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Washington University Experience | NEURODEGENERATION | NBIA1 (PKAN, Hallervorden-Spatz Dz) | 1A0 Case 1 History
Case 1 History ---- This 66 year old man died following a short 3 month course of subacute dementia which began with a 2 day period of confusion and then the patient became acutely nonresponsive. Over the course of a day his mental status normalized with slight dysarthria. A head CT was normal and an EEG showed intermittent left temporal slowing. He was discharged to a nursing home only to be admitted to BJH l.5 months later with severe anemia (Hct 22) and guaiac positive stools. General examination showed cafe au lait spots consistent with neurofibromatosis. He was totally confused with garbled speech and was unable to give any history. He had full extraocular eye movements and gegenhalten in all 4 extremities. His left toe was questionably upgoing; his right toe went down. His head CT continued to be mostly normal except for some “age-related” atrophy. A lumbar puncture was normal except for an elevated (92) protein. The patient had a 5 week hospital course during which time his mental status deteriorated. One week after admission he had nearly unintelligible speech as well as urinary incontinence. An EEG was described as diffusely slow while awake. One week after admission the patient became septic with a fever of 40°C. He was transferred to the MICU where he was noted to be hypoxic and thought to have urosepsis. He eventually grew out oxacillin resistant staph aureus from his blood cultures which was thought to reflect a lung origin. He remained consistently febrile for the next month of his hospital course despite triple antibiotic therapy. On exam l.5 weeks prior to his death, he was mute, making some mumbling movements with his lips, but no sound. He had bilateral grasp reflexes and bilateral upgoing toes. No myoclonic jerks were observed. Sepsis and prolonged bleeding time postponed a brain biopsy; however, he acutely developed decreased responsiveness and Cheyne-Stokes respirations and died before biopsy.
