Susac syndrome: The importance of an early diagnosis

Susac syndrome (SS) is a rare microangiopathy that involves arterioles of the brain, retina, and cochlea. Diagnosis is extremely difficult because of the rarity of the disease and because the signs and symptoms often occur at different times. Multidisciplinary approaches and multimodal images are mandatory for diagnosis and prompt therapy. In this report, we describe a case of SS and the application of multimodal retinal imaging to evaluate the ophthalmologic changes and to confirm diagnosis. Early diagnosis and therapy based on the associations of steroids and immunosuppressants are necessary to limit the sequelae of the disease.

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Headache in a young woman: do not forget Susac’s syndrome

Reumatismo ◽

10.4081/reumatismo.2017.995 ◽

2017 ◽

Vol 69 (3) ◽

pp. 122 ◽

Cited By ~ 1

Author(s):

A. Kefi ◽

F. Said ◽

T. Ben Salem ◽

M. Khedher ◽

M. Khanfir ◽

...

Keyword(s):

Differential Diagnosis ◽

Early Diagnosis ◽

Retinal Artery Occlusion ◽

Artery Occlusion ◽

Branch Retinal Artery Occlusion ◽

Permanent Disability ◽

Susac Syndrome ◽

Broad Variety ◽

Retinal Artery ◽

Clinical Triad

Susac syndrome is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. This underdiagnosed condition needs to be considered in the differential diagnosis of a broad variety of disorders. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the importance of an aggressive therapeutic approach, including the combination of steroids and other cytotoxic drugs.

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Leptomeningeal enhancement on post-contrast FLAIR images for early diagnosis of Susac syndrome

Multiple Sclerosis Journal ◽

10.1177/13524585211012349 ◽

2021 ◽

pp. 135245852110123

Author(s):

Guillaume Bellanger ◽

Damien Biotti ◽

Gilles Adam ◽

Jean Darcourt ◽

Margaux Roques ◽

...

Keyword(s):

Magnetic Resonance ◽

Early Diagnosis ◽

Interrater Agreement ◽

Chi Square ◽

Post Contrast ◽

Leptomeningeal Enhancement ◽

Susac Syndrome ◽

Mri Features ◽

Fluid Attenuated Inversion Recovery ◽

Chi Square Test

Background: Leptomeningeal enhancement (LME) is a key feature of Susac syndrome (SuS) but is only occasionally depicted on post-contrast T1-weighted images (T1-WI). Objective: As post-contrast fluid-attenuated inversion recovery (FLAIR) may be more sensitive, our aim was to assess LME in SuS on this sequence. Methods: From 2010 to 2020, 20 patients with definite SuS diagnosis were retrospectively enrolled in this multicentre study. Two radiologists independently assessed the number of LME on post-contrast FLAIR and T1-WI acquisitions performed before any treatment. A chi-square test was used to compare both sequences and the interrater agreement was calculated. Results: Thirty-five magnetic resonance imagings (MRIs) were performed before treatment, including 19 post-contrast FLAIR images in 17 patients and 25 post-contrast T1-WI in 19 patients. In terms of patients, LME was observed on all post-contrast FLAIR, contrary to post-contrast T1-WI (17/17 (100%) vs. 15/19 (79%), p < 0.05). In terms of sequences, LME was observed on all post-contrast FLAIR, contrary to post-contrast T1-WI (19/19 (100%) vs. 16/25 (64%), p < 0.005). LME was disseminated at both supratentorial (19/19) and infratentorial (18/19) levels on post-contrast FLAIR, contrary to post-contrast T1-WI (3/25 and 9/25, respectively). Interrater agreement was excellent for post-contrast FLAIR (κ = 0.95) but only moderate for post-contrast T1-WI (κ = 0.61). Conclusion: LME was always observed and easily visible on post-contrast FLAIR images prior to SuS treatment. In association with other MRI features, it is highly indicative of SuS.

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Red Flags: Barriers to Listening and Spoken Language in Children with Hearing Loss

Perspectives on Hearing and Hearing Disorders in Childhood ◽

10.1044/hhdc24.1.11 ◽

2014 ◽

Vol 24 (1) ◽

pp. 11-18

Author(s):

Andrea Bell ◽

K. Todd Houston

Keyword(s):

Hearing Loss ◽

Early Diagnosis ◽

Skill Acquisition ◽

Dynamic Process ◽

Spoken Language ◽

Red Flags ◽

Careful Monitoring ◽

Auditory Development ◽

Children With Hearing Loss ◽

Family Centered

To ensure optimal auditory development for the acquisition of spoken language, children with hearing loss require early diagnosis, effective ongoing audiological management, well fit and maintained hearing technology, and appropriate family-centered early intervention. When these elements are in place, children with hearing loss can achieve developmental and communicative outcomes that are comparable to their hearing peers. However, for these outcomes to occur, clinicians—early interventionists, speech-language pathologists, and pediatric audiologists—must participate in a dynamic process that requires careful monitoring of countless variables that could impact the child's skill acquisition. This paper addresses some of these variables or “red flags,” which often are indicators of both minor and major issues that clinicians may encounter when delivering services to young children with hearing loss and their families.

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