Volume 15 (2018): Issue 4 (August 2018)

Introduction. Registries are necessary particularly for rare diseases. The REGIS registry was developed to improve scientific research in the field of interstitial lung diseases (ILDs).

Material and Method. We analysed 144 patients with interstitial lung diseases enrolled during a three year period, selected the sarcoidosis cases and analysed the data with Excel 2007 Software.

Results. A number of 26 sarcoidosis patients were included (18.06% out of the total), of which 46.15% were female, with an average age of 41.34±9.84 years; 23.08% were smokers. 88.46% pf patients had mediastinum pulmonary involvement: stage II in 17 patients, stage III in 5 patients and stage IV in one patient; only 3 patients had extra thoracic involvement. The medical investigations performed were: chest X-ray (96.15%), thoracic HRCT (96.15%) that identified hilar adenopathy (96%), nodules (68%), with peribronchovascular localization (44%); spirometry (96.15%) that revealed an average CV of 94.99±23.07% out of the predicted value, DLCO 78.41±19.39% out of the predicted value; bronchoalveolar lavage (38.46%); serum angiotensin-converting enzyme (73.08%) and pulmonary or lymph node biopsy (80.77%). The patients that needed treatment (46.15%) were administered oral corticosteroids (10 patients), acetylcysteine (1 patient) and pirfenidone (1 patient).

Conclusions. The number of patients enrolled is low as a result of the voluntary reporting, especially in severe cases and with access to all investigations needed for diagnosing.

Alpha lipoic acid is an antioxidant substance used for the pathogenic treatment of diabetic neuropathy, oxidative stress being a central mechanism in diabetic microvascular complications. Our study included 24 diabetes mellitus patients with diabetic neuropathy and 20 healthy subjects. Diabetes patients were given alpha lipoic acid 600 mg intravenously for 10 days and then per os for 30 days.

Significant improvements were observed concerning oxidative stress evaluated by measuring serum malondyaldehide and ceruloplasmin. The clinical characteristic of neuropathy improved, both the level of pain decreased and the vibration perception threshold increased. Our study demonstrated a two times higher level of oxidative stress in patients with diabetes compared to healthy subjects, and that by influencing oxidative stress we could influence the clinical aspects of neuropathy. Further investigations need to be done to explore the pleiotropic effects of alpha lipoic acid on other mechanisms that are implicated in the pathogenies of diabetic neuropathy.

Posterior reversible encephalopathy syndrome is a rare manifestation of systemic lupus erythematosus, characterized by altered mental status, headache, convulsions, visual field impairment and posterior and reversible alterations on imaging scans^(1,2). The clinical picture develops over a few hours, presenting with rapidly progressive neurological symptoms⁽³⁾. It was first described in 1996. It is more frequent in patients with acute kidney injury or chronic kidney disease, thus in lupus patients with kidney disorders. It is associated with hypertension, other autoimmune diseases beside lupus, immunosuppressive therapies, especially antibody-based immunosuppressive therapy, and organ transplantation. It is clinically reversible within one week and imaging changes resolve within 2-4 weeks. It is treatable and has a good prognosis. We present the case of a young woman of 27 years, diagnosed with systemic lupus erythematosus who developed convulsive seizures, headache, visual impairment, being under immunosuppressive therapy with azathioprine. The kidney biopsy revealed class IV lupus nephritis and partial remission of the nephrotic syndrome. The other manifestations of SLE in this patient were cutaneous, immunological, articular and haematological. The patient had a good short, medium and long-term prognosis at 30 days and also at 6 months.

Cardiac myxoma is the most common adult cardiac tumor, with an incidence of 1: 1,000,000 in the general population. Usually occurring between 4-6 decades of life, especially in women, most of the myxomas appear sporadically and are of unknown etiology. Rare cases are genetically determined. Sudden death can occur in 15% of cases. While papillary tumors often complicate coronary or systemic thromboembolism, solid tumors, ovoids, cause heart failure by obstructing the mitral orifice. From a clinical point of view, the atrial myxoma may mimic a valvulopathy, heart failure, dilatation cardiomyopathy, bacterial endocarditis, and may cause heart rhythm disorders, syncope, myocardial infarction and systemic or pulmonary thromboembolism. I will present the case of a giant atrial myxoma, intermittent obstructive of the mitral orifice, evolving towards global heart failure. The lack of severe acute complications during the most likely long-lasting evolution represents an undiscovered curiosity.

Leptospirosis is a spirochaetal zoonosis, with a broad spectrum of clinical manifestations, ranging from mild (febrile illness) to fulminant forms (systemic disease with jaundice and kidney failure – Weil's disease).

We present the case of a 62 year old patient, with no personal pathological incidents, brought to the emergency room for fever, chills, myalgia, nausea, vomiting, abdominal pain, for 14 days, with jaundice, shortness of breath, and confusion for 72 hours. Clinical examination revealed fever, confusion, jaundice, tachypnoea, tachycardia, irregular heart rhythm, hypotension, anuria, hepatomegaly, no clinical signs of liver cirrhosis or flapping tremor. Laboratory tests revealed leucocytosis with neutrophilia, hepatic cytolysis, renal failure, rhabdomyolysis, while the imagistic investigations were normal. Serological tests were performed for viral, drug induced hepatitis, autoimmune diseases, other infectious diseases (Elisa and ultramicroscopic agglutination tests were positive for leptospirosis). Later, the patient's condition worsened, resulting in intubation and mechanical ventilation, persistence of febrile syndrome and jaundice, bilateral lower limb petechiae with hepatic encephalopathy. Broad spectrum antibiotics (Ceftriaxone and Penicillin G), dialysis, hydroelectrolytic rebalancing, Dopamine support, antiarrhythmic drugs were administered, and the hepatic encephalopathy was also treated. The outcome was favourable (extubation, resolution of febrile syndrome, inflammation, jaundice and hepatic encephalopathy).

This case is an example of atypical, monophasic leptospirosis which is common in Weil's disease (the most severe form of leptospirosis), with onset as a febrile illness leading to multiple system organ failure.

Introduction. Celiac disease is a chronic bowel disease with a prevalence of 1% in the general population. This condition, immune-mediated, may exhibit multiple extra-intestinal changes, including the liver.

Case presentation. We present the case of a 43-year-old patient presenting in our clinic for fatigue, associated with cytolytic and cholestatic hepatic syndrome with an onset of 10 years. During this time, the patient performed multiple investigations with the exclusion of viral, autoimmune etiology, primitive biliary cirrhosis and Wilson's disease. An abdominal ultrasound recorded an elongated, with an infundibular septum gallbladder. Abdominal computer tomography did not detect any changes. The final diagnosis is chronic alithiasic cholecystitis receiving hepatoprotective treatment with symptom relief and improved hepatic disorders. Over the past 2 years, the patient was diagnosed with osteoporosis (T score = -2.7 followed by treatment with Calcium and Vitamin D and improvement in T score to -2.1), and an iron deficiency anemia corrected with oral iron treatment. Upon resuming the anamnesis, we notice the presence of an intermittent bloating associated with diarrhea. Positive anti-transglutaminase antibodies required upper endoscopy with biopsy witch confirmed celiac disease.

Conclusion. Despite the rather low prevalence of celiac disease in the etiology of hepatocytolysis, it is important to investigate its presence in the context of hepatic changes with uncertain etiology. This case motivates us to be rigorous in looking for secondary causes of hepatic impairment even in patients with apparently benign changes.

We report a case of a 69-year-old woman who is followed since seven years for persistent blood hypereosinophilia up to 5100/mmc. She has been extensively investigated for other diseases known to induce hypereosinophilia, including allergies, parasitic infections and neoplasia. No end-organ dysfunction could be confirmed. We considered a possible primary hypereosinophilic syndrome (HES) and determined the genetic mutation FIP1L1-PDGFRA characteristic for HES, which was negative.

Bone marrow showed reactive eosinophilia with no malignant cells and rare mast cells, less than 15 in aggregates, which is the major criterion for diagnosing mastocytosis. Knowing the association between HES and mastocytosis, we measured and found high serum tryptase levels and positive c-kit D816V genetic mutation, characteristic for systemic mastocytosis. The patient was closely monitored, with regular hematologic and clinical evaluation, mainly for cardiac and neurologic manifestations.

A short trial of high dose corticotherapy induced remission of hypereosinophilia, but this could not be maintained with lower doses. The clinical outcome during follow-up period was rather good, except mild cognitive decline and atrial fibrillation.The reported case is illustrative for versatile presentation and difficulties in management of hypereosinophilia in clinical practice.

Introduction. Diabetes mellitus is one the most frequent pathologies that affect the general population in the modern era, infections being one of the main reasons why the diabetic patient will present to an emergency room. The diabetic patient can develop infections with various germs and locations, that have a tendency to reoccur and have an unfavourable evolution compared to the general population.

Case report. A 71 year old female patient, diabetic and with significant cardiovascular pathology is admitted with a persistent febrile syndrome after 7 days on antibiotic treatment for respiratory infection. She had recently had a neurosurgical evaluation for lumbar pain; radiology had shown a compression of the T12-L1 vertebral bodies, the neurosurgeon stating that surgery was not recommended because of the associated pathologies. Clinical examination reveals a poor general state, fever, pulmonary: bilateral basal subcrepitant rales, BP = 100/60 mmHg, AV = 100 BPM irregular. Blood work showed: leucocytosis with neutrophilia, inflammatory syndrome with high procalcitonin levels, hyperglycinaemia, nitrogen retention; chest X-ray shows stasis and the echocardiography EF 25%. The complete clinical examination detected a right inguinal abscess, that had a slow, favourable evolution after drainage and antibiotic therapy according to the antimicrobial susceptibility testing (AST) (blood culture with staph, wound culture with E.Coli). After 2 weeks, the antibiotic therapy was discontinued because of the favourable clinical and lab work evolution; after 24 hours the patient is febrile again, the leucocytosis and inflammatory syndrome reappear without any other clinical changes. The infectious assessment was redone: sterile wound cultures, sterile urine cultures, no valvular vegetation on echocardiography, a CT of the chest, abdomen and pelvic area suggestive for T12-L1 spondylodiscitis.

Conclusions. The etiological diagnosis of the febrile syndrome in a diabetic patient can be extremely difficult in practice. In our case, the patient had not noticed the inguinal abscess and the lumbar pain (that restrained her to bed) represented an important sign, easily ignored in the obvious infectious context.