Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

Abstract Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

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Management of aggressive posterior retinopathy of prematurity in oculocutaneous albinism

BMJ Case Reports ◽

10.1136/bcr-2020-238490 ◽

2021 ◽

Vol 14 (2) ◽

pp. e238490

Author(s):

Bhavik Panchal ◽

Megha Gulati

Keyword(s):

Retinopathy Of Prematurity ◽

Intravitreal Bevacizumab ◽

Male Infant ◽

Oculocutaneous Albinism ◽

Complete Regression ◽

Vascular Endothelial ◽

Postmenstrual Age ◽

Factor Therapy ◽

Growth Factor Therapy ◽

Endothelial Growth Factor

A male infant, born preterm at 32 weeks of gestation, was referred at 36-week postmenstrual age for retinopathy of prematurity (ROP) screening. He had nystagmus, generalised hypopigmentation of skin, hair and eyes with preaxial polydactyly. The fundus was depigmented with prominently visible choroidal vessels. The retinal vessels were dilated, tortuous at zone 1. There was presence of arcading, shunting of vessels with presence of vitreous haemorrhage in the left eye. A diagnosis of aggressive posterior retinopathy of prematurity (APROP) in association with oculocutaneous albinism (OCA) was made.Half-dose intravitreal bevacizumab was used to treat the vascular condition. After 2 weeks, there was complete regression of APROP with a completely mature retina observed at 4 months post-treatment. Herein, we describe the role of red-free light for screening ROP in infants with OCA; challenges in the management of ROP with laser photocoagulation compared with intravitreal anti-vascular endothelial growth factor therapy.

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Encephalotrigeminal Angiomatosis: A Review with Emphasis on Head and Neck Manifestations

Neurographics ◽

10.3174/ng.2000061 ◽

2021 ◽

Vol 11 (3) ◽

pp. 166-174

Author(s):

B.R. Larsen ◽

M.S. Rosztoczy ◽

D.C. Van Tassel ◽

C.R. Larson ◽

S.A. Avedikian ◽

...

Keyword(s):

Head And Neck ◽

Soft Tissues ◽

Clinical Findings ◽

Imaging Features ◽

Facial Soft Tissue ◽

Vascular Abnormalities ◽

Weber Syndrome ◽

The Face ◽

Sturge Weber Syndrome ◽

Tissue Abnormalities

Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome or Sturge-Weber-Dimitri disease, is a sporadic congenital neurocutaneous syndrome characterized by angiomas of the face, eyes, and meninges. The typical clinical findings include seizures, a port-wine facial nevus, hemiparesis, and developmental delay. The classic intracranial imaging features of Sturge-Weber syndrome include cerebral hemispheric atrophy, hypervascularity and/or calcification of the cortex, and ipsilateral choroid plexus enlargement. Extracranial findings primarily include the vascular abnormalities of the ocular and facial soft tissues as well as hypertrophy of the calvarial and maxillofacial osseous structures. Additionally, we report involvement of the extraocular muscles, salivary glands, and lacrimal glands, findings that have not been well described in the literature. While a developmental venous pathology underlying Sturge-Weber syndrome has been proposed resulting in many of the findings, the mechanism behind the facial soft-tissue abnormalities and the clinical sequelae associated with these glandular abnormalities is still uncertain.Learning Objective: To recognize typical clinical and various imaging manifestations of Sturge-Weber syndrome, including head and neck and intracranial imaging findings

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