A case of Susac syndrome

Susac syndrome is a readily recognized but often misdiagnosed disorder almost exclusively affecting women in the 20- to 40-year age range. Characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss, patients with Susac syndrome are often misdiagnosed with multiple sclerosis (MS). Unlike MS, however, the disease process extends over a 1- to 2-year period and then goes into remission. This presentation describes the progression of symptoms of a patient eventually diagnosed with Susac syndrome.     

Susac syndrome as a cause of sensorineural hearing loss

Susac's syndrome is an extremely rare clinical manifestation characterized by the triad of fluctuating sensorineural hearing loss, sudden visual loss and encephalopathy. Probably underdiagnosed, it affects young women who start the clinical history with headache, visual and hearing disturbances, with neurological findings in MRI. With unknown aetiology, pathogenesis is based on arteriolar microinfarcts in retina, cochlea, and grey and white matter in the brain. Treatment is, as stated in the bibliography and our experience, intravenous high doses of steroids followed by oral steroids together with hyperbaric oxygen to minimize ischaemic lesions. Aspirin associate to nimodipine has been useful to date in the treatment of our patient. We present a case and review the existing literature.     

Scoping review of cochlear implantation in Susac’s syndrome

ObjectiveScoping review of published literature to establish clinical characteristics and audiologic outcomes in patients diagnosed with Susac’s Syndrome(SS) who have undergone cochlear implantation (CI).Data sourcesAll published studies of CI in SS and contribution of two of our own patients who have not been reported previously.MethodsA comprehensive search of MEDLINE (via PubMed) was carried out in March 2020 using the following keywords and related entry terms: Susac’s Syndrome, Cochlear Implantation.ResultsOur search identified a total of five case reports of CI in SS. With the addition of our two patients reported here, we analyzed characteristics and outcomes in seven patients. Mean age at implantation was 30 years old (range 19–46), with six women and one man implanted. Mean time from onset of hearing loss to implantation was 17 months (range three months to four years). Best reported postoperative speech understanding was reported via different metrics, with six of seven patients achieving open set speech scores of 90% or better, and one subject performing at 68%. Vestibular symptoms were present preoperatively in four of seven patients (57%), with vestibular testing reported in two patients, and showing vestibulopathy in one patient. No complications were reported following cochlear implantation.ConclusionCochlear implantation is a viable option for hearing rehabilitation in patients with SS, with levels of attainment of open set speech comparable to other populations of CI candidates.     

Microangiopathy of the inner ear, retina, and brain (Susac syndrome): report of a case

Microangiopathy of the inner ear, retina, and brain was first described in 1979 by John O. Susac. Since then, approximately 60 cases have been reported. Otolaryngologists must be aware of this syndrome, in which cochleovestibular symptoms are an important part of the diagnosis. In this article, we report a new case of Susac syndrome and discuss the diagnosis, physiopathologic characteristics, and treatment of this disease.     

Velocardiofacial syndrome.

Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome look essentially normal making identification of the syndrome difficult, especially in infants. It is critical for otolaryngologists to be familiar with the symptom complex associated with velocardiofacial syndrome so as to understand the unique manifestations of this complex disorder.     

Hyoid syndrome.

A hitherto unreported treatment for one of the manifestations of the hyoid syndrome is excision of the tip of the hyoid greater cornu. A greater "index of suspicion" for the hyoid syndrome is urged.     

The oto-palato-digital syndrome.

A boy aged ten years with oto-palato-digital syndrome is discussed. Because of severe conductive hearing loss tympanotomy was performed and abnormal poorly mobile ossicles were found. Stapedectomy was performed without improvement of hearing.     

Usher's syndrome type III.

We describe a rare example of Usher's syndrome type III in a 9-year-old boy. This type is characterized by retinitis pigmentosa and progressive sensorineural deafness.     

Paroxysmal positional vertigo syndrome.

INTRODUCTION: This study was initiated to investigate the differential diagnosis of patients with benign paroxysmal positional vertigo (BPPV) of different canals' origin. METHODS: The eye movements of 292 patients were evaluated with the use of Frenzel glasses and infrared video cameras after positional tests. Epley's canal repositioning procedure (CRP) was conducted, with appropriate modifications for individual cases, on every patient. RESULTS: Two different types of positional nystagmus were observed corresponding to the presence of otoliths in the lumen of each of the semicircular canals and on the cupola of the horizontal semicircular canal. The posterior canal was involved in 250 patients unilaterally and 23 patients bilaterally. The anterior canal variety was observed in four patients. In the horizontal canal, nine were of the cupulolithiasis and six of the canalithiasis variety. In seven patients. the affected canal converted to a different location. The canal repositioning procedure eliminated vertigo and abnormal eye movements in 88% of the unilateral posterior canal variety. The success rate of the procedure in the other varieties was 50%. CONCLUSION: Positional vertigo can have characteristics corresponding to the presence of otolith particles in each of the semicircular canals. The treatment requires different strategies to move the otoliths, depending on their location in the vestibule.