Non-traumatic neurological deterioration is a medical emergency that may arise from diverse causes, to include cerebral infarction or intracranial hemorrhage, meningoencephalitis, seizure, hypoxic-ischemic or toxic/metabolic encephalopathy, poisoning, or drug intoxication. We describe the abrupt onset of neurological deterioration in a 53-year-old man with Williams-Beuren syndrome, a sporadically occurring genetic disorder caused by chromosomal microdeletion at 7q11.23. The clinical phenotype of Williams-Beuren syndrome is suggested by distinctive elfin facies, limited intellect, unique personality features, growth abnormalities, and endocrinopathies. The causative microdeletion of chromosomal material will frequently involve loss of the elastin gene, ELN, with resulting arteriopathy, supravalvular aortic stenosis, non-ischemic cardiopathy, and atrial fibrillation. Our patient sustained acute neurological decline within one month after undergoing a cardiac ablative procedure to convert atrial fibrillation to sinus rhythm. We present our findings in the setting of a clinico-pathological correlation, in which we reveal the cause of the abrupt neurological deterioration and discuss how our patient was affected by an uncommon stroke disorder.
|Journal||Journal of Stroke and Cerebrovascular Diseases|
|State||Published - Apr 2022|
Bibliographical noteFunding Information:
The authors thank the nurses and physicians of the Emergency Department and the Neuroscience Intensive Care Unit, University of Kentucky Hospital, Lexington, Kentucky, for the compassionate care rendered to the patient. Conception and Design of the Work: D.L.I. and L.C.P. Acquisition and Analysis of Data: D.L.I. F.O.O. and L.C.P. Drafting of Manuscript/Preparation of Figures: D.L.I. F.O.O. A.E.E. J.D.L. W.N.O. L.B.G. and L.C.P.
© 2022 Elsevier Inc.
- Atrial fibrillation
- Atrio-esophageal fistula
- Cerebral air embolism
- Pulmonary vein isolation
- Williams-Beuren syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Cardiology and Cardiovascular Medicine