Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother - case report and clinical implications.

BACKGROUND: Antithrombin deficiency (ATD) is an autosomal dominant thrombophilia presenting with varying phenotypes. In pediatric patients with ATD, thrombosis typically develops during the neonatal period or adolescence. However, to date there are no consistent recommendations on the therapeutic management of children with ATD. Inferior vena cava atresia (IVCA) belongs to a range of congenital or acquired vena cava malformations and is described as an independent risk factor for thrombosis. The present case report explores two cases of combined ATD and IVCA in an adolescent and his mother. CASE PRESENTATION: A 14-year-old male presented with extensive deep venous thromboses (DVTs) of both lower extremities as well as an IVCA. The patient had previously been diagnosed with an asymptomatic ATD without therapeutic consequences at that time. His mother was suffering from an ATD and had herself just been diagnosed with IVCA, too. The DVTs in the adolescent were treated by systemic anticoagulation and catheter-directed local thrombolysis causing favourable results. Yet, despite adequate oral anticoagulation the DVTs in both lower extremities reoccurred within 1 week after the patient was discharged from hospital. This time, thrombolysis could not be fully achieved. Surprisingly, probing and stenting of the IVCA was achieved, indicating an acquired IVCA which could have occurred after undetected thrombosis in early childhood. Genetic analyses showed the same mutation causing ATD in both son and mother: heterozygote missense mutation c.248 T > C, p.(Leu83Pro), within the heparin binding domain of antithrombin. This mutation was never reported in mutation databases before. CONCLUSIONS: To our knowledge this is the first case report discussing combined ATD and IVCA in two family members. Since ATDs present with clinical heterogeneity, taking a thorough family history is crucial for the anticipation of possible complications in affected children and decisions on targeted diagnostics and therapeutic interventions. Affected families must be educated on risk factors and clinical signs of thrombosis and need an immediate diagnostic workup in case of clinical symptoms. IVCA in patients with ATD could occur due to thrombotic occlusion at a very early age. Therefore, in case of family members with IVCA and ATD ultrasound screening in newborns should be considered.

[Chronic nonbacterial osteomyelitis : Imaging and differential diagnoses]. / Chronische nichtbakterielle Osteomyelitis : Bildgebung und Differenzialdiagnosen.

Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease in childhood and adolescence with a preference for the female gender. It is manifested with multiple osseous lesions, with a predilection for the metaphyseal end zones of the long bones of the lower extremities. These bone lesions usually occur multifocally, can recur and develop a different appearance depending on the bone structure affected. Patients present with a longer disease history, changing clinical symptoms and unspecific paraclinical signs. Magnetic resonance imaging (MRI) is the imaging of choice and particularly as a whole body examination can speed up the diagnosis and is an important component of follow-up controls. Differential diagnoses include numerous inflammatory, benign and malignant bone diseases. Therefore, it is essential to know the diagnosis of CNO and to take it into consideration in cases of an unclear inflammatory bone process in young patients.

[Imaging of chronic inflammatory bowel diseases in childhood and adolescence : Repetitorium]. / Bildgebung chronisch-entzündlicher Darmerkrankungen im Kindes- und Jugendalter : Repetitorium.

Chronic inflammatory bowel diseases can already occur in childhood and in contrast to affected adults, are more frequently manifested as unspecific symptoms. Therefore, at the time of diagnosis the gastrointestinal tract may already be severely affected. Both the diagnostic methods and the treatment concept, which is ideally carried out by pediatric gastroenterologists, differ from those used in adults. The primary diagnostics mainly include sonography and hydro-magnetic resonance imaging (MRI), whereby each modality offers certain advantages depending on the patient and the examiner but is also subject to limitations in terms of feasibility and evaluation. Imaging diagnostics contribute not only to finding the diagnosis but also to assessing the extent of the disease. They also serve to monitor the course of the disease in terms of treatment response or failure, to assess the activity and to detect and quantify possible complications, such as fistulas or abscesses.

[Fracture classification-part 1 : Modern low-dose radiation imaging in pediatric traumatology]. / Frakturklassifikation ­ Teil 1 : Moderne strahlensparende Diagnostik in der Kindertraumatologie.

BACKGROUND: Fractures in children are significantly more common than bone fractures in adults. Overall, they have a good prognosis regarding spontaneous correction and a restitutio ad integrum. The aim of this study is to provide an overview of established modern (low-dose radiation) imaging techniques in pediatric fractures. MATERIALS AND METHODS: Knowledge of typical fractures for different ages, of the individual bone nuclei of the growth plate, and epiphyseal injuries are important for the correct radiological diagnosis. This review also focuses on fractures of the elbow because misinterpretation may result in delays of consolidation with subsequent growth disturbances, joint dysfunctions, and malpositions. RESULTS AND CONCLUSIONS: In addition to conventional x­rays, fracture sonography is becoming increasingly important for the detection of fractures in children. In the upper extremity, a sensitivity of 96% and specificity of 97% can be achieved for some fracture entities, e.g., at the distal forearm. Computed tomography is used restrictively but plays an important role in a few special indications for polytraumatized children and preoperative assessment, e.g., in the case of transitional fractures.

Therapeutic hypothermia after cardiopulmonary resuscitation in a 4-month infant.

Therapeutic hypothermia is currently recommended for adult comatose survivors of cardiac arrest and perinatal hypoxic-ischemic encephalopathy. By contrast, current international guidelines on cardiopulmonary resuscitation in children neither refute nor support therapeutic hypothermia. Here we report on a 4-month old infant who survived resuscitation for severe cardiopulmonary insufficiency without neurological impairments. The infant most probably experienced unwitnessed aspiration with subsequent severe cardiopulmonary insufficiency. This was paralleled by incidental hypothermia, i.e. a core body temperature of 32°C at time of resuscitation. The infant was transported to the pediatric intensive care unit and additional to state-of the art resuscitation therapy (e.g. vasopressors, pressure controlled intermittent mandatory ventilation) therapeutic hypothermia (core body temperature 32.0-34.0°C) was admininistered for additional 48 h to confer optimal neuroprotection. Subsequently, he was rewarmed (0.25°C per hour) and sedation was stopped at a core body temperature of 36°C. Chest X-ray at time of admission to the hospital revealed typical signs of severe aspiration, whereas transthoraic echocardiography, electrocardiography and ultrasound examination of the brain were without pathological findings. Likewise, magnetic resonance imaging of the head performed on days 3 and 32 after resuscitation revealed no signs of hypoxic brain damage and the child was discharged to foster care without neurological deficits 52 days after admission.

Comparison of duplex sonography and high-resolution magnetic resonance imaging in the diagnosis of giant cell (temporal) arteritis.

OBJECTIVE: To compare the diagnostic performance of high-resolution magnetic resonance imaging (MRI) and color-coded duplex sonography (CCDS) in patients with giant cell (temporal) arteritis (GCA). METHODS: Results of high-resolution MRI and CCDS in 59 patients with suspected GCA were compared with the final clinical diagnosis (based on the American College of Rheumatology GCA criteria and a 6-month followup study). Sensitivity, specificity, and positive and negative predictive values (PPV, NPV) were calculated for each method. In 41 of the patients, imaging results were also compared with the findings of a temporal artery (TA) biopsy. RESULTS: Thirty-six of the 59 patients (61%) were ultimately diagnosed as having GCA. Sensitivity of high-resolution MRI and CCDS was 69% and 67%, respectively, specificity was 91% and 91%, PPV was 93% and 92%, and NPV was 66% and 64%, respectively. TA biopsy findings were positive in 24 of the 41 biopsied patients (59%). Sensitivity of high-resolution MRI and CCDS compared with TA biopsy was 83% and 79%, respectively, specificity was 71% and 59%, PPV was 80% and 73%, and NPV was 75% and 67%, respectively. The differences between high-resolution MRI and CCDS were not significant. CONCLUSION: The diagnostic power of high-resolution MRI and CCDS in detecting GCA was comparable. Either of these noninvasive techniques may have value in the evaluation of patients with suspected GCA, and decisions regarding which technique to use may depend on the clinical setting.