An atypical case of Guillain-Barré syndrome: acute intermittent porphyria.

Autor(es): Cuquemelle É,Ehrmann S,Razazi K,Deybach J C,Brun-Buisson C,Thille A W

Resumo: We report here the case of a 26-year-old women hospitalized in our intensive care unit (ICU) for acute respiratory failure associated with an acute polyradiculoneuropathy considered initially as a Guillain-Barré syndrome (GBS). Her medical history began with acute abdominal pain mimicking appendicitis while on vacation in Africa, during which time she was taking antimalarial prophylaxis. An appendectomy was performed; the postoperative period was promptly complicated by peripheral neuropathy predominating in the lower limbs. Worsening neuropathy led to respiratory failure requiring mechanical ventilation and she was transferred to our ICU. Clinical findings on admission included proximal weakness with hypoesthesia, facial diplegia, and abolished tendon reflexes, except for the Achilles reflexes; additional central nervous system signs were present including visual blurring, hallucinations, and seizures. Hypertension, sphincter dysfunction, and severe gastroparesis impeding enteral feeding were initially ascribed to dysautonomia. The cerebrospinal fluid was normal and electromyography revealed acute motor axonal neuropathy. Blood chemistry revealed hyponatremia and persistent acute renal failure despite rehydration. Given the several atypical features for GBS, the diagnosis of acute intermittent porphyria (AIP) was finally suspected with significant delay. We confirmed AIP by the change in urine color when exposed to light and by high urinary porphobilinogen titration. Specific treatment with daily human hemin (Normosang®, Orphan Europe) was started as recommended [1], but she received a prolonged treatment as recurrent documented pulmonary infections worsened AIP (Fig. 1). AIP was controlled by administering high doses of human hemin, avoiding all contraindicated medications, controlling infections, and optimizing nutrition via a jejunostomy. The patient required over 6 months of mechanical ventilation via a tracheostomy, and is currently recovering in a rehabilitation center.

Imprenta: Intensive Care Medicine, v. 38, n. 5, p. 913-914, 2012

Identificador do objeto digital: 10.1007/s00134-012-2464-9

Descritores: Guillain-Barre Syndrome - Pathogenesis ; Guillain-Barre Syndrome - Public health

Data de publicação: 2012