A 58-year-old male patient with severe claudication due to thrombosis of the left ilio-femoro-popliteal artery aneurysm. He also had a venous stasis ulcer with a history of multiple embolotherapy of arteriovenous malformation. Duplex sonography revealed reflux and varicose veins of the left great saphenous vein (GSV). A sequential bypass surgery was performed that consisted of excision of the left external iliac and common femoral artery aneurysm, external iliac to deep femoral interposition with an expanded polytetrafluoroethylene graft, and femoro-posterior tibial artery bypass with the reversed left GSV. Symptoms of claudication were alleviated and the chronic ulcer was healed in time. To our knowledge, this is the first report of successful bypass in a patient with arterial aneurysm, arteriovenous malformation, and venous insufficiency that can be diagnosed as an atypical case of Parkes Weber syndrome. Long-term follow-up is needed to define the fate of aneurysms and varicose vein graft.
Aneurysm ; Arteries ; Arteriovenous Fistula ; Arteriovenous Malformations ; Embolization, Therapeutic ; Femoral Artery ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Polytetrafluoroethylene ; Popliteal Artery ; Saphenous Vein ; Sturge-Weber Syndrome ; Thrombosis ; Tibial Arteries ; Transplants ; Ulcer ; Varicose Ulcer ; Varicose Veins ; Venous Insufficiency

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.
Arteriovenous Fistula ; Arteriovenous Malformations ; Capillaries ; Clavicle ; Dilatation ; Exome ; Heart Failure ; Hemorrhage ; Humans ; Humerus ; Hyperplasia ; Hypertrophy ; Infant, Newborn* ; Korea ; Lower Extremity ; Magnetic Resonance Angiography ; Port-Wine Stain ; Sturge-Weber Syndrome* ; Subclavian Artery ; Thrombosis ; Upper Extremity

PURPOSE: To characterize the development of glaucoma, age of glaucoma onset, and treatments for patients with a facial port-wine stain (PWS). METHODS: We performed a retrospective analysis of the medical records of 58 patients (116 eyes) with facial PWS between January 2000 and August 2016. We noted patients' age at the initial examination, cup-to-disc ratio, corneal diameter, occurrence of ocular hypertension, development of glaucoma, age of glaucoma onset, and treatments. We compared the clinical features of eyes that developed glaucoma with those that did not develop glaucoma. Among those eyes with glaucoma, we investigated the differences between eyes that underwent surgery and those that did not undergo surgery. RESULTS: Among the 58 patients with a facial PWS (116 eyes), glaucoma was diagnosed in 38 patients (46 eyes; 39.66%). Of these, 26 patients (27 eyes; 58.69%) underwent glaucoma surgery. PWS-associated glaucoma usually developed by the age of 2 years (85.61%). In all patients, glaucoma developed on the same side of the face as the PWS. Of the 58 patients, 19 (32.76%) showed neurological symptoms, including seizures, developmental delays, intellectual disabilities, or hemiplegia, and 32 (55.17%) were diagnosed with Sturge-Weber syndrome. The mean number of glaucoma surgeries was 1.55 ± 0.93. The initial surgery included trabeculectomy (7 eyes), trabeculotomy (5 eyes), combined trabeculotomy/trabeculectomy (13 eyes), and aqueous drainage device insertion (2 eyes). The mean age at the first surgery was 35.14 ± 50.91 months. In 18 of 27 eyes (66.67%), the postoperative intraocular pressure (IOP) was controlled to below 21 mmHg, but 9 eyes (33.33%) showed elevated IOP and required a reoperation. CONCLUSIONS: PWS can be accompanied by ocular hypertension or glaucoma, so patients require regular ophthalmic examinations. When glaucoma occurs, it often does not respond to medication, making it difficult in some cases to control the IOP, so appropriate glaucoma surgery is necessary.
Drainage ; Glaucoma* ; Hemiplegia ; Humans ; Intellectual Disability ; Intraocular Pressure ; Medical Records ; Ocular Hypertension ; Port-Wine Stain* ; Reoperation ; Retrospective Studies ; Seizures ; Sturge-Weber Syndrome ; Trabeculectomy

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.
Arteries ; Constriction, Pathologic ; Humans ; Hypertension ; Hypertension, Renovascular ; Intermittent Claudication ; Intracranial Aneurysm ; Neurocutaneous Syndromes* ; Nevus ; Port-Wine Stain ; Rhabdomyolysis* ; Sturge-Weber Syndrome* ; Vascular Diseases

In some cases, it is difficult to determine a single cause of death even after conducting full autopsy and additional tests. A 49-year-old man, reportedly having diabetes mellitus, was found unconscious by his mother and revealed to be dead. He had several contusions all over his body, including the right periocular area, but they did not appear fatal. A focal area of polymicrogyria and cortical dysplasia was found on the right preoccipital notch, accompanied with dystrophic calcification and leptomeningeal angiomatosis. These findings were considered indicative of Sturge-Weber syndrome, a rare neurocutaneous disorder, of atypical type without facial lesions. Blood level of beta-hydroxybutyrate was 859 microg/mL, implying that he also had diabetic ketoacidosis. His ketoacidosis may not have been corrected appropriately because of status epilepticus in association with brain lesion, resulting in his death, but neither direct evidence nor statement was obtained. In cases with several apparent causes of death, the examiner's assumption should be based not on imagination but on evidence, and logic should not be overlooked. It is more helpful for the investigators or the bereaved to obtain more detailed information rather than come to a hasty conclusion.
3-Hydroxybutyric Acid ; Angiomatosis ; Autopsy ; Brain ; Cause of Death ; Contusions ; Diabetes Mellitus ; Diabetic Ketoacidosis ; Humans ; Imagination ; Ketosis ; Logic ; Malformations of Cortical Development ; Middle Aged ; Mothers ; Neurocutaneous Syndromes ; Research Personnel ; Status Epilepticus ; Sturge-Weber Syndrome*

Issues related to the control of seizures and bleeding, as well as behavioral management due to mental retardation, render dental treatment less accessible or impossible for patients with Sturge-Weber syndrome (SWS). A 41-year-old man with SWS visited a dental clinic for rehabilitation of missing dentition. A bilateral port-wine facial nevus and intraoral hemangiomatous swollen lesion of the left maxillary and mandibular gingivae, mucosa, and lips were noted. The patient exhibited extreme anxiety immediately after injection of a local anesthetic and required various dental treatments to be performed over multiple visits. Therefore, full-mouth rehabilitation over two visits with general anesthesia and two visits with target-controlled intravenous infusion of a sedative anesthesia were planned. Despite concerns regarding seizure control, bleeding control, and airway management, no specific complications occurred during the treatments, and the patient was satisfied with the results.
Adult ; Airway Management ; Anesthesia* ; Anesthesia, General ; Anxiety ; Dental Clinics ; Dentition ; Gingiva ; Hemorrhage ; Humans ; Infusions, Intravenous ; Intellectual Disability ; Lip ; Mouth Rehabilitation* ; Mouth* ; Mucous Membrane ; Nevus ; Rehabilitation ; Seizures ; Sturge-Weber Syndrome*

Issues related to the control of seizures and bleeding, as well as behavioral management due to mental retardation, render dental treatment less accessible or impossible for patients with Sturge-Weber syndrome (SWS). A 41-year-old man with SWS visited a dental clinic for rehabilitation of missing dentition. A bilateral port-wine facial nevus and intraoral hemangiomatous swollen lesion of the left maxillary and mandibular gingivae, mucosa, and lips were noted. The patient exhibited extreme anxiety immediately after injection of a local anesthetic and required various dental treatments to be performed over multiple visits. Therefore, full-mouth rehabilitation over two visits with general anesthesia and two visits with target-controlled intravenous infusion of a sedative anesthesia were planned. Despite concerns regarding seizure control, bleeding control, and airway management, no specific complications occurred during the treatments, and the patient was satisfied with the results.
Adult ; Airway Management ; Anesthesia* ; Anesthesia, General ; Anxiety ; Dental Clinics ; Dentition ; Gingiva ; Hemorrhage ; Humans ; Infusions, Intravenous ; Intellectual Disability ; Lip ; Mouth Rehabilitation* ; Mouth* ; Mucous Membrane ; Nevus ; Rehabilitation ; Seizures ; Sturge-Weber Syndrome*

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.
Arteries ; Constriction, Pathologic ; Humans ; Hypertension ; Hypertension, Renovascular ; Intermittent Claudication ; Intracranial Aneurysm ; Neurocutaneous Syndromes ; Nevus ; Port-Wine Stain ; Rhabdomyolysis ; Sturge-Weber Syndrome ; Vascular Diseases

Child ; Epilepsy ; drug therapy ; Fructose ; adverse effects ; analogs & derivatives ; Glaucoma ; chemically induced ; Humans ; Male ; Sturge-Weber Syndrome ; complications

Sturge-Weber syndrome (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, intellectual impairment, hemiplegia and glaucoma. We report a patient who developed SWS without facial hemangioma (SWS type III) in his adulthood. The patient presented with repeated episodes of headache since age 37 year. He manifested first attack of seizure at the age 47 year followed by aphasia and right upper limb palsy. Brain CT scan revealed right parietal-occipital calcification, brain CT angiography showed right temporal lobe and occipital lobe vascular malformation, and MRI showed leptomeningeal enhancement in the riht cerebral piamater. The seizure was controlled with antiepileptic drugs and reviewed in routine follow up.
Adult ; Angiography ; Anticonvulsants ; therapeutic use ; Brain ; pathology ; Epilepsy ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Seizures ; drug therapy ; Sturge-Weber Syndrome ; pathology