Intern Seminar Presenter: intern 傅蓓安 Supervisor: 杜依芳 醫師 http://jolarsenburnett.blogspot.tw/ Date: 2016/08/26

Basic Information Name: 陳O辰 Chart No.: 1279XXXX Age: 7 years old

Recurrent but transient stroke-like episodes and seizures 2008 (Birth) 2010 (2y/o) 2015 (7y/o) Recurrent but transient stroke-like episodes and seizures Diagnosed with Sturge-Weber syndrome, with congenital glaucoma

Falling event, vomiting, fever with URI Sx 2016 05/08 05/15 Falling event, vomiting, fever with URI Sx Conscious disturbance, left side weakness, complex partial seizures GCS E3V1M4 Muscle power: RUL/RLL 3-4/3-4, LUL/LLL: 1/1 DTR: all +, Babinski sign: -/- CT: no ICH

T1 3D T2 Flair

DWI ADC

muscle power recovered 2016 05/08 05/15 muscle power recovered LUL/LLL: 2/4

Head trauma(-), vomiting, fever with URI Sx 2016 07/21 08/01 Head trauma(-), vomiting, fever with URI Sx Conscious disturbance, slurred speach, right side weakness, complex partial seizures GCS E4V4M5 Muscle power: RUL/RLL 1/1, LUL/LLL 3/3 DTR: all ++, Babinski sign: -/- Dysphagia

T1 3D with contrast T2 Flair

DWI ADC

Muscle power improved on day 7 RUL/RLL: 3/3 before discharge 2016 07/21 08/01 Muscle power improved on day 7 RUL/RLL: 3/3 before discharge Dysphagia improved on day 11

Conscious disturbance Head contusion Conscious disturbance vomiting hemiparesis URI seizure

Discussion Sturge-Weber syndrome (SWS) & Its stroke-like episode http://jolarsenburnett.blogspot.tw/ Sturge-Weber syndrome (SWS) & Its stroke-like episode

Outline Overview of Sturge-Weber syndrome Risk factors associated with its stroke-like episode Prevention and control for stroke-like episode

Overview of Sturge-Weber syndrome Congenital vascular malformation disease 1/20,000-50,000, sporadic Neurocutaneous syndrome Leptomeningeal angiomatosis Facial cutaneous vascular malformation (port-wine stain) [1]Pediatr Neurol 2004;30:303-310, [2] EJPN 18(2014)257-266

Leptomeningeal angiomatosis Arachnoid mater Pia mater

Facial cutaneous vascular malformation (port-wine stain) Occuring in 0.3% live birth If PWS involving entire CN V1 distribution  78% with neurological/ocular disorders

Pathogenesis of SWS GNAQ gene single-nucleotide mutation (c.548GA, p.Arg183Gln) ? Failure of primitive cephalic venous plexus to regress in first trimester NEJM 2013;368:1971-9

Pathogenesis of SWS Ectoderm forming upper portion of facial skin Neural tube forming parietal-occipital brain

Atrophy /dystrophy Lack of superficial cortical veins Ischemia CBF↓ Venous stasis Venous outflow ↓ High flow to deep venous system

Neurological complication in SWS Stroke-like episode Stroke-like episode Seizure Mental retardation Behavioral problem

Stroke-like episode in SWS Transient focal deficits Hemiparesis, visual field defect Duration: days, weeks, or months

Causes for stroke-like episode Venous stasis Venous thrombosis Stroke-like episode Seizure Head trauma

Causes for stroke-like episode Venous stasis Venous thrombosis Stroke-like episode Seizure Head trauma

DWI ADC The Neurologist 2009;15: 351–354

Possible risk factors causing venous stasis Prothrombotic status Drugs Parameningeal infection (ear, sinus, mouth, face and neck) Local compression Intracranial hypotension Other systemic diseases (SLE, nephrotic syndrome, thyroid disease…) Stroke. 2011;42:1158-1192

Causes for stroke-like episode Venous stasis Venous thrombosis Stroke-like episode Seizure Head trauma

Seizure & stroke-like symptoms left Rt ↓43%, Lt ↓18%, Left Rt↑57%, Lt ↑166% Developmental Medicine & Child Neurology 1999, 41: 480–485

Causes for stroke-like episode Venous stasis Venous thrombosis Stroke-like episode Seizure Head trauma

Head trauma & stroke-like symptoms Case series of 6 patients Hypothesized mechanism: 1. Cerebral edema 2. Vascular leakage induced hemiplegic migraine Developmental Medicine & Child Neurology 2007, 49: 697–699

Prevention of stroke-like episode Control of stroke-like episodes is key for preventing neurological injury progression Rehab/adaptive training

Prevention of stroke-like episode Low-dose antiplatelet Venous stasis Venous thrombosis Stroke-like episode Seizure Head trauma

Stroke-like episodes: 1.1  0.3/month J Child Neurol. 26(6) 692-702

Side-effect n=9 Bruising Epitaxis n=6 No side-effect n=58 J Child Neurol. 2013 February ; 28(2): 213–218

Prevention of stroke-like episode Venous stasis Venous thrombosis AED Seizure Stroke-like episode Operation Head trauma

Anti-epileptic drug (AED) Prophylactic AED was not recommended BZD  phenytoin Fever control Good hydration Good oxygenation Sleep hygiene Eu J Ped Neurol. 18(2014)257-266

Epilepsy surgery Lesionectomy, hemispherectomy 7-8% SWS patients received surgery

Prevention of stroke-like episode Venous stasis Venous thrombosis Seizure Stroke-like episode Head trauma Head protection

Venous stasis/ thrombosis Back to our case Vaccination, antipyretics, hydration Head contusion Vomiting URI protection Venous stasis/ thrombosis Stroke-like episode Seizure AED Low-dose antiplatelet Surgery

Q &A Thanks for listening