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Findings seen in patients with porphyria | Findings seen in our patient |
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Neuropsychiatric manifestations |
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Autonomic nervous system (tachycardia, arrhythmias, restlessness, tremor, sweating, etc.) | Tachycardia noted on some hospital admissions, but at the same time, the patient is on a beta blocker. |
Peripheral | |
Sensory | |
Neuropathy (peripheral sensory) | Has underlying neuropathy without any other underlying cause, on gabapentin. |
Motor | |
Motor paresis | |
Central nervous system | |
Impairment of bulbar or respiratory function (respiratory paralysis) | |
Convulsions/seizures | |
Psychiatric | |
Psychiatric manifestations (behavior change, agitation, anxiety, and depression) | Has ongoing anxiety/depression along with some agitation episodes. |
Mental status changes | Multiple admissions for mental status changes. |
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Visceral manifestations |
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(i) Abdominal pain (ii) Other locations of pain (chest, back, and limb) | More than 30 presentations over the past couple of years for abdominal pain and some for chest pain; has necessitated at least 6 computerized tomography (CT scans) and multiple ultrasound examinations. |
Other GI symptoms: constipation, ileus, vomiting, and abdominal distention | Present in our patient. |
Bladder dysfunction (urinary retention, incontinence, and dysuria) | Endorsed dysuria on some admissions. |
HTN | Noted in our patient. |
Chronic kidney disease | Present, necessitating dialysis. |
Hyponatremia (from syndrome of inappropriate ADH secretion (SIADH)) | Hyponatremia noted on some admissions but exact etiology not worked up. |
Dark-colored urine | See Figure 2. |
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Cutaneous manifestations |
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Bullous lesions usually uncommon in AIP (except for some patients with ESRD) but seen more so in neurocutaneous porphyrias (VP and HCP). Lesions not distinguishable from those of PCT. | See Figure 1. |
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