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Washington University Experience | NEURODEGENERATION | Polyglucosan Body Disease (PGBD) | 5A0 Case 5 History
Case 5 History ---- The patient was a 56-year-old woman with a past medical history significant for migraine headaches; hepatitis C and non-alcoholic steatohepatitis; Addison's disease with secondary Cushing's syndrome (with Addisonian crises reportedly every 2-3 weeks); coronary artery disease with sick sinus syndrome status post pacemaker; hypertension; chronic obstructive pulmonary disease; hypothyroidism; peptic ulcer disease; history of deep venous thrombosis on coumadin (warfarin); fibromyalgia; and eyelid melanoma. She presented in 04/2012 to an OSC with a new, sudden onset headache, but according to the family had been having generalized malaise and nonspecific complaints over the prior weekend. The patient was found by her neighbor to be confused, disoriented and somewhat lethargic. She was taken to an outside hospital where she reported a severe headache, 10 out of 10 in severity. At that time she was speaking clearly and appropriately and without focal deficit. On exam, her blood pressure was 216/136, heart rate was 110, respiratory rate was 20, and her O2 saturation was 96%. She was given 2 milligrams of hydromorphone and a head computed tomography was performed that showed intraventricular hemorrhage involving the right lateral, third, and fourth ventricles in addition to the aqueduct. There was also concern for an anterior communicating artery aneurysm. The patient was transferred to BJH on 04/11/and at that time she was unable to verbalize any complaints due to lethargy. A cerebral angiogram of the right intracranial carotid artery showed no right cerebral arteriovenous malformation, arteriovenous fistula, or aneurysm to account for the intraventricular hemorrhage. A CT on the same day showed an unchanged hemorrhage within the right lateral ventricle, right third ventricle, and right fourth ventricle. The next day, the patient developed acute deterioration of her mental status, becoming unresponsive, apneic (respiratory rate of 6), and had fixed pupils. She was emergently intubated and was temporarily started on pressors for hypotension (80s/40s). The patient also had a left external ventricular drain placed around 03:00. She was started on broad-spectrum antibiotics while on continued steroids. An emergent cerebral angiogram showed patchy loss of staining of the distal parenchyma bilaterally consistent with ischemic infarction. On 04/12, the patient experienced a sudden increase in intracranial pressure. The patient's physical exam remained unchanged with spontaneous shallow respirations. An emergent EEG showed generalized slowing indicative of diffuse cerebral dysfunction and head CT showed stable ventricular hemorrhages as well as decreased gray and white matter differentiation concerning for brain edema. Given the patient's poor prognosis the family decided to withdraw care. The patient's endotracheal tube and external ventricular drain were removed. She died the next day. ---- At autopsy the unfixed brain weighed 1310g. 5A1 The gross appearance of the cerebral hemisphere is essentially normal.
