RESUMO
BACKGROUND: Acute porphyria is historically known as "the little imitator" in reference to its reputation as a notoriously difficult diagnosis. Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific clinical features. CASE REPORT: A 40-year-old man presented to the Emergency Department (ED) as a major trauma call, having been found in an "acutely confused state" surrounded by broken glass. Primary survey revealed: hypertension, tachycardia, abdominal pain, severe agitation, and confusion with an encephalopathy consistent with acute delirium, a Glasgow Coma Scale score of 13, and head-to-toe "burn-like" abrasions. Computed tomography was unremarkable, and blood tests demonstrated hyponatremia, acute kidney injury, and a neutrophilic leukocytosis. The next of kin eventually revealed a past medical history of variegate porphyria. The patient was experiencing an acute attack and received supportive management prior to transfer to intensive care, subsequently making a full recovery. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case highlights the importance of recognizing acute medical conditions in patients thought to be suffering from major trauma. Acute porphyria should be considered in any patient with abdominal pain in combination with neuropsychiatric features, motor neuropathy, or hyponatremia. Patients often present to the ED without any medical history, and accurate diagnosis can be essential in the acute setting to minimize morbidity and mortality. The label of the major trauma call must be taken with great caution, and a broad differential diagnosis must be maintained throughout a diligent and thorough primary survey.
Assuntos
Diagnóstico Diferencial , Porfiria Variegada/complicações , Porfiria Variegada/fisiopatologia , Ferimentos e Lesões/diagnóstico , Dor Abdominal/etiologia , Adulto , Combinação Amoxicilina e Clavulanato de Potássio/farmacologia , Combinação Amoxicilina e Clavulanato de Potássio/uso terapêutico , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Serviço Hospitalar de Emergência/organização & administração , Humanos , Masculino , Rabdomiólise/etiologia , Rabdomiólise/fisiopatologia , Vômito/etiologia , Ferimentos e Lesões/fisiopatologiaRESUMO
A 55-year-old man was working in a trench when the wall collapsed in on him, pinning him to the wall. On arrival in the emergency department the patient began reporting of right-sided headache. Neurological examination revealed left-sided reduced sensation with weakness. Whole-body CT scan showed right-sided flail chest and bilateral haemothorax as well as loss of flow and thinning of the distal right internal carotid artery (ICA) and loss of grey white matter differentiation in keeping with traumatic ICA dissection with a right middle cerebral artery (MCA) infarct. He was started on aspirin 300â mg once daily. 3â days postadmission the patient experienced worsening of vision and expressive dysphasia. CT angiogram showed bilateral ICA dissections extending from C2 to the skull base. The patient was managed conservatively in the stroke unit for infarction and was discharged home for follow-up in stroke clinic.