[Congenital lobar emphysema - a radiological diagnosis at first glance?]. / Das kongenitale lobäre Emphysem - eine radiologische Blickdiagnose?

Congenital lobar emphysema (CLE) is a malformation of the lung of unknown etiology. The characteristic overdistension of the affected lobe leads to compression and displacement of adjacent normal lung tissue and mediastinum. In the majority of cases, symptoms appear during the neonatal period or in early childhood. Clinically, children present with signs of respiratory distress, frequently occurring with a superimposed lower respiratory tract infection that aggravates air trapping and renders the patient symptomatic. Rarely, CLE is diagnosed in adult patients who did not experience any symptoms during childhood. Knowledge of the disease is of importance because in the majority of cases a plain chest radiograph together with clinical signs is sufficient to diagnose the disease correctly. The article draws attention to this condition by presenting two children and one adult with congenital lobar emphysema. Possible clinical symptoms and diagnostic strategies are reviewed.

[Primary intracranial germinoma. Problems in determining the diagnosis exemplified by 4 cases]. / Das primäre intrakranielle Germinom. Probleme der Diagnosefindung am Beispiel von vier Fällen.

Primary intracranial germinoma is a possible cause of "idiopathic" diabetes insipidus in childhood and adolescence. The histopathologic appearance can be similar to inflammation, and may delay the final diagnosis. Further diagnostic difficulties are demonstrated by the use of anamnestic and clinical data as well as diagnostic imaging findings in four children with histologically proven primary intracranial germinoma.

Myositis ossificans traumatica in young children: report of three cases and review of the literature.

Myositis ossificans traumatica (MOT) is a rare musculoskeletal disorder in young children. Clinical and imaging presentation in the early stage of disease makes it difficult to differentiate between infection and musculoskeletal neoplasms, particularly in the absence of a history of trauma. Three cases of MOT in children under the age of 10 years, two with inferential trauma, are presented and the findings on different imaging modalities are discussed with reference to the existing literature. While findings based on a single imaging technique, including MRI, may be rather non-specific and even misleading, the combination of different modalities can assist in the consideration of MOT as a possible diagnosis. For example, the demonstration of soft-tissue haematoma on US would suggest the traumatic origin. A rational imaging approach is proposed.

Posterior pituitary ectopia: another hint toward a genetic etiology.

We report the MR and clinical findings of two patients with growth hormone deficiency and posterior pituitary ectopia (PPE). Possible causes of PPE are discussed.

Nodular regenerative hyperplasia of the liver: case report of a 13-year-old girl and review of the literature.

BACKGROUND: Nodular regenerative hyperplasia (NRH) of the liver is a multi-acinar regenerative nodular lesion in a non-cirrhotic liver. It is a rare entity, especially in children, and remains of unknown aetiology. OBJECTIVE: NRH is often seen in association with other diseases or drug intake. In half of patients it is complicated by portal hypertension. Radiologically, its nodular appearance may look like neoplasia. RESULTS: We report a case of NRH with enormous hepatomegaly and multiple huge nodules. CONCLUSION: We wish to emphasise the importance of open wedge biopsy to establish diagnosis, since the prognosis of NRH in the absence of portal hypertension is good. Complications such as rupture of a nodule are rare.

MR cholangiography in children with autosomal recessive polycystic kidney disease.

BACKGROUND: Magnetic resonance cholangiography (MRC) is a relatively new, non-invasive imaging technique of the biliary tree that has shown good correlation with endoscopic retrograde cholangiopancreatography. The liver manifestation of autosomal recessive polycystic kidney disease (ARPKD) is congenital hepatic fibrosis (CHF). CHF may be accompanied by Caroli's disease, which is characterised by a non-obstructive dilation of the intrahepatic bile ducts. OBJECTIVE: A prospective study was conducted to determine the presence and extent of Caroli's disease in children with ARPKD. MATERIALS AND METHODS: Seven children with ARPKD aged from 3.0 to 10. 1 years were examined. CHF was confirmed in all biopsied cases (5 of 7). All children had been followed by repeated abdominal US examinations for many years. The MR examination included a morphological imaging study using a T2-weighted turbo spin-echo sequence and a heavily T2-weighted inversion-recovery turbo spin-echo sequence with three-dimensional maximum intensity projection (MIP) reconstructions for MRC. RESULTS: The diagnosis of Caroli's disease could be made in one case by US; in two other children Caroli's disease was suspected, but the differentiation from hepatic cysts was not possible. By MRC, Caroli's disease could be diagnosed in three of seven children. Furthermore, MRC with MIP reconstructions demonstrated the extent of the disease by showing the entire biliary tree from different angles. CONCLUSIONS: MRC is a valuable method to establish the diagnosis and demonstrate the extent of Caroli's disease.

Right sternoclavicular dislocation after traumatic delivery: a case report.

Sternoclavicular (SC) dislocation is an injury that is very rare in the newborn. Thus far there have been no reports describing this in neonates after a traumatic birth injury. This condition can be difficult to differentiate from epiphyseal separation, which occurs more often in older children. For successful treatment, early diagnosis is essential. Timely surgical reposition and fixation with following immobilization is recommended in instances of complete (SC) dislocation. We report a trauma-induced case of SC dislocation in a neonate successfully managed by polydioxanon cord fixation.

Cerebral complications in Schimke immuno-osseous dysplasia.

UNLABELLED: Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with prominent neurological symptoms most likely caused by transient ischaemic attacks. CONCLUSION: Neurological symptoms consisted of repeated brief spells of hemiparaesthesia, motoric aphasia and diplopia. MRI studies of the CNS revealed progressive white matter lesions. Morphological changes as well as neurological deficits are compatible with cerebral ischaemia.

Spiral CT angiography in an infant with severe hypoplasia of a long segment of the descending aorta.

CT angiography, or the spiral CT technique, is a promising minimally invasive method of visualising the arterial vascular system and can be applied in children in whom ultrasound, MRI and/or angiography or cardiac catheterisation cannot be performed, or where an exact diagnosis cannot be made. CT angiography should be considered in special cases as a diagnostic alternative to MRI, ultrasound and angiography. As an example of the possibilities of CT angiography, a case is described in which hypoplasia of the descending aorta was diagnosed and a postoperatively encountered perigraft reaction was demonstrated. Perforation of the blood vessel could be excluded by CT angiography.

Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease.

Using localized proton magnetic resonance spectroscopy (1H-MRS), accumulation of branched-chain amino acids (BCAA) and their corresponding 2-oxo acids (BCOA) could be non-invasively demonstrated in the brain of a 9-year-old girl suffering from classical maple syrup urine disease. During acute metabolic decompensation, the compounds caused a signal at a chemical shift of 0.9 ppm which was assigned by in vitro experiments. The brain tissue concentration of the sum of BCAA and BCOA could be estimated as 0.9 mmol/l. Localized 1H-MRS of the brain appears to be suitable for examining patients suffering from maple syrup urine disease in different metabolic states.

Infradiaphragmatic bronchogenic cyst with high CT numbers in a boy with primitive neuroectodermal tumor.

Abdominal bronchogenic cysts are very rare with less than 20 published cases. We report the case of a retroperitoneal bronchogenic cyst in a 12-year-old boy, who initially presented with a primitive neuroectodermal tumor of the pelvis. Computed tomography (CT) showed a small, hyperdense nonenhancing mass adjacent to the right crus of the diaphragm. Follow-up CT after chemotherapy showed a decrease in CT attenuation of this mass, but a slight increase in size. At surgery the mass was loosely attached to the diaphragm and final pathology confirmed the diagnosis of a bronchogenic cyst.

[Cardiopulmonary capacity in patients with mucoviscidosis. Comparison of ergospirometry findings with clinical and radiological scores]. / Kardiopulmonale Leistungsfähigkeit von Patienten mit Mukoviszidose. Vergleich ergospirometrischer Befunde mit klinischen und radiologischen Scores.

AIM OF STUDY: Shwachman-Kulczycki- and Chrispin-Norman-Scores are widely used scoring systems for CF-patients. Maximum bicycle exercise testing was performed in 15 patients (medium age 13.4 years) to investigate whether clinical and radiographic scores or pulmonary function testing could predict cardiorespiratory fitness. METHODS: A progressive exercise test was used to determine maximum working capacity (Wmax). Prior to exercise testing, lung function and blood gases were investigated. Chest radiographs were scored by an independent radiologist (G.B.) applying the Chrispin-Norman-Score. The Shwachman-Kulczycki-Score was determined by two observers (F.F., H.S.). RESULTS: Chrispin-Norman-Score, Schwachman-Kulczycki-Score, results of lung function testing and blood gas values were significantly correlated to each other. However no significant correlation was found to the degree of exercise limitation. CONCLUSION: Clinical, radiographic scores and lung function testing cannot predict exercise tolerance. Exercise testing is mandatory to evaluate cardio-respiratory fitness in CF-patients.

[Response criteria for enzyme substitution in Gaucher disease]. / Response-Kriterien für die Enzymsubstitution bei Morbus Gaucher.

Recently the intravenous enzyme replacement therapy with modified beta-glucocerebrosidase has become available for patients with M. Gaucher. We report here the considerable improvement of activity and vigor in a 5 year old girl with type 1 M. Gaucher administering 60 IU/kg every two weeks for 6 months. The platelet count increased from 82-96/nl to more than 150/nl and hemoglobin from 10.8 to more than 12 g/dl. Serum acid phosphatase decreased from 14.6 U/l to 5.9. U/l and angiotensin-converting enzyme from 327 to 102 U/l. The estimation of splenic volume by MRT showed a decrease by 40%, while liver size was not reduced within 6 months of therapy. MRT proved to be useful to demonstrate the bone marrow infiltration by Gaucher cells. The enzyme replacement therapy resulted in an objective response. No side effects have been observed so far. The extreme high treatment costs enforce a considerable dose reduction for maintenance therapy.

Dysplastic gangliocytoma of cerebellum in a newborn. Diagnosis by ultrasonography and MRI.

A cerebellar lesion was detected by ultrasonography (US) in a symptomatic newborn. Magnetic Resonance Imaging (MRI) demonstrated this lesion as a gyriform structure. Therefore a rare dysplastic gangliocytoma was suspected, which was compatible with histopathology. Immunohistochemical studies (monoclonal antibody Ki-67) showed signs of progression.

The fibrous metaphyseal defect in early stage. Differential diagnosis to metaphysitis.

In a 22-month-old boy a fibrous metaphyseal defect (FMD) was diagnosed by radiological follow-up examinations. The initial radiological finding could not be differentiated from metaphysitis because of its early manifestation and stage. Eleven months later, magnetic resonance imaging (MRI) with Gadolinium (Gd)-DTPA demonstrated a small central area of increased signal intensity. Based on known angiographic findings with fibrous metaphyseal defects, one may hypothesize that this is best explained by a hypervascularized area.

[Ureaplasma urealyticum--a new problem pathogen in neonatology]. / Ureaplasma urealyticum--ein neuer Problemkeim in der Neonatologie.

Some previous studies showed that Ureaplasma urealyticum is the most common germ that appears in the birthway of pregnant women and which is also frequently found in skin swabs and secretions of newborn and premature babies. The colonization of pregnant women by Ureaplasma urealyticum makes a premature birth more likely. Another factor of risk for a premature infant is a premature rupture of membranes for more than 24 hours which also makes an infection possible. There exists an association between pulmonary infection by Ureaplasma urealyticum and the development of a bronchopulmonary dysplasia especially for premature babies. According to our observations acute exacerbations of severe pneumonia can appear even after month. An attempt of therapy of pulmonary infection should be undertaken with erythromycin, if sensitive serotypes are present. In the case of erythromycin resistance chloramphenicol can be used but only under frequent controls of blood levels. We were able to observe rapid improvements with this effective therapy.

[Nuclear magnetic resonance tomographic diagnosis of brain tumors in children and adolescents. A comparison with computed tomography]. / Kernspintomographische Hirntumordiagnostik im Kindes- und Jugendalter. Vergleich mit der Computertomographie.

Thirty-one pediatric patients with brain tumors--25 primarily diagnosed, 6 recurrences--underwent MR and CT examinations before and after application of contrast media. Tumor detection, delineation of the tumor extent and definition of the tumor type were compared. Gd-DTPA-enhanced MR was superior in delineating the extent of primarily diagnosed tumors, which showed enhancement (n = 22). The tumor detection (1/6) and the identification of the tumor margins (5/6) were improved by Gd-DTPA in the 6 recurrences. Tumors without enhancement (n = 3) were judged by T2-weighted images better than by CT. The results suggest that Gd-DTPA is indicated for the evaluation of brain tumors in pediatric patients as well, especially since it offers advantages distinguishing between tumor types. Only the detection of tumor calcifications, which is rarely specific, is not possible by MR.