Dear Editor,
Sturge–Weber syndrome (SWS) is a neurocutaneous syndrome that has a heterogeneous spectrum of manifestations, characterized by facial port-wine stain (PWS) within the trigeminal nerve distribution, ipsilateral leptomeningeal angiomatosis, glaucoma, seizures, stroke-like episodes, hemiparesis, and intellectual disability.[1,2] The diagnosis is based on clinical presentation and cranial imaging features.[1,3] The treatment is challenging, and a multidisciplinary approach is required to control ophthalmic, neurological, and dermatological manifestations.[1]
A female baby was born at full term by vaginal delivery with normal birthweight and exhibited an extensive PWS involving almost the entire face, scalp, and nuchal regions [Figure 1]. When the baby was 27 days old, she experienced a seizure while in the hospital for her ophthalmology evaluation. Two electroencephalograms (EEG) revealed basal activity, which appeared diffusely disorganized due to an increase in slow waves, low rhythmic amplitude, and low reactivity. Additionally, epileptic paroxysms were evident in both exams: on the left temporal and right frontal regions in the first EEG and rarely on the right hemisphere in the second EEG (two weeks after the first exam). Cranial magnetic resonance (T1-weighted imaging) displayed diffuse and symmetric leptomeningeal enhancement (leptomeningeal angiomatosis) [Figure 2]. The patient also suffered from bilateral glaucoma. On the neurological aspect, despite treatment with high doses of anticonvulsants (phenobarbital 5.4 mg/kg/d, phenytoin 5 mg/kg/d, valproic acid 50 mg/kg/d, and levetiracetam 60 mg/kg/d), the patient continued to present generalized tonic–clonic seizures. Over six years, various anticonvulsants were prescribed, but due to treatment refractoriness, new seizures, and neural injury occurred, leading to developmental delay, intellectual disability, and the necessity of gastrostomy and tracheostomy. An adverse effect of the therapy was gingival hyperplasia [Figure 3]. Unfortunately, the patient passed away at the age of six years due to sepsis.
Figure 1.
Bilateral port-wine stain involving the trigeminal nerve distribution of the face, scalp, and nuchal regions when the patient was three months old
Figure 2.
Coronal and sagittal views in cranial magnetic resonance (T1-weighted) imaging showing bilateral and diffuse leptomeningeal enhancement
Figure 3.
Gingival hyperplasia when the patient was a six year old
SWS is a congenital disorder with variable clinical presentations. A mutation in the GNAQ gene appears to be the major genetic factor in SWS.[2,3] SWS is classified into type I (facial and leptomeningeal angioma with possible glaucoma), type II (facial angioma without evident endocranial involvement), and type III (exclusive leptomeningeal angioma).[2,4] According to this classification, our case would be compatible with type I, with a severe and rare clinical presentation. Jagtap et al.[2] published a review of 30 patients diagnosed with SWS; only two (8%) presented bilateral PWS as our patient. Recently, Pathak et al.[4] reported one patient with bilateral PWS but smaller leptomeningeal involvement. Seizures are often the first presenting neurological symptom in SWS, mostly during the first two years of life.[2] Contrast-enhanced studies are the most accurate imaging studies, and the classic sign of brain disease is the leptomeningeal enhancement in T1-weighted imaging, which was massively present in our patient.[1,2] Treatment options to control epilepsies are different associations of anticonvulsants, hemispherectomy, focal cortical resection, and vagal nerve stimulation.[1,2] A surgical approach was not possible due to uncontrolled seizures due to diffuse leptomeningeal involvement. The treatment of port-wine stain can be done with a pulsed-dye laser (PDL) and/or topical rapamycin to reduce neoangiogenesis, which was unavailable in our department.[3,5]
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Conflicts of interest
There are no conflicts of interest.
Acknowledgments
We thank the Pediatrics Department and the Dermatology Department of the Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Brazil.
Funding Statement
Nil.
References
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