Birthmark Has Genetic Ties to Neural Syndrome (CME/CE)
(MedPage Today) -- The same genetic mutation causes both uncomplicated port-wine stains and Sturge-Weber syndrome, which is characterized by the same staining plus leptomeningeal vascular abnormalities, researchers reported.
We report two cases with rare concomitant retinal vascular abnormalities along with SWS. Both the patients had nevus flammeus, hemifacial hypertrophy, and choroidal hemangioma. In one case, retinal cavernous hemangioma was seen in the affected eye. The other case revealed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with choroidal hemangioma.
To identify the current status and major unmet needs in the management of neurologic complications in Sturge-Weber syndrome (SWS).
We present the results of preventive antiepileptic treatment in children with Sturge-Weber syndrome and Tuberous Sclerosis Complex as examples of the possible prevention of epilepsy and epilepsy-associated cognitive impairment in children. PMID: 31166003 [PubMed - as supplied by publisher]
We present a case of a novel restrictive cerebral venopathy in a child, consisting of a bilateral network of small to medium cortical veins without evidence of arteriovenous shunting, absence of the deep venous system, venous ischemia, elevated intracranial pressure, and intracranial calcifications. The condition is unlike other diseases characterized by networks of small veins, including cerebral proliferative angiopathy, Sturge-Weber syndrome, or developmental venous anomaly. While this case may be the result of an anatomic variation leading to the congenital absence of or early occlusion of the deep venous system, the i...
We report a case where magnetic resonance imaging (MRI) was used to aid in radiation target delineation for radioactive eye plaque brachytherapy. A thin-slice orbital MRI enhanced with gadolinium contrast was performed to differentiate the enhanced tumor from the unenhanced subretinal fluid, allowing for hemangioma delineation. Our patient was treated with 35Gy to the tumor apex over four days via radioactive iodine eye plaque. Subretinal fluid in the macula improved within a month and the exudative retinal detachment resolved within six months. There was no recurrence of subretinal fluid at three years. Our case illustrat...
ConclusionsThis study shows good long-term seizure outcomes after hemispherectomy. Seizure freedom has been achieved in the majority of the patients after 3 and 5 years.
CONCLUSION: A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case. PMID: 31111168 [PubMed - as supplied by publisher]
Ellahe Haghani, 37, has Sturge-Weber syndrome, which causes abnormal blood vessels to develop in the skin. Doctors in her native Iran refused to operate over fears she would 'bleed to death'.
Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (a...
To assess utilization of the National Institutes of Health (NIH) Quality of Life in Neurological Disorders (Neuro-QoL) short forms in pediatric patients with Sturge-Weber syndrome (SWS), a rare, neurovascular disorder, which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments.