2018, Number 2
Rev Mex Neuroci 2018; 19 (2)
Gómez-Gómez LC, Rivera-Montes H
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ABSTRACTIntroduction: Susac’s Syndrome (SS) is a rare disease first described in 1979 characterized by the clinical triad of encephalopathy, neurosensory auditory loss, and partial or complete occlusion of the retinal artery. Described as an inflammatory disease, presumably an autoimmune disease, against vascular endothelium that causes occlusion of the small vessels. The diagnosis is supported by brain MRI, retinal fluorography, and audiometry. It’s a subdiagnosed syndrome with numerous differential diagnostics. The prevalence is unknown, until now only 300 cases have been registered worldwide. Young women are the most affected.
Case presentation: 34-year-old woman, no history of chronicdegenerative diseases, catholic, housekeeper, doesn’t keep pets or other animals, no surgical history, no allergies, no use of tobacco, alcohol, or illicit drugs, no recent travels. Medical history: begins 6 months ago with vertigo, emesis of undigested food in multiple occasions, holocranial cephalalgia. After 2 months, presents sudden auditory loss, right ear tinnitus, somnolence, disorientation, difficulty articulating words, lower limbs weakness, and difficulty walking. PE: BP 100/60mmHg, HR 78’, T 36.5ºC, RR 15’; normocephalic, inexpressive face, skin and mucous membranes well hydrated and without pallor, no infiltration to subcutaneous cellular tissue, neck without jugular venous distention; at pulmonary level with vesicular murmur, no rales or wheezing, no pathological sounds; cardiac sounds with adequate tone and volume, no murmurs; abdomen soft, depressible, non painful, without signs of peritoneal irritation. At neurological level: awake, capable of fixating attention but for short periods of time, monotonous speech, comprehends simple commands but doesn’t obeys them, uncooperative. Cranial nerves: I not assessable, II visual acuity not assessable, visual field campimetry indifferent, III IV and VI central primary gaze, isochoric pupils, normal photopupillary and consensual reflexes, rest of cranial nerves without alteration; strength 4/5 in upper limbs and 3/5 in lower limbs, normal sensory; cerebellum and gait not assessables; atavistic reflexes absent; no abnormal movements; meningeal signs absent. Fundoscopic exam is normal. CBC: WBC 6.7 Neut 5 Hb 13.1 Plat 264 Gluc 106 Urea 41 Cr 0.9 Na 136 K 4.1 Cl 101 BUN 20; CSF normal, CSF culture negative, CSF cytology normal; LFT with TB 0.9 CB 0.6 UB 0.3 ALT 25 AST 16. Cerebral MRI: periventricular white matter lesions, which are hyperintense in T2, with multiple small lesions in the central portion of the corpus callosum. Audiometry: right asymmetry in phonemic discrimination. Fluorescein angiography: hyperfluorescence of peripheral retinal arteries. Vestibular tests: no spontaneous nistagmus, right canalicular hypoexcitability of 26%, study compatible with vestibular dysfunction at brain stem level and right intracanalicular paresis. Medical treatment was indicated with human immunoglobulin for 5 days, with improvement of symptoms, mental functions, and strength, remaining only with right hypoacusis. Control MRI with evidence of improvement with decrease of the hyperintense lesions, remaining only the lesions at the corpus callosum. Patient is discharged with ambulatory treatment.
Differential diagnosis: Multiple Sclerosis, Optic Neuritis, Encephalitis, among others must be ruled out.
Conclusion: SS is an infrequent entity, characterized by cerebral, retinal, and auditory affection with multiple differentials, which make its diagnosis a medical challenge.