Internal Medicine Essay : Chronic Intermittent Porphyria As A Possible Differential Diagnosis

1128 Words Jul 29th, 2015 5 Pages
It is not the symptom that defines a patient; it is the broad outlook. I remember my 22-year old patient who had generalized seizures associated with altered mental status and rapidly progressive weakness for all her four limbs. She had a history of seizure disorder that was being treated with medications and she did not have an episode for past 5 years. Her test results came back normal and we were unable to find the underlying cause for her condition. As the resident in charge of her case, I investigated into her medical history and discovered she had episodes of severe abdominal pain and was also photosensitive. Immediately, I thought of Acute Intermittent Porphyria as a possible differential diagnosis. I requested further testing and her urine porphobilinogen came back positive. We commenced treatment for Acute Intermittent Porphyria and thereafter the patient’s vitals improved. Furthermore, I seized the opportunity to teach the patient and her family about the disease, the symptoms and the methods to prevent future outbreaks. Her family was extremely happy with her significant improvement. They expressed their gratitude and appreciations to help them better understand the disease. The case, which began as a primary neurological and gastroenterological issue later became a hematological issue. This started my interest in Internal Medicine since I am able to learn all of these in one specialty. These made me love and enjoy my internship in Internal…

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