Preventive treatment with oral sirolimus and aspirin in a newborn with severe Sturge‐Weber syndrome

Junco, Paloma Triana; Sánchez‐Carpintero, I.; López‐Gutiérrez, Juan Carlos

doi:10.1111/pde.13841

Cited by 22 publications

(19 citation statements)

References 17 publications

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“…Additionally, it has antiangiogenic and antitumor effects. It directly inhibits mTOR, blocking protein synthesis in the PI3K/Akt/mTOR pathway 1 . Topical preparations of sirolimus have been used in patients with facial port‐wine birthmarks treated with pulsed dye laser (PDL) with the effect of reducing the number of laser sessions required, according to a clinical trial with 23 patients with SWS and facial port‐wine birthmark 1,7 .…”

Section: Discussionmentioning

confidence: 99%

“…The initial dose was 0.8 mg/m 2 /12 hours, combined with aspirin. After two years of follow‐up, the patient remained free of seizures and the port‐wine birthmark, additionally treated with PDL, had lightened 1 . Davila et al presented the case of a 2‐month‐old girl with the diagnosis of phacomatosis cesioflammea, SWS, and poorly controlled seizures despite dual anticonvulsant therapy.…”

Section: Discussionmentioning

confidence: 99%

“…In the last few years, “off‐label” use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, such as tufted angioma and Kaposiform hemangioendothelioma associated with Kasabach‐Merritt phenomenon, venous malformations, and lymphatic malformations. Arteriovenous malformations, however, have not shown benefit from systemic sirolimus therapy 1,2,8,9 …”

Section: Discussionmentioning

confidence: 99%

“…After two years of follow-up, the patient remained free of seizures and the port-wine birthmark, additionally treated with PDL, had lightened. 1 Davila et al presented the case of a 2-month-old girl with the diagnosis of phacomatosis cesioflammea, SWS, and poorly controlled seizures despite dual anticonvulsant therapy. She was treated with everolimus at 5 mg/m 2 /24 hours and aspirin, achieving complete seizure control with three years of follow-up.…”

Section: Facial Hemihypertrophy In a Girl With Sturge-weber Syndrome:...mentioning

confidence: 99%

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Facial hemihypertrophy in a girl with sturge‐weber syndrome: Treatment with oral sirolimus

Giacaman

Sanz

Noguera

et al. 2021

Pediatric Dermatology

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Mammalian target of rapamycin inhibitors (MTORI) have shown promising results in the treatment of some complex vascular anomalies and have recently been used in patients with Sturge-Weber syndrome (SWS). 1,2 | C A S E REP ORTAn 11-year-old girl presented for management of SWS. She had associated seizures since five months of age, well controlled on oxcarbazepine, learning disability, and congenital glaucoma that required surgical intervention and topical treatment with timolol (Figure 1).Over the previous year, a slow and progressive increase in the soft tissue was found underlying the facial capillary malformation, not associated with infection or trauma, and leading to disfigurement, impaired opening of the affected eye, and loss of two teeth (Figure 2).The multidisciplinary vascular anomalies committee recommended treatment with oral sirolimus at a dose of 0.8 mg/ m 2 /12 hours, maintaining levels lower than 5 ng/mL, which was subsequently instituted and was well tolerated without adverse effect. A significant attenuation of the color of the capillary malformation was perceived within the first month of treatment with sirolimus. Follow-up at 8 months of treatment revealed a reduction in the overgrowth of the left face (Figure 3). No adjunctive therapies such as pulsed dye laser treatments during this time were utilized.An improvement in intraocular pressure was also noted, with levels lower than previously recorded. The patient also reported less difficulty with her schoolwork since beginning treatment with sirolimus, though no improvement was detected by the Wechsler Intelligence Scale for Children, fifth edition (WISC-V), employed 8 months after the initiation of sirolimus. | D ISCUSS I ONSturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ gene and recently described in patients with a mutation in the GNA11 gene. [3][4][5] The incidence is 1 in 20 000 to 50 000 newborns. 3 It is characterized by facial capillary malformation ("port-wine birthmark") with progressive soft tissue overgrowth, leptomeningeal capillary malformations, and choroidal and episcleral vascular malformations. Patients typically develop seizures and glaucoma. 3,6 Seizures often start in the first 2 years of life, and the onset of glaucoma is thought to be bimodal, with 60% of patients developing glaucoma in infancy and 40% developing glaucoma in childhood or early adulthood. 6

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Facial Hemihypertrophy In a Girl With Sturge-weber Syndrome:...mentioning

confidence: 99%

See 2 more Smart Citations

Facial hemihypertrophy in a girl with sturge‐weber syndrome: Treatment with oral sirolimus

Giacaman

Sanz

Noguera

et al. 2021

Pediatric Dermatology

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“…Rapamycin in combination with aspirin has been given orally in an infant with bilateral facial and extensive leptomeningeal involvement prophylactically. 106 The patient was prophylactically started on oral rapamycin (0.8 mg/ m 2 /dose) in combination with aspirin (10 mg/kg/day) at 3-weeks of age and remained seizure free at 23-months; the patient also underwent 10 sessions of PDL (starting at 2 months of age) that were considered significantly effective, showing notable lightening of the PWB.…”

Section: Targeted Therapies a Novel Approach In Swsmentioning

confidence: 99%

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sanchez-Espino¹,

Ivars²,

Antoñanzas³

et al. 2023

TACG

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Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the GNAQ gene, and more recently, the GNA11 gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of GNAQ/GNA11 molecular pathways will help to develop future targeted treatments.

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Oral Sirolimus for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome

Kalantary,

Halbert,

Franchina

et al. 2024

JAMA Ophthalmol

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Preventive treatment with oral sirolimus and aspirin in a newborn with severe Sturge‐Weber syndrome

Cited by 22 publications

References 17 publications

Facial hemihypertrophy in a girl with sturge‐weber syndrome: Treatment with oral sirolimus

Facial hemihypertrophy in a girl with sturge‐weber syndrome: Treatment with oral sirolimus

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Oral Sirolimus for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome

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