engleski

Susac syndrome: a case report

Introduction/Objectives: Susac syndrome is a rare autoimmune disorder which was first described in 1979. It is characterised by microangiopathic changes affecting the brain, retina and cochlea. It clinically presents with encephalopathy, hearing loss and visual disturbance, but the symptom triad is rarely fully manifest at onset. Disease is more common in females of 20-40 years of age, but has occurred in individuals ranging in age from 9 to 72. Brain magnetic resonance imaging, fluorescein angiography and tonal audiometry are important tools to confirm diagnosis. Early diagnosis and treatment are important in stopping the progression of disease with long-term consequences. Objectives: Review of clinical presentation, laboratory data, diagnostic procedures, treatment and outcome of patient with Susac syndrome. Case report: A 32-year-old female patient, previously healthy, presented with a headache, hand paresthesias and urinary incontinence. She felt weakness in legs three months before hospitalisation. She had a normal state of consciousness. Hearing was impaired, first in the right ear and later in both ears. She had instability while walking. Deep tendon reflexes were normal and there were no signs of motor deficit in neurological examination. Routine haematological and biochemical analysis were unremarkable. Cerebrospinal fluid (CSF) analysis showed pleocytosis (white blood cells 89/mcL, mononuclear cells 87/mcL, polymorphonuclear cells 2/mcL), elevated protein level (1, 23 g/L) and normal glucose level. CSF albumin level was high (668, 8 mg/L ; normal range 144-336). Oligoclonal bands in CSF were absent. Serological diagnostic tests showed Borrelia burgdorferi specific IgM antibodies and Chlamydia pneumoniae IgG antibodies. CSF analysis (CLIA) for Borrelia burgdorferi, Toxoplasma gondii and neurotropic viruses were negative. Magnetic resonance imaging (MRI) of the brain with contrast showed hyperintense lesions of corpus callosum, periventricular region, both sides of the frontal and parietal lobe, and the left side of the cerebellum. There were no active lesions. Magnetic resonance angiography of the brain and MRI of the cervical spine were normal. Carotid and vertebral arteries color Doppler and transcranial color Doppler were normal. Electroencephalogram showed theta activity 5-7 Hz over the frontotemporal region dominantly right and generalised slow wave activity. Tone audiometry revealed perceptive deafness in the right ear. Visual evoked potential was normal. The patient was treated with intravenous methlyprednisolone 500 mg per day for five days, peroral doxycyclyne for three weeks and peroral cyclophosphamide during the next six months. She recovered from urinary tract disorder. Conclusions: We reported a case of Susac syndrome which manifested with encephalopathy and hearing impairment. The symptoms partially recovered after the immunosuppressive therapy. Susac syndrome should be suspected in patients presenting with neurological disorder associated with hyperintense lesions in periventricular white matter and corpus callosum, and/or hearing loss, and/or visual disturbances.

Susac syndrome ; case report

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