Headache in children with Sturge-Weber syndrome - Prevalence, associations and impact

Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus

“…Medical management of seizures often has to be aggressive, and has included oxcarbazepine, because of a favorable rate of adverse effects reported, 4 in combination with carbamazepine or levetiracetam, particu-larly useful in patients with bilateral brain involvement; in cases when the patients have migraine-like headaches management could be complemented with valproic acid or topiramate. 1,4 Regarding surgical management, it is considered to have prophylactic potential, 16,17 and in up to 50% of the patients, hemispherectomy or a functional hemispherectomy can be performed with great outcomes regarding epilepsy control. 12,16,20 It was not considered in this patient because she had control of her epilepsy episodes.…”

“…Interestingly, patients who started antidepressants had worst cognitive development. 1,6,17 Conclusion SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however, it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better quality of life, a higher cognitive result, and reduced morbimortality.…”

“…Due to the unpredictability of the clinical course of the SWS type III, it is both challenging to diagnose and treat, based on the wide clinical spectrum, because it can start from being asymptomatic or a migraine-like headache, 1 to medically intractable seizures, 18 along with hemiparesis, 5 and cognitive impairment. 19…”

“…Sturge-Weber syndrome (SWS) is a neurovascular condition with a very low incidence, affecting one of 20,000 to 23,000 live-births. 1 This condition derives from a post-zygotic somatic mutation of GNAQ gene, 1 2 located in chromosome 9, 3 responsible for cellular proliferation and inhibition of apoptosis. This gene is mostly expressed in the brain and lung; when is altered, it leads to an uncontrolled tissue proliferation, particularly of the endothelial cells.…”

“…4 Clinical features of this syndrome include postcapillary and venous malformation which might affect different tissues including brain, skin, and eye, 3 producing a classic cutaneous lesion described as Port wine birthmark , usually located in the territory of either the frontonasal prominence with or without compromising the optic vesicle area, 5 seizures, usually focal seizures with or without secondary generalization, moderate to severe headache, and glaucoma. 1 2 Based on the features, Roach classified SWS into three types 6 : type I, which is the most common (classic) presentation including both cutaneous and leptomeningeal capillary malformation (LCM), with or without glaucoma, type II includes the presence of a port-wine stain with glaucoma but without leptomeningeal involvement, and type III, the least common presentation, characterized by LCM without cutaneous or ocular affection. Currently, this type of SWS is considered an incidental diagnosis, and mostly done during adulthood.…”