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A 64 y/o hispanic male was brought to the hospital by his family with confusion & hallucinations. His vital signs were within normal limits except for positive orthostatics. Pertinent exam findings included scanned speech, head titubation, glabellar sign & positive grasp reflex, increased tone in upper extremities and trunchal rigidity. Cerebellar signs were also abnormal with ataxic gait. Initial work up included infectious, neoplastic, and metabolic causes, all of which were negative. Several days into the hospitalization, additional history was obtained from the family. The patient had a history of long standing progressive deterioration in gait and balance. He also had increasingly frequent falls. Also mentioned, were changes in mood, behavior, and a history of urinary incontinence. Complicating these findings was a history of drugs and alcohol use by the patient years before. The patient has a sister with a similar condition and features, but the sister does not have any history of drug or alcohol abuse and functions at a higher level despite her older age. Based on history and physical exam, the diagnosis of probable Multi-system Atrophy (MSA) with predominant cerebellar ataxia was made. An MRI of the brain showed cerebellar atrophy with pontine flattening. The patient was treated with atypical antipsychotics while receiving supportive care including physical and occupational therapy. Conclusion This case illustrates the presence of familial MSA with genetic predisposition. MSA is a rare condition that may not be easily recognized. There is only one known study from Germany suggesting that genetic predisposition in MSA does occur. In addition, our case stresses the importance of good history and physical exam to diagnose this condition. Although unusual, Internists should familiarize themselves with MSA and the various presentation of the disease.


Presented at the American College of Physicians New Mexico Chapter Scientific Meeting, 10/10, Albuquerque, NM.