Jens-Albrecht Koch

Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results

Abstract.Objective:. Since 1991, enzyme replacement therapy (ERT) has been available for patients with Gaucher disease in Germany. The aim of this study was to analyse the MR pattern of bone marrow involvement and response to ERT in Gaucher disease type I. Patients and design:. Thirty patients with Gaucher disease type I had MRI examinations prior to initiation of ERT with alglucerase/imiglucerase and during follow-up. Median MR follow-up and duration of ERT were 36 months. Coronal T1- and T2-weighted spin-echo images of the lower extremities were obtained to evaluate changes in the appearance of yellow marrow. MR images were categorized as having either a homogeneous (type A) or non-homogeneous patchy (type B) appearance of bone involvement and response to ERT was assessed by two radiologists. Results:. Overall, 19 of 30 patients (63%) showed an increased signal intensity on T1- and T2-weighted images after 36 months of ERT, consistent with partial reconversion of fatty marrow during treatment. Focal bone lesions surrounded by a low signal intensity (SI) rim did not respond to ERT, suggesting bone infarcts. Of the 11 patients with bone infarcts (low SI rim lesion), 82% had the non-homogeneous type B pattern (P=0.0021). In 86% of patients with splenectomy, bone infarcts were seen (P<0.05). Conclusions:. MRI using T1- and T2-weighted spin-echo sequences is a valuable, non-invasive method for monitoring bone marrow response in patients receiving ERT. A non- homogeneous patchy signal intensity of bone marrow involvement correlates with the presence of bone infarcts (P=0.0021).

Azygos continuation syndrome with aneurysm of the azygos vein: CT and MR appearances.

We present a case of azygos vein continuation with aneurysm of the azygos vein simulating a tumor in the right upper mediastinum. The dynamic CT examination initially showed a structure of malignant appearance during the early arterial phase. Further dynamic CT revealed marked enhancement of the mass during the late venous phase, suggesting a vascular structure. Confirmation of diagnosis was made by MRI using a fast gradient echo imaging technique in cine mode, showing turbulent flow in the azygos aneurysm, and contrast-enhanced MR angiography, demonstrating a dilated azygos vein. Dynamic CT has a potential pitfall in the diagnosis of vascular structures.

Type I Gaucher disease: extraosseous extension of skeletal disease

Abstract  Objective. To investigate the frequency and morphology of extraosseous extension in patients with Gaucher disease type I. Design and patients. MRI examinations of the lower extremities were analyzed in 70 patients with Gaucher disease type I. Additionally, the thoracic spine and the midface were investigated on MRI in two patients. Results. Four cases are presented in which patients with Gaucher disease type I and severe skeletal involvement developed destruction or protrusion of the cortex with extraosseous extension into soft tissues. In one patient, Gaucher cell deposits destroyed the cortex of the mandible and extended into the masseter muscle. In the second patient, multiple paravertebral masses with localized destruction of the cortex were apparent in the thoracic spine. In the third and fourth patient, cortical destruction with extraosseous tissue extending into soft tissues was seen in the lower limbs. Conclusions. Extraosseous extension is a rare manifestation of Gaucher bone disease. While an increased risk of cancer, especially hematopoietic in origin, is known in patients with Gaucher disease, these extraosseous benign manifestations that may mimic malignant processes should be considered in the differential diagnosis of extraosseous extension into soft tissues. A narrow neck of tissue was apparent in all cases connecting bone and extraosseous extensions.

Gaucher disease of the spleen: CT and MR findings.

We present a 26-year-old male patient with Gaucher disease who presented with epigastric pain and a palpable mass in the left abdomen. Ultrasound, abdominal computed tomography, and magnetic resonance imaging showed massive splenomegaly with multiple splenic nodules up to 7 cm in diameter. Splenic nodules should be included in the differential diagnosis of splenic masses. Follow-up is necessary because of the increased incidence of hematologic malignancies in Gaucher disease.

A rapid and reliable semiautomated method for measurement of total abdominal fat volumes using magnetic resonance imaging

The aim of this study was the development of a reliable and fast method to estimate total abdominal fat volumes (TAF) in diabetic subjects on the basis of T1-weighted MR images. Thirty-seven patients with diabetes were examined (age 48 +/- 13 y mean +/- SD). A semiautomated computer assisted software program was developed to quantify intraabdominal (IAF), subcutaneous (SCF), and total abdominal fat volumes (TAF). The variability of image analysis for fat measurements between two observers and within observers was assessed. Mean volumes (+/- SD) for IAF, SCF and TAF were 10.5 1 (+/- 5.0 1), 15.1 1 (+/-7.3 1) and 25.7 1 (+/-11.5 1), respectively. Inter- and intraobserver reliability was excellent (r = 0.999 to r = 1.0). Per patient, the analysis required nine minutes in addition to a scan duration of seven minutes. As this analytic method using T1-weighted MR images allows a fast and reliable quantification of TAF, IAF and SCF, it may serve as a valuable tool for respective studies in diabetic subjects.

Right and left ventricular volume measurements in an animal heart model in vitro: first experiences with cardiac MRI at 1.0 T.

Abstract. The aim of this study was to determine the accuracy in quantifying right and left ventricular volumes using a 1.0-T system and commercially available, standard equipment. For exact comparison of MRI measurements and real volumes we used an animal heart model ex vivo. Eight pig hearts were explanted and prepared by removal of the atria. Aorta and pulmonary truncus were cannulated. Definable volumes were injected into the ventricles. Magnetic resonance imaging was performed at 1.0 T (Gyroscan T10 NT, Philips, Eindhoven, The Netherlands); sequence: fast field echo–echo planar (multishot EPI); body coil; MR software: Cardiac Application Package (Philips). Statistical analysis correlated the real volumes and MR measurements separately for both ventricles and two investigators (SAS, ANOVA). For both ventricles and both investigators the correlation between real volumes and MR measurements was greater than 0.99. There was no significant systematic false estimation for both ventricles. Magnetic resonance imaging at 1.0 T using standard hardware and software equipment enables the quantification of right and left ventricular volumes with high approximation to the real volumes in vitro. There is a clear restriction in translating these data into a clinical application because under experimental conditions no motion-induced artifacts existed.

Long‐Term Follow‐Up of Left Ventricular Pacing via a Posterior Cardiac Vein After Mechanical Tricuspid Valve Replacement

WINTER, J., et al.: Long‐Term Follow‐Up of Left Ventricular Pacing via a Posterior Cardiac Vein After Mechanical Tricuspid Valve Replacement. Permanent cardiac pacing was recommended in a 66‐year‐old woman with mechanical prosthetic mitral and tricuspid valves. To avoid a thoracotomy, a conventional endocardial lead was inserted with a steerable stylet (Locator) into the posterior cardiac vein via the right cephalic vein. Four weeks later, lead dislodgement required reoperation. The lead position remained stable up to 29 months.

Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.

Abstract. Gauchers disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gauchers disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gauchers disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gauchers disease.

Entwicklung einer lipoiden Pneumonie als Folge einer intravenösen Injektion von Lampenöl in suizidaler Absicht

ZusammenfassungHintergrund: Pneumonische Komplikationen, resultierend aus Ingestionen mit Mineralölen, wurden bislang zumeist auf dem Boden von versehentlichen Aspirationen sowie bei oraler Aufnahme beschrieben. Eine intravenöse Applikation eines Mineralöls ist eine Rarität. Kasuistik: Ein 20-jähriger Patient stellte sich nach intravenöser Injektion von 20 ml Lampenöl in suizidaler Absicht stationär vor. Er war tachypnoisch und litt unter starkem Husten mit zähem weißlichen, schleimigen, in der Folge auch blutigen Auswurf. Bei der Aufnahmeuntersuchung waren Röntgenaufnahme des Thorax, EKG- und Laborbefunde unauffällig bei einer spontanen transkutanen Sauerstoffsättigung von 85%. Das initial durchgeführte Echokardiogramm wies jedoch Zeichen der Rechtsherzbelastung auf. Die am Folgetag durchgeführte Röntgenthoraxkontrolluntersuchung, thorakale Computertomographie sowie Lungenperfusionsventilationsszintigraphie erbrachten eindeutige Zeichen diffuser Lungenembolien mit begleitender entzündlicher Reaktion im Sinne einer lipoiden Pneumonie. Zusätzlich entwickelte der Patient das Bild einer larvierten Verbrauchskoagulopathie. Unter einer Therapie mit Hydrocortison, Ambroxol, Ascorbinsäure, Acetylcystein, Heparin, Antibiotika und Sauerstoffgabe besserte sich das klinische Bild einerseits, andererseits normalisierten sich die beschriebenen objektiv pathologischen Parameter. 9 Tage nach Injektion wurde der zunehmend stabilisierte Patient von der Intensivstation in die psychiatrische Klinik verlegt. Schlussfolgerung: Lipoide Pneumonien, verursacht durch Mineralölintoxikationen, sind schwerwiegende Erkrankungen, wobei in dem hier dargestellten Fallbericht ein relativ blander Verlauf beobachtet wurde. Möglicherweise bietet sich das hier angewandte Behandlungsregime auch für andere pneumologische Komplikationen ähnlicher Pathogenese an.AbstractBackground: Pneumonic complications after intoxication with mineral oils have been described before in the contents of accidental aspiration and oral ingestion. However, intoxication following an intravenous injection leading to a lipoid pneumonia after an attempted suicide is a rare finding. Case Report: A case report is presented of an attempted suicide by intravenously self-injection of 20 ml lamp oil (liquid paraffin). Immediately after injection the patient suffered from dry coughing which changed in the course of the next hours into a productive cough with white thick mucous sputum accompanied by hemoptysis. Additionally, he developed a mild disseminated intravascular coagulation with a fall of thrombocytes, an INR of 1.6 and a rise of D-dimeres. Under a therapy with hydrocortisone, ascorbic acid, ambroxol, acetylcysteine, heparin, antibiotics and oxygen, the patient improved without the need of mechanical ventilation. Initially seen signs of right heart dilatation diminished 3 days after onset of therapy. Apart from pulmonal manifestation no relevant organ damage was observed. The patient was discharged from the intensive care unit 9 days after intoxication and was submitted to psychiatric therapy. Conclusion: Lipoid pneumonia caused by intoxication with a mineral oil is a severe disease, whereas in the presented case a relative bland course of the disease has been seen. The employed therapy in this patient might be encouraging for a comparable treatment of pneumological complications resulting from similar clinical pictures.

In vitro determination of cardiac ventricular volumes using MRI at 1.0 T in a porcine heart model.

Purpose: To determine the accuracy of a 1.0 T MR system with a standard gradient system for quantification of left and right ventricular volumes. A porcine heart model in vitro was used. Methods: In eight explanted porcine hearts the atria were removed and the aorta and the pulmonary truncus were cannulated. Defined volumes were injected into the ventricles. Magnetic resonance imaging (MRI): FFE-EPI (Multishot EPI) was used. Papillary muscles and trabeculae were excluded. True volumes and MR measurements were analysed separately for both ventricles and by both investigators. Results: The correlation of the true volumes and MR measurements was > 0.99. MRI was found to be investigator independent in assessing right and left ventricular volumes in vitro. Conclusions: MRI at 1.0 T using standard equipment can be used to quantitate cardiac ventricular volumes in vitro with high accuracy.