sturge weber

CASE STUDY
Trần Thị Đỗ Quyên – NT44


CASE STUDY
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BN nam, 37 tuổi

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Tiền sử: khỏe mạnh

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Lý do vào viện: đau nữa đầu phải, sưng đau mắt phải cách 1 tháng

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Bớt bẩm sinh màu tím vùng trán và mắt bên phải

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Khơng có dấu hiệu thần kinh khu trú

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Đo nhãn áp: tăng nhãn áp mắt phải (22mmHg)

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CASE STUDY

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CT

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CASE STUDY

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CASE STUDY

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CASE STUDY

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BN nam 37 tuổi có bớt màu tím bẩm sinh ở trán và vùng mắt phải kèm đau nửa đầu và sưng đau mắt phải cách 1 tháng

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Khám: tăng nhãn áp mắt phải

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CT

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Hình ảnh vơi hóa lan tỏa theo vùng vỏ và dưới vỏ bán cầu phải

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Tăng kích thước đám rối mạch mạc não thất bên cùng bên

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Tăng ngấm thuốc màng mạch mắt phải

 Chẩn đoán: Sturge-Weber syndrome

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STURGE-WEBER SYNDROME

Trần Thị Đỗ Quyên – NT 44


INTRODUCTION

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A rare congenital neuro-dermatological disorder with angiomas that involve the leptomeninges, the skin of the face, eye.

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Non-familial

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1 in 50000

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PATHOPHYSIOLOGY

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PATHOPHYSIOLOGY

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ROACH SCALE CLASSIFICATION

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Type I – the most common

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Facial and leptomeningeal angiomas; glaucoma

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Type II:

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Facial angioma alone, may have glaucoma

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No CNS involvement

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Type III :

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Isolated leptomeningeal; usually no glaucoma

Annual Review

10/11/22


CLINICAL FEATURES
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Port-wine stain

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Congenital

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Most often on the face, typically on the forehead, temple, or eyelid

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Ophthalmic manifestation

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Glaucoma  buphthalmos, reduced vision

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CLINICAL FEATURES

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Neurologic symptoms: depending on the location of the LAs

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Developmental delay

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Seizures: 75-90%

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Headache

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Hemiparesis

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Hemianopia

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RADIOLOGIC FEATURES

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The role of radiology

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Diagnosis

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Distinguishing

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Follow-up

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Plain skull x-rays: less usefull

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CT: more sensitive to evaluate calcifications

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MRI: abnormal myelination, leptomeningeal enhancement, orbital associated malformations

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X- ray

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Tram-track calcifications

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A smaller hemicranium on the affected side.

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CT Scannner

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Tramline gyriform calcification

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Cortical atrophy

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Enlargement of choroid plexus

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MRI: first choice

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Direct signs

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Leptomeningeal enhancement: the only direct sign for an early diagnosis, the cause can be related to a primary venous dysplasia and consequently an
hyperplasia of the leptomeningeal plexus 

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Indirect signs

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White matter asymmetry (T1 hypersignal/T2 hyposignal)

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Choroid plexus enlargement

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Cortical atrophy

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Tram-track sign of cortical and subcortical calcification

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Diagnosis: 2/3 diagnostic criteria

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Facial port-wine birthmark

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Increased ocular pressure

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Leptomeningial angiomatosis

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Differential diagnosis
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Gobbi syndrome:

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The combination of celiac disease, epilepsy and bilateral occipital calcifications due to  immune reaction

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 Childhood

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Pathology: HLA-DQ2 and HLA-DQ8 genes

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CT/MRI

+ Bilateral cortical and subcortical occipital calcification
+ Absence of lobar or hemispheric atrophy, leptomeningeal enhancement

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Differential diagnosis
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Leptomeningeal Enhancement

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Meningitis

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Leptomeningeal metastases

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TREATMENT

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Seizure: anticonvulsant drugs, hemispherectomy

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Glaucoma: drugs to reduce IOP: beta- antigonist eye drops, carbonic anhydrase inhibitors, adrenergic eye drops and
miotic eye drops

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PWS: laser therapy

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CONCLUSION

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Sturge-Weber syndrome: rare neurocutaneous disorder (angiomatosis of the skin, eye, and meninges)

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Clinical features: facial port wine stains, neurologic symptom and ophthalmic symptoms

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Imaging modalities: CT and MRI

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Diagnosis: 2/3 diagnostic criteria (facial port-wine birthmark; increased ocular pressure; leptomeningial angiomatosis)

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Treatment: Symptomatic treatment

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