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Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder characterized by the presence of port-wine stains (PWS) and ophthalmologic complications, including glaucoma and choroidal hemangiomas. These manifestations result from somatic mutations in the GNAQ gene, leading to vascular malformations that affect both the skin and ocular tissues. This review aims to evaluate the impact of laser treatment for PWS on ocular manifestations in SWS, considering both clinical outcomes and underlying biological mechanisms. PWS are common in SWS patients and significantly impair quality of life (QoL) and necessitate effective treatment strategies. Pulsed dye laser (PDL) therapy, which targets the abnormal blood vessels within PWS, has been established as an effective method for reducing the size and appearance of these stains. Clinical studies suggest that PDL therapy not only improves dermatologic outcomes but may also have possible association with ocular vascular dynamics such as reducing intraocular pressure and ameliorating choroidal hemangiomas. The review evaluates data from various studies and highlights changes in intraocular pressure, the incidence of glaucoma, and modifications in choroidal hemangiomas following laser treatment. Mechanistic insights suggest that laser therapy may improve dermatologic and ocular symptoms by modulating sebaceous gland activity and enhancing the skin's barrier function, thereby indirectly affecting ocular health. Additionally, the review discusses the safety profiles of different laser systems, the importance of multidisciplinary care, and the need for standardized treatment protocols to minimize risks and optimize patient outcomes. Integrated dermatologic and ophthalmologic care remains crucial in improving the overall health and QoL for patients with SWS.

PURPOSE: To report the multimodal imaging characteristics and successful non-surgical intraocular pressure (IOP) control with bimatoprost in a 7-year-old boy with Sturge-Weber syndrome (SWS)-related glaucoma and diffuse choroidal hemangioma (DCH). METHOD: Case report with multimodal imaging including ultra-widefield fluorescein angiography, indocyanine green angiography, B-scan ultrasound, ultrasound biomicroscopy (UBM), and cranial MRI. RESULTS: A 7-year-old boy with facial port-wine stain (V1 distribution) presented with right ocular distension and IOP of 36 mmHg. Multimodal imaging confirmed DCH, exudative retinal detachment, and open angle. Initial triple therapy (brinzolamide, brimonidine, carteolol) failed to lower IOP. After switching to bimatoprost monotherapy (once daily), IOP decreased to 18 mmHg within 4 weeks and remained stable at 3-month follow-up. No surgical intervention was required. CONCLUSION: In selected pediatric SWS patients with refractory glaucoma, bimatoprost may achieve excellent IOP control, avoiding surgical risks. Multimodal imaging is essential for accurate diagnosis and monitoring. This case challenges the traditional view that topical medications are ineffective in SWS-related glaucoma and highlights the potential of prostaglandin analogs as a first-line or early adjunctive therapy.

Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early-onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8-year-old girl who presented with severe growth failure and persistent pancytopenia. Bone marrow examination showed hypocellularity with monosomy 7, consistent with myelodysplastic neoplasm, and molecular analysis identified a homozygous pathogenic BLM variant (NM_000057.4:c.796C>T; p.Arg266Ter). Clinically, she exhibited overlapping neurocutaneous features within the spectrum of Sturge-Weber syndrome, Klippel-Trénaunay syndrome, and phakomatosis pigmentovascularis. The course was complicated by severe sepsis, leading to death before hematopoietic stem cell transplantation could be performed. This case highlights the importance of considering inherited cancer predisposition syndromes in children with cytopenia, growth failure, and complex neurocutaneous phenotypes.

Neurofibromatosis Type 1 (NF1) and Sturge-Weber syndrome (SWS) are both genetic disorders with distinct clinical manifestations. NF1 is characterized by multiple neurofibromas, café-au-lait spots, axillary freckling, and potential optic gliomas due to mutations in the NF1 gene on chromosome 17. In contrast, SWS is marked by capillary malformations, leptomeningeal angiofibromas, and congenital glaucoma resulting from post-zygotic mutations in the Guanine Nucleotide-Binding Protein (G Protein), subunit Alpha (GNAQ) gene. Here, we report an exceptional coexistence of both NF1 and SWS. The patient displayed multiple café-au-lait spots, neurofibromas, axillary freckling, fulfilling the criteria for NF1. Concurrently, the patient exhibited a port-wine stain in the periorbital territory aligning with the clinical features of SWS.

Objective: Hemispherotomy is an effective treatment for select forms of drug-resistant hemispheric epilepsy, including perinatal stroke, Rasmussen's encephalitis, and Sturge-Weber syndrome. Post-traumatic epilepsy (PTE) has been reported to occur in ~10% of children following traumatic brain injury (TBI). TBI has not been extensively evaluated as an indication for hemispherotomy, as its effects are rarely unilateral. Here, we report the results from five pediatric cases of hemispherotomy for drug-resistant hemispheric PTE. Methods: A retrospective review was performed of all pediatric patients with drug-resistant PTE secondary to TBI who underwent hemispherotomy between 2018 and 2022 at the Children's Hospital of Philadelphia (n = 5). All patients initially underwent craniectomy and subsequent cranioplasty due to TBI; criteria for hemispherotomy were met in the following years, leading to a recommendation for hemispherotomy at the epilepsy surgery conference. Clinical characteristics, seizure and functional outcomes, and postoperative complications were reviewed. Seizure outcomes were classified according to the Engel criteria. Results: Five children (median age: 8.3 years, range: 5.0-10.3 years) with drug-resistant PTE underwent lateral trans-sylvian hemispherotomy. TBI etiology included non-accidental trauma (n = 3) and motor vehicle accidents (n = 2). All patients exhibited Engel Class Ia seizure outcomes (median follow-up: 15 months, range: 5-39 months), with a reduction in anti-seizure medications from a median of five preoperatively to one postoperatively. No patient experienced re-operation. Neuropsychological outcomes were patient-specific, with most exhibiting a mix of gains and challenges after surgery. Conclusion: We demonstrate the use of hemispherotomy to treat drug-resistant, hemispheric PTE in five children, with excellent reduction in seizure frequency and mixed or improved neuropsychological outcomes.