Case 5 History ---- The decedent was a 61 year old man with a history of T-cell large granular lymphocyte leukemia, depression and chronic progressive ataxia of unknown etiology. At 45 years of age he developed tinnitus without focal neurologic deficits or other symptoms; neurological evaluation and imaging showed a lesion in the pons which was thought to be a pontine telangiectasia with a potentially associated developmental venous anomaly. The tinnitus later spontaneously resolved. At approximately 56 years of age, the patient started walking with a slight lean. Approximately two years later, the patient started to stagger when walking. His gait instability progressed from using a cane and "furniture/wall walking" to using a walker and wheelchair. Additionally, he had vertigo with rapid head turns, increasing speech inarticulation, dysphagia with choking, horizontal binocular diplopia with identified esotropia/esophoria, and oscillopsia. There was no loss of sensation, muscle weakness, or bowel/bladder incontinence. He had some difficulty with coordination of movement. Subtle cognitive and changes in affect developed. Physical exam in January 2015 was notable for direction changing nystagmus and square-wave jerks, ataxic dysarthria, deficits in prosody and articulation, and a broad-based gait with inability to walk or stand in tandem. The patient had progressive worsening of his ataxia and speech slurring, and he reported loss of taste (duration of over two years), tinnitus, and urinary frequency/urgency. A brain MRI in 2013 showed a stable pons abnormality previously characterized and, in 2014, imaging showed global atrophy of the cerebrum, cerebellum and brain stem, and a subtle T2 change in the left medial posterior thalamus. In 2013, audiometry showed bilateral moderate to severe sensorineural hearing loss and videonystagmography showed occasional square-wave jerks and downbeat nystagmus with hyperventilation. The patient was diagnosed with T-cell large granular lymphocyte leukemia in 2014 and he was treated with oral Cytoxan. Through mid-2015, he was still able to live alone and care for himself, with support of family and friends. However, he had a rapid decline in function in the 6-8 months prior to expiration and he opted to go on to home hospice care in late 2015 and expired in January 2016. The clinical differential diagnosis at the time of his passing was: 1) a neurodegenerative etiology including MSA-C, CANVAS; 2) a paraneoplastic or autoimmune ataxia; 3) a nutritional deficiency in the setting of undiagnosed celiac disease; or less likely 4) direct CNS sequelae of a smoldering malignancy. ---- The autopsy demonstrated none of those entities, only an aggressive telangiectasis in the brainstem. At the time a reference was included in the workup of a similar case (Huddle DC el al. (1999) Clinically aggressive diffuse capillary telangiectasia of the brain stem: a clinical radiologic-pathologic case study. AJNR Am J Neuroradiol 20(9):1674-7.
