Susac's syndrome, a rare, potentially severe or lethal neurological disease.
Summary of "Susac's syndrome, a rare, potentially severe or lethal neurological disease."
Susac's syndrome (SS) is a rare, immune-mediated endotheliopathy affecting the microvasculature of the brain, the inner ear and the retina. Clinical presentation is characterised by a triad: encephalopathy, hearing loss and branch retinal artery occlusion (BRAO). Given the rarity of this disease, its natural history still remains partially unknown, but lethal cases appear to be extremely rare since there has never been, to our knowledge, a report of SS leading to death. We report 2 cases of SS illustrating the multiplicity of neurological symptomatology and its unpredictable course. One case is particularly unusual due to its severe neurological evolution, leading to death despite treatments. This report presents clinical and paraclinical findings contributory to SS diagnosis and offers an innovative perspective on disease management. These cases represent the potential severity of this disease. Early, aggressive treatment strategies may be warranted for SS in order to avoid neurological deterioration and lethal evolution.
Affiliation
Department of Neurology, Gui de Chauliac Hospital, Avenue Auguste Fliche, 34295, Montpellier, France.
Journal Details
This article was published in the following journal.
Name: Journal of the neurological sciences
ISSN: 1878-5883
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20723912
- DOI: http://dx.doi.org/10.1016/j.jns.2010.07.020
Medical and Biotech [MESH] Definitions
Susac Syndrome
A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss.
Rett Syndrome
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Donohue Syndrome
Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
Creutzfeldt-jakob Syndrome
A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))
Coffin-lowry Syndrome
A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
PubMed Articles
Characteristics of Susac syndrome: a review of all reported cases.
In Susac syndrome, occlusions of microvessels-presumed to be mediated by an autoimmune response to an as yet unknown antigen-lead to a characteristic clinical triad of CNS dysfunction, branch retinal...
Long-term clinical and radiological evolution in one case of Susac's syndrome.
Susac's syndrome is a rare idiopathic microangiopathy affecting the precapillary arterioles of the brain, retina and cochlea leading to the clinical triad of encephalopathy, retinopathy and hearing lo...
Susac syndrome: Variable onset modes and disease courses: two case reports.
INTRODUCTION: Susac syndrome is a rare microangiopathy of unknown etiology, which involves the clinical triad of encephalopathy, visual loss, and hearing loss. Several onset and progression patterns a...
Abstract Conclusion: The cochlear implant was beneficial as an attempt to restore hearing and improve communication abilities in this patient with profound sensorineural hearing loss secondary to Susa...
A 19-year-old woman presented with subacute encephalopathy and subsequently developed hearing loss and occlusions of branches of the central retinal artery. The triad of microangiopathy of the brain,...
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