Unklarer Serumkreatininanstieg bei einem 64-jährigen Mann

A patient presented with pathologically high serum creatinine level and unplanned weight loss. Chemical analysis showed hypercalcemia, tubular proteinuria, and raised concentrations of calcitriol and angiotensin converting enzyme; computed tomography showed thoracic and abdominal lymphadenopathy and increased reticulonodular signs. Once a kidney biopsy demonstrated granulomatous interstitial nephritis and excluded other granulomatous (mycobacterial) disorders, the diagnosis could be made of sarcoidosis with pulmonary, abdominal, and renal involvement. Correct diagnosis of this disorder is difficult, especially if there is no or clinically inapparent pulmonary involvement. Sarcoidosis responds very well to corticoids such as prednisolone, the long-term administration of which is required due to the probability of relapse.     

Dysphagie,Sodbrennen und Bolusobstruktion bei einem 43-jährigen Mann

We report a case of a 43 year old male patient, who was admitted with recurring esophageal bolus impactions. Since his childhood he has been complaining about dysphagia and was unable to swallow medication. He also complained about heartburn. The last esophageal bolus impaction was some weeks ago. After elimination of the bolus impaction with a rigid endoscope we found a high grade stenosis in the proximal esophagus that could not even be passed with a childrens’ endoscope. An initial treatment of eosinophile esophagitis would be the therapy with a local corticoid for 6–9 month. In patients with typical rings or stenosis a dilation therapy might be necessary.     

Rezidivierende übelkeit bei einem 47-j?hrigen Mann

A pheochromocytoma is a rare differential diagnosis of a hypertensive crisis. This article describes the case of a patient who presented with recurrent episodes of nausea, vomiting, paleness of the skin and paroxysmal high blood pressure peaks and the most recent attack also included orthopnea with lung edema and chest pain. Pheochromocytomas arise from the chromaffin cells of the adrenal medulla and are the cause of 0.2% of arterial hypotension diseases: 85% are located in the adrenal medulla but they also occur in the thoracic and abdominal sympathetic trunk. Typical symptoms are paroxysmal or prolonged high blood pressure, headache, sweating, tachycardia and paleness of the skin. The initially diagnostic procedure includes a 24 h urine collection and testing, catecholamine testing in plasma and long term measurement of blood pressure. Localization and the search for metastases (10% of pheochromocytomas are malignant) are carried out by sonography, computed tomography or magnetic resonance tomography. Confirmation of extra-adrenal manifestations is performed by MIBG (¹²³I-metaiodobenzylguanidine) scintigraphy. Associated syndromes, such as multiple endocrine neoplasia type 2 (MEN 2) and von Hippel-Lindau syndrome, must be excluded. The definitive treatment is surgery, preceded by application of an α-adrenoreceptor as mandatory preparation, followed by a β-adrenoreceptor blockade, if necessary.     

Sekundäre retroperitoneale Fibrose nach Rektumkarzinom bei einem 39-jährigen Mann

A 39-year-old man had been treated for rectal cancer 6 years ago by lower anterior resection of the rectum and perioperative radiochemotherapy. Since then follow-up had been unremarkable but now the patient presented with unspecific lower abdominal pain. The cause of the pain was identified as paraneoplastic retroperitoneal fibrosis secondary to metachronous pulmonary metastases of the rectal cancer.     

Flankenschmerz und Proteinurie bei einem 44-j?hrigen Mann

The case of a patient with renal vein thrombosis manifesting in nonspecific symptoms such as side pain, nausea and hematuria is presented. A definitive diagnosis was established using computed tomography. Concomitant nephrotic syndrome, a common accompanying disease of renal vein thrombosis, was caused by glomerulonephritis in our patient. This could be clarified, after 8 months of coagulation therapy for the thrombosis, by means of renal biopsy and was treated with ciclosporine. When treated appropriately (anticoagulation therapy) renal vein thrombosis with nephrotic syndrome does not carry an increased risk of mortality.     

Solide Raumforderung der Milz bei einem 55-jährigen Patienten

Zusammenfassung Ein 55j?hriger Patient wird wegen postprandialer Oberbauchbeschwerden internistisch untersucht, urs?chlich findet sich eine chronische B-Gastritis mit einem Ulcus duodeni, ferner besteht ein Gallensteinleiden. Als Nebenbefund wird sonografisch eine solide Raumforderung der Milz erfa?t, deren Genese erst histologisch am Splenektomiepr?parat gekl?rt werden konnte: Splenome sind au?ergew?hnlich seltene Hamartome der Milz, die intra vitam in der Regel als Zufallsbefund erfa?t werden. Es existiert daher auch keine wegweisende klinische Symptomatik; laborchemische Befunde sind unspezifisch. Zur weiteren diagnostischen Zuordnung ist die Kernspintomografie hilfreich; beweisend ist jedoch erst die histologische Untersuchung. Das Splenom ist neben H?mangiom, prim?ren Lymphom und Teratom eine seltene Differentialdiagnose der soliden Raumforderung der Milz.     

Muskuläre Schwäche und beginnendes Leberversagen bei einem 22-jährigen Mann

A 22-year-old man without pre-existing medical conditions presented to our hospital with a progressive reduction of his physical overall performance, muscle weakness of the extremities, and diarrhea for the last 2 months concomitant with elevated liver enzymes and creatine kinase activity. After ruling out infectious diseases, neoplasia, and autoimmune disorders as a cause of these symptoms, the histology of liver and muscle samples led us to suspect a diagnosis of a rare lipid metabolism disorder. Molecular biologic testing provided the diagnosis of multiple acyl-coA dehydrogenase deficiency with ubiquinone deficiency and late onset. The course of disease was complicated by liver failure and severe pneumonia requiring ventilatory assistance. With the substitution of riboflavin and ubiquinone, the patient showed a gradual recovery of his clinical presentation and an improvement of his laboratory tests. A congenital lipid metabolic disorder might be a rare cause of severe myopathy and hepatopathy in a young adult.     

Alopecia totalis, Hypotonie und erektile Dysfunktion bei einem 34-jährigen Mann

The occurrence of both autoimmune endocrinopathies and endocrinopathies caused by other reasons is called polyglandular autoimmune syndrome (PAS-syndrome). In a 34 years old man with weakness, weight loss and erectile dysfunction we found low cortisol caused by an autoimmune adrenalitis and low testosterone caused by a hypophysitis with impaired gonadotropin secretion. Thyroid autoantibodies and islet cell autoantibodies without any hormone deficiencies were further signs of a broad endocrine autoimmune syndrome. In the following 11 years the patient developed three autoimmune disorders: paradrenal glandular insufficiency, hypogonadism caused by hypophysitis, Diabetes mellitus type 1. In the same time several non endocrine autoimmune diseases became manifest: alopecia totalis, vitiligo, retrobulbar neuritis and keratoconjunctivitis.     

Generalisiertes Schmerzsyndrom, Fieber und Somnolenz bei einem 81-jährigen Patienten

Zusammenfassung Vorgestellt wird der Fall eines 81-jährigen diabetischen Patienten mit anaerober Sepsis aufgrund einer steinfreien Cholezystitis. Der Patient wurde mit einer 7-tägigen Anamnese von schweren abdominellen Schmerzen verbunden mit Fieber und Somnolenz aufgenommen. Bei der Aufnahme abgenommene Blutkulturen wiesen eine Infektion mit Clostridium perfringens nach. Der Patient wurde sofort parenteral mit Penizillin behandelt. Als Verursacher der Sepsis konnte mittels Sonographie die Gallenblase erkannt werden. Diese zeigte sich dilatiert und leicht verdickt in Form einer akuten nicht-emphysematösen Cholezystitis. Bei der therapeutischen Punktion der Gallenblase wurden große grampositive Stäbchen gefunden, die ebenfalls als Clostridium perfringens identifiziert wurden. Der weitere klinische Verlauf war unter fortgeführter Antibiose unauffällig. Der Patient konnte nach 13 Tagen in stabiler Verfassung entlassen werden.     

Hämolytische Krise bei einem 34-jährigen Westafrikaner

Zusammenfassung Bei Patienten aus afrikanischen, asiatischen oder mediterranen L?ndern, die mit Fieber, Ikterus, abdominalen Beschwerden, Splenomegalie und H?molyse erkranken, ist neben dem Vorliegen einer Plasmodieninfektion (Malaria) immer auch an eine h?molytische Krise im Rahmen einer H?moglobino- oder Enzymopathie der Erythrozyten zu denken. Beschrieben wird das Krankheitsbild eines 34-j?hrigen Afrikaners aus Burkina Faso, der unter Malariaverdacht station?r aufgenommen wurde. Die klinische Symptomatik war vergleichbar, eine sorgf?ltige Inspektion des Blutbildes ergab jedoch durch den Nachweis von Target-Zellen den Hinweis auf eine H?moglobinopathie, die sich dann als HbC-Anlage mit zus?tzlich vorliegendem Glucose-6-Phosphat-Dehydrognase-Mangel erwies. Angeborene korpuskul?re h?molytische An?mien (Membranproteindefekte, Stoffwechseldefekte, Globulinsynthesedefekte) sind im mitteleurop?ischen Raum eher seltene Ursachen h?molytischer Krisen. Weltweit sind jedoch weit über 400 Mio. Menschen betroffen [9], überwiegend in afrikanischen und asiatischen L?ndern. Die Pr?valenz der einzelnen Defekte kann regional bis zu 14% betragen [2].     

Dyspnoe und Gewichtsverlust bei einem 70-jährigen Patienten

A 70-year-old man presented with subacute dyspnea, cough, weight loss, and mild fever. Blood analysis revealed an elevated C-reactive protein level. Chest x-ray and CT of the chest showed alveolar opacities with a migratory tendency during the clinical course. After extensive diagnostics, treatment with prednisolone under the presumed diagnosis of a cryptogenic organizing pneumonia was started, which lead to a rapid clinical response.     

B-Symptomatik und Kauclaudicatio bei einem 79-jährigen Patienten

A 79-year-old patient presented with weight loss, subfebrile body temperature and unclear jaw pain. After ruling out malignant and infectious causes, positron emission tomography-computed tomography (PET-CT) revealed markedly elevated glucose utilization of the large thoracic and upper limb arteries, suggesting systemic vasculitis. Color-coded duplex sonography confirmed thickening of the wall of the external carotid artery consistent with vasculitis. The patient was diagnosed with giant cell arteritis involving the large thoracic arteries and the upper limb arteries but without involvement of the superficial temporal artery. Based on the involvement of the external carotid artery, the jaw pain could be classified as jaw claudication. Clinical and laboratory remission was achieved with systemic glucocorticoids which could subsequently be tapered. The patient is well and asymptomatic 12 months after diagnosis and 2 months without steroids.     

Hyperperfusionssyndrom nach Karotisstentangioplastie bei einem 77-jährigen Patienten

Cerebral hyperperfusion following carotid artery stenting represents a rare neurological complication. It is characterized by ipsilateral headache, focal neurological symptoms, seizures and intracerebral oedema or haemorrhaging. Restriction of the intracerebral perfusion caused by high grade ipsilateral and/or contralateral carotid stenosis, previous contralateral carotid revascularization and preinterventional, peri-interventional and postinterventional hypertension are regarded to be risk factors. Cranial computed tomography (CT) and diffusion-weighted magnetic resonance imaging (MRI) might show normal findings for hyperperfusion syndrome. The most important aspects of prophylaxis and treatment are controlling the hypertension in a specialized intensive care unit.     

Chronische Diarrhö bei einem 43-jährigen Patienten

A 43-year old patient came to our clinic with chronic diarrhea. Determination of the faecal alpha 1-antitrypsin-clearance led to the diagnosis of exsudative enteropathy. Blood counts showed pronounced lymphocytopenia. Histopathological findings from intestinal and colorectal biopsies showed diffuse lymphangiectasis. Following exclusion of secondary types, our diagnosis was primary intestinal lymphangiectasis. Additional distinctive morphological and anamnestic features strongly suggested presence of Noonan's syndrome. Characteristic manifestations of Noonan's syndrome include changes in the lymphatic vessels in accordance with primary lymphangiectasis. Frequently, these changes are localized in the lungs. To date, only rare cases of intestinal lymphangiectasia in Noonan's syndrome have been reported. Treatment consisted of a protein-rich diet, with reduced fat content enriched by middle-chain fatty acids, as well as twice-daily injections of 200 micrograms octreotide. With this therapy, the symptoms improved.     

Obere gastrointestinale Blutung bei einem 19-jährigen Patienten

Die Gastroenterologie -     

Akuter Kiefer-Thorax-Schmerz und Synkope bei einem 41-jährigen Patienten

A 41-year-old physically active man with no significant past medical history presented with sudden thoracic pain. The patient was referred to the next tertiary care hospital. A CT scan showed an ectasia of the ascending aorta with irregularities of the aortic wall without dissection. Despite initial refusal, the patient was referred to a university hospital with experience in aortic surgery. A triphase ECG-synchronized cardiothoracic flash protocol performed on a 256 line CT scanner confirmed an aortic intramural hematoma and a covered aortic perforation. Shortly afterwards the patient collapsed and had to be resuscitated.