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A 58-year-old woman with an 8-year history of seropositive rheumatoid arthritis was admitted with right hemiparesis, history of seizures, fever, weight loss and headaches. Her blood tests revealed the presence of rheumatoid factor, elevated C-reactive protein and anti-cyclic citrullinated peptide antibodies (>200 RU/ml). Examination of cerebrospinal fluid demonstrated pleocytosis (118 cells/mm(3), predominantly lymphocytes) with elevated protein level (58 mg/dl); cultures were negative. Magnetic resonance imaging findings were suggestive for meningoencephalitis. Short course of high-dose corticosteroids and cyclophosphamide led to clinical improvement. Rheumatoid vasculitis was probably responsible for neurological symptoms.

Acute respiratory failure is one of the most frequent reasons for hospitalization in intensive care units (ICU) [1]. Dyspnea, reflected by hypoxemia and in some cases also by hypercapnia and respiratory acidosis in blood gas analysis, dominates in the clinical presentation. A disproportion between alveolar ventilation and pulmonary blood flow is usually the reason for hypoxemia and less often gas diffusion impairment across the air-blood barrier. The main mechanism of hypercapnia is alveolar hypoventilation which may be of neurological origin. The most frequent disorders associated with the peripheral nervous system are myasthenic crisis and acute polyneuropathies, especially acute inflammatory polyradiculoneuropathy, known as Guillain-Barré syndrome (GBS). It may lead to respiratory muscle paralysis, while in myasthenia muscle fatigue increases gradually. As a result of hypoventilation atelectasis occurs, and impairment of swallowing and cough reflexe predisposes to pneumonia which aggravates the respiratory failure. In such an event an immediate initiation of respiratory failure treatment in the ICU and the most rapid causative management are crucial [1]. Plasmapheresis (plasma exchange) is the management of choice in acute respiratory failure associated with GBS and myasthenic crisis [2,3]. The

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Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of α-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still being continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia, low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA.