Radical diet revealing Dracul’s disease
Trevisol-Bittencourt PC 1,2,3, Tournier MB 1,5, Collares CF 4, Tomaselli PJ 1, Câmara R 1, Bittencourt FS 2
1 Federal University of Santa Catarina, Florianópolis/SC, Brazil
Backgrounds: Acute intermittent porphyria (AIP) is an autossomal dominant disease that results from defects in the enzyme porphobilinogen deaminase (PBG-D). Which speeds the conversion of porphobilinogen to hydroxymethylbilane. In AIP, the porphyrin precursors, porphobilinogen and amino-levulinic acid (ALA), accumulate. The latent form of the disease may exist indefinitely, but certain drugs, infections, and excessive dieting with starvation or low-carbohydrate diets can precipitate it. The most common drugs are sulfonamides and barbiturates (Table 1). In AIP the erythrocytes are prematurely destroyed, it cause erythrodontia, coetaneous photosensitivity (leading to mutilating skin lesions), hemolytic anemia, splenomegaly, and hypertrichosis. The clinical features depends by the accumulation of the ALA in different locations of the body. The predominant problem appears to be neurologic damage that leads to peripheral and autonomic polineuropathies, recurrent abdominal pain, and psychiatric manifestations (depression, irritability, hallucinations, confusion, paranoia, and catatonia). The neurological dysfunction can involve any portion of the nervous system. It is believed that an imbalance in the autonomic innervation’s of the gut leads to abdominal pain, cold have peripheral neuropathy too, such as pain in the back and legs or parathesias. Complete flaccid paralysis can develop over a few days. Other autonomic neuropathies that may be seen are sweating, vascular spasm, labile hypertension, and sinus tachycardia. A grave sign is the development of respiratory paralysis and in very severe attacks patients are unable to speak, breathe, or swallow. Central nervous dysfunction can be seen as well with hallucinations, seizures, coma, bulbar paralysis, hypothalamic dysfunction, or cerebelar and basal ganglion involvement. The mythological Romanian character Dracul was the most famous sufferer of this disease.
Methods: To describe a young woman presenting AIP secondary to radical protein based diet.
Case report: OBL, 20 year-old, came to the emergency service due low limb bilateral weakness, severe abdominal pain, nausea and vomiting. Since a month before she has been visiting emergency rooms from all hospitals in the city complaining the same symptoms, and always been treated with administration of metoclopramide and hyoscine and a firmly recommendation was made to his father…she must look for psychological assistance. The patient had no history of psychiatric illness, sensitivity to the sun, smoking, drinking, or illicit drug use. But had started two months before a high-protein-based and low-carbohydrate diet for losing weight. The clinical examination showed blood pressure 150/100mmHg, cardiac frequency 120 beats per minute. The neurological examination showed universal diminished deep reflexes and muscular weakness mainly in the extremities. Auscultation of the abdomen revealed reduced bowel sounds. She had emotional lability as well. Her urine presented urobilinogen. Exposed to the light, the color of the urine became different – port wine urine. Porphobilinogen (PBG) were detected in her urine exam.
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