Radical diet revealing Dracul’s disease

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
2 Hospital Santa Teresa, Sao Pedro de Alcântara/SC, Brazil
3 Epilepsy Centre of Santa Catarina, Sao Pedro de Alcântara/SC, Brazil
4 Intoxication Control Center of the Sao Paulo City Hospital, Brazil
5 AACD – Rehabilitation Centre, Sao Paulo/SP, Brazil
www.neurologia.ufsc.br

 

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.

tabela

 

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.

 

 Discussion: We described a patient with AIP secondary to radical diet. She had typical symptoms of a attack – abdominal pain, polineuropathy and behavioral changes. She developed a autonomic neuropathy, showed by hypertension and tachycardia on admission. The strong recurrent abdominal pain and the acute peripheral neuropathy can be misdiagnosed as acute surgical abdomen and Guillain-Barre syndrome respectively. The diagnosis were performed through clinical and laboratory evidence. This metabolic defect of PBG-D, causes increased secretion of PBG in her urine. There was an AIP family history; the patient’s grandfather died by heart disease most probably caused by AIP. These symptoms are triggered by many conditions: starvation or low-carbohydrate diets – a fashion in our society nowadays or illicit drugs and medications including metoclopramide and hyoscine and she was using both. Her autonomic manifestations – hypertension and tachycardia – have been controlled with propranolol. The nerve regeneration is the rat-limiting factor to improvement of established neuropathy, hematin will have no effect on recovery. Every patient and their relatives also must be oriented about this condition and to avoid bizarre diets and dangerous drugs as well. Avoiding the risk factors most of people suffering from AIP can get a normal life by properly avoiding. Emphasize the importance of the risk about using unsafe drugs helps prevent news attacks. However, this is not easy to do nowadays, just because there are a lot of magic drugs offered by pharmaceutical industries. …every day.

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Endereço para correspondência:
Dr.Paulo César Trevisol Bittencourt
Neurologia/Departamento de Clínica Médica/UFSC
88040-970 – Florianópolis/Santa Catarina/Brasil
pcb@neurologia.ufsc.br
www.neurologia.ufsc.br