition, meningiomatosis or multiple meningiomas, Hamartomatous proliferation of meningial cells via parenchymal blood vessels that extend into the cerebral cortex is associated with a peripheral thick, fibrotic pattern of serpigenous leptomeningial tissue that like Sturge Weber may calcify. It is a much rarer entity. It is thicker. It is fatter. It is more mass-like. They look like multiple meningiomas. Wyburn-Mason syndrome, one of your choices. This is a rare, non-hereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits, and facial structures. So there is some similarity with Sturge Weber syndrome, but it is classified as a craniofacial arterial venous malformation. It is a metameric syndrome. The facial vascular nevus, the visual pathway and orbital involvement may suggest the diagnosis of Sturge Weber syndrome, but the presence of an arterial venous malformation, intracranially, is a giveaway to the diagnosis of the rare Wyburn-Mason syndrome. Now, one thing the Wyburn-Mason syndrome and Sturge Weber have in common is they both have very obtuse, ill-defined Herodin's pattern. Another peripheral pattern of hypointensity may be seen as an artifact. This is known as the bounce point artifact. It is a mismatch of the TR or repetition time and the TI or inversion time on either a flare or a long-time T1 inversion recovery image. It is only present on the inversion recovery images peripherally and then disappears on the spin echo non-IR images. Sturge Weber has some variants. You can have facial intracranial involvement without eye involvement, intracranial and eye involvement without face involvement. You can have intracranial involvement of the cerebrum and leptomeninges alone. Clipple Trinone Weber shares some features with Sturge Weber syndrome, but the abnormalities are extracranial involving the soft tissues. The manifestations of Sturge Weber include the classic triad. It usually begins in the first 24 months of life, but the patients are usually neurologically normal at birth. There may also be angiometous overgrowth of the soft tissues and bone of the cranium or head. There is ipsolateral cerebral atrophy with calcium as you saw on your imaging. There may be contralateral, not ipsolateral somatic atrophy. Ipsolateral somatic atrophy was one of your incorrect choices. The port wine stain or the facial nevus flameus blanches with pressure. It's in the trigeminal dermatome, either V1, V2, or V3. Not everyone with a port wine stain has Sturge Weber syndrome. The association of a port wine stain with Sturge Weber syndrome is associated with a more extensive, larger port wine stain that includes the medial canthus of the eye and the first and second division of the trigeminal nerve. In other words, a more pathognemonic port wine stain is one that's bigger, that involves more than one branch of the trigeminal nerve, usually V1 and V2, and extends to the medial canthus of the eye. This has greater specificity for Sturge Weber syndrome. I'm sure you know that Time Magazine's Man of the Decade in the 1980s and Time Magazine's Man of the Year in 1987, Mikhail Sergeyevich Gorbachev had a port wine stain, making it pretty famous. That concludes our discussion of Sturge Weber syndrome. We'll see you next time. I'm Dr. Stephen Pomerance. Have a great day.