High reliability of scrotal ultrasonography in the management of childhood primary testicular neoplasms.

BACKGROUND: The role for testis-sparing surgery in the treatment of primary intratesticular lesions in childhood is growing. The reliability of scrotal ultrasonograpy (US) in the management of these lesions is still controversial. PATIENTS: Between 1991 and 2007, 383 children and adolescents presented with testicular abnormalities. Ultrasound results and records of patients with primary testicular neoplasms were analyzed. RESULTS: 12 of 383 patients (3.1%) had a histologically proven primary intratesticular neoplasm. Scrotal US was highly sensitive for the detection of these lesions. Patients' mean age at initial US was 6 years (9 prepubertal, 3 juvenile patients). The most frequent symptom was a painless unilateral scrotal mass (75%). Tumor markers or testosterone were elevated in 6/12 boys. Histology was intratesticular germ cell in 7, sexcord stromal tumor in 4 and capillary hemangioma in 1 patient. US correctly distinguished between benign and malignant lesions in all cases. When combined with clinical symptoms, US predicted 75% of histologies. After including hormone and tumor marker levels, a correct preoperative diagnosis was made for all boys with germ cell, and for 75% of boys with sexcord stromal tumor. CONCLUSION: Scrotal US is highly sensitive for the detection of childhood primary intratesticular tumors and, when combined with clinical data, highly reliable for differential diagnosis. It may help clinicians to decide when to opt for testis-sparing surgery.

[Subcutaneous annular granuloma: a differential diagnosis not to be forgotten in expansive lower leg (soft-tissue) lesions of young children]. / Subkutanes Granuloma annulare: eine nicht zu vergessende Differenzialdiagnose bei expansiven (Weichteil-) Läsionen an den unteren Extremitäten von jungen Kindern.

PURPOSE: Expansive lower leg lesions in children include numerous, even malignant, entities. Good differential diagnostic knowledge is extremely important in those conditions in order to prevent unnecessary biopsy. Therefore, our own observations of a not particularly rare pseudotumorous soft-tissue disease are presented and the value of ultrasonography is emphasized. MATERIALS AND METHODS: The imaging material (sonograms in all, MRI and radiograms in the first 4 and 3 patients, respectively) and the clinical charts of 7 young children (4 females, 3 males; aged 28 - 65 months) were analyzed retrospectively. RESULTS: All lesions were pretibial, firm, indolent, non-movable, and without inflammatory signs. They had developed spontaneously. Laboratory tests were normal. Ultrasound demonstrated all lesions located subcutaneously, homogeneously echopoor with indistinct borders and only little increased perfusion. On MRI they presented with low signal in T 1, high in T 2 and marked contrast enhancement. No intraosseous changes or calcifications were found. Histological proof in the first 2 patients disclosed subcutaneous annular granuloma. Based on an identical clinical and sonographic initial presentation, biopsy and additional imaging were dispensed in the later patients. Their clinical course with only sonographic controls was as expected. CONCLUSION: When dealing with expansive lower leg soft-tissue lesions in young children, the presented typical clinical and sonographic findings should give rise to consideration of the benign entity of subcutaneous annular granuloma and primary monitoring of those patients with only ultrasound.

Ultrasound in abdominal and soft-tissue childhood PTLD (post-transplant lymphoproliferative disease).

AIM: Post-transplant lymphoproliferative disease (PTLD) is a rare condition, which should be well known to all paediatric medical facilities dealing with bone marrow and solid organ transplantation. The spectrum and the primary detecting modality of the initial imaging findings in paediatric transplant recipients with abdominal and soft-tissue PTLD should be studied retrospectively. METHOD: 7 children/adolescents (female: 4, male: 3; age: 3 - 19 yrs.; study period: 7 yrs.) after heart (5), kidney (1) or liver (1) transplantation were evaluated regarding their initial clinical and imaging findings of PTLD. RESULTS: 6 patients had a latent Epstein-Barr virus (EBV) infection. PTLD presented with clinical symptoms in only 5 patients (ileus: 2, soft-tissue swelling: 2, intussusception: 1) and was detected on routine abdominal ultrasound (US) controls in the remaining patients. US was the primary imaging modality in all children and led to suspecting PTLD in 6 patients. In the seventh case, US had been misinterpreted first. Compared to US, additional magnetic resonance imaging (MRI) and/or computed tomography (CT) better demonstrated the extent of the disease in 3 children, but were even inferior in another 3. There was no completely false-negative US examination during the study period. CONCLUSION: US is reliable for detecting as well as excluding abdominal and soft-tissue PTLD in paediatric patients after solid-organ transplantation and might even be superior to MRI/CT. Therefore, all patients with an increased risk of developing PTLD should be closely monitored by ultrasound. MRI/CT may be reserved for supplementary imaging in cases incomplete or equivocal on US, but are primarily essential in all patients with a localisation of PTLD not accessible by US.

[Infradiaphragmatic extralobar pulmonary sequestration]. / Infradiaphragmale extralobäre pulmonale Sequestration.

PURPOSE: To demonstrate characteristic imaging findings in infradiaphragmatic extralobar pulmonary sequestration (IEPS) with special emphasis on ultrasound (US). MATERIALS AND METHODS: The imaging material (pre- and postnatal US in all cases, magnetic resonance imaging (MRI) in 2 cases) for 4 infants (3 girls, 1 boy) was reviewed. 2 patients underwent surgery (after birth and at 4 months of age, respectively) and the diagnosis of IEPS was confirmed. The other 2 patients were monitored conservatively using US for up to 15 months. RESULTS: All 4 left-side suprarenal masses exhibited the same characteristic sono-morphology, leading to the suspected diagnosis of IEPS. The masses were small (max. 10 ml), hyperechoic with cystic components and without calcifications, well demarcated and separate from the normal kidney and the suprarenal gland, and without any change in prenatal and directly postnatal size. Doppler US showed low-grade perfusion in all cases and an aberrant systemic artery originating from the abdominal aorta in 2 cases. MRI did not add any fundamental information. Despite the suspected imaging diagnosis of IEPS and negative urinalyses for neuroblastoma, 2 patients underwent surgery for histological confirmation. The lesions in the other 2 patients were monitored via US. A complete disappearance after 4 months in one patient and a continuous decrease in size over 15 months in the other patient were documented. CONCLUSION: Based on the characteristic findings of prenatal and postnatal US, IEPS can be diagnosed reliably. With the knowledge of its benign spontaneously regressing behavior, suspected suprarenal lesions should be treated conservatively via US monitoring.

Parvovirus B19 infection associated with unilateral cervical lymphadenopathy, apoptotic sinus histiocytosis, and prolonged fatigue.

This report describes the case of a 16 year old girl with a history of high fever, prolonged fatigue, and cervical lymphadenopathy of the right side. In addition, the patient showed neutropenia, thrombopenia, and pronounced reticulopenia. Cervical ultrasound showed unilateral hypoechoic lymph nodes up to 23 mm in diameter suspicious for malignant lymphoma. Histology of a cervical lymph node specimen revealed massive nodular histiocytic proliferation and prominent apoptosis without necrosis. Parvovirus B19 was detected by polymerase chain reaction and immunohistochemistry in the lymph node. In summary, this case is an unusual presentation of parvovirus B19 infection. The virus was identified as the potential causative agent of unilateral cervical lymphoma and apoptotic sinus histocytosis, thus broadening the clinicopathological spectrum of parvovirus B19 induced diseases.

[The VIP-secreting tumor as a differential diagnosis of protracted diarrhea in pediatrics]. / Der VIP-produzierende Tumor in der Pädiatrie als Differenzialdiagnose der protrahierten Diarrhö

BACKGROUND: Vasoactive intestinal peptide (VIP) can be produced by mature neurogenic tumors. Pathologically elevated VIP plasma levels cause secretory diarrhea with excessive loss of water and electrolytes. Despite the clinical severity diagnosis of a VIP-secreting tumor is often delayed and subsequently its extirpation as the mainstay of therapy. PATIENTS: We report on two patients with ganglioneuroblastoma and secretory diarrhea. We contrast the case of a 13-month-old boy with advanced symptoms of secretory diarrhea, high VIP plasma levels, and late diagnosis to the case of a 14-month-old boy with mild secretory diarrhea and normal VIP plasma levels but positive proof of VIP in tumor tissue. Reviewing the literature we found 57 cases of pediatric VIP-secreting tumors. RESULTS: The clinical situation is characterized by the typical symptoms of secretory diarrhea with hypokalemia and metabolic acidosis. Histopathology predominantly reveals ganglioneuroblastoma or ganglioneuroma. The symptoms mostly stop after complete resection of the tumor whereas lack of resection is associated with elevated mortality rates. CONCLUSIONS: In case of prolonged therapy-resistant secretory diarrhea the existence of a VIP-secreting tumor should be considered. Diagnostic work-up should include the assessment of VIP plasma levels, catecholamines in urine, and appropriate imaging techniques in order to rule out or confirm the possibility of a VIP producing tumor.

[Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families]. / Currarino-Syndrom: Variabilität der bildgebenden Befunde bei 22 molekulargenetisch identifizierten (HLXB9-Mutation) Patienten aus fünf Familien.

PURPOSE: The imaging documents, obtained in connection with a primarily molecular genetic study on Currarino syndrome, should be evaluated with special respect to the constancy resp. the variability of findings in patients with proven HLBX9 mutations. METHODS: In five female non-related index patients with clinico-radiologically diagnosed Currarino syndrome and further 53 members of their families, changes of the homeobox gene HLXB9 had been analysed. Variable mutations of this gene were found in a total of 23 individuals including the five index patients. In 22 of them the preexisting radiological documents could be collected as well as further imaging (plain sacrococcygeal radiography and/or lumbosacral MRI at least) initiated. This was followed by a detailed evaluation of pathological findings in the os sacrum/coccyx as well as in the presacral, the intraspinal, the anorectal, and the urogenital region, finally. RESULTS: Imaging investigations revealed concomitant phenotypic abnormalities in all and even nine clinically asymptomatic individuals with proven HLXB9 mutations. A sacrococcygeal defect of varying intensity was depicted in every case. Complete Currarino triad (i. e. sacrococcygeal defect, presacral mass = anterior meningocele and/or tumor, anorectal malformation) was only found in the five index patients and three further relatives. In all other cases, one or more of the following anomalies were detected with variable combination and with decreasing frequency: anterior meningocele (12), presacral tumor (11), tethered cord (10), intraspinal lipoma (8), anorectal stenosis/atresia (8), syringocele (5), rectal fistula (3), urogenital (2). CONCLUSION: Currarino syndrome should be considered as a differential diagnosis in all patients with chronic constipation since early infancy and its imaging index finding, i. e. a sacrococcygeal defect, should be looked for with plain radiography, first. In positive cases or other phenotypic suspicious constellations molecular genetic analysis for HLBX9 mutations should be the next step. If positive again, this should be followed by complete adequate imaging in the patient as well as by plain sacrococcygeal radiography in, at least, symptomatic family members.

[A rare location for extratruncular vascular malformation]. / Eine seltene Lokalisation einer extratrunkulären vaskulären Malformation.

We report on an undefined tumor of the right ulnar side of the elbow in a 15-year-old boy. The clinical examination showed painful swelling in the area of the ulnar nerve at the right elbow as well as sensory and motor deficits of the right hand corresponding to distribution of the ulnar nerve. Ultrasound examination and magnetic resonance imaging showed a tumor along the nerve. Subsequent surgical therapy included tumor decompression by division of the fascia. The histological examination demonstrated a capillary hemangioma that infiltrated the ulnar nerve.After surgery, oral glucocorticoid therapy with cortisone (5 mg/kg per day) was administered over a period of 4 weeks, alternating between 1 week of therapy and 1 week without medication. The result of this combined therapy was a rapid diminution of the tumor and an almost complete restitution of the neural function.

[Sonographic detection of a "VIPoma" in a small child with intractable gastroenteritis]. / Sonographische Detektion eines "VIPoms" bei einem Kleinkind mit therapieresistenter Gastroenteritis.

As case report we describe a rare cause of intractable "gastroenteritis" detected by ultrasonography. The 14 months-old boy was admitted to hospital because of intensive dehydration due to massive vomiting and diarrhoea. A salmonella enteritis with intractable hyponatraemia and hypokalaemia was thought to be the cause. After a dramatic relapse during oral treatment measures, further extensive laboratory tests finally disclosed an elevated serum level of vasoactive intestinal polypeptide ("VIP"). The VIP secreting tumor ("VIPoma") was detected ultrasonographically in a retroperitoneal localization mediocaudally of the right kidney. Diffuse distinct calcifications and an increased perfusion could be demonstrated. Intraspinal tumour spread was excluded by magnetic resonance imaging. After complete surgical removal of the tumour the clinical symptomatology normalized promptly and permanently. A VIP-excreting ganglioneuroblastoma with low grade growth fraction ("VIPoma") was diagnosed histologically. Common gastroenteritis in childhood represents no indication for ultrasound. In cases of unclear and therapy-resistant symptomatology, however, diagnostic work-up should include ultrasonography to search for retroperitoneal or pancreatic VIP-excreting tumours.

Ultrasonographic late results after surgically treated cryptorchidism.

BACKGROUND: Because uncorrected cryptorchidism is accompanied by the high risk of later disturbed testicular function and cancer, early surgery in the second year of life is recommended. OBJECTIVE: To evaluate testicular morphology, the sonomorphologic testicular long-term outcome and additional complications, as well as possible differences depending on varying ages at surgery. MATERIALS AND METHODS: Seventy-five previously maldescended testes in 68 boys were studied with US, 2-11 years after intrascrotal orchidopexy. Nineteen had been operated on in the first or second year of life, while the other 49 boys underwent surgery at a later age (up to 7 years). Each examination utilised conventional B-mode and colour Doppler (7-MHz linear ART probe, Acuson XP 128) to examine the scrotal and inguinal regions on both sides; testicular volume and perfusion were assessed. Ultrasound changes in testicular volume, architecture and Doppler flow rates were regarded as the most valid indirect indices of testicular damage. Histopathological correlation was not obtained, for ethical reasons, in any of the probands. RESULTS: Thirty-five of the surgically fixed testes were normal with regard to position, volume, structure and perfusion. The other 40 (53%) showed abnormalities of one or more of these parameters without any correlation with the patient's age at surgery or the time interval between surgery and US. Additional relevant findings, which were also found on the non-operated side, were: microlithiasis (n = 6), inguinally retained testis (n = 6), hydrocoele (n = 5), hydatid (n = 5) and varicocoele (n = 1). CONCLUSIONS: Ultrasound, including colour Doppler, enables an exact morphological analysis of the late results after surgically corrected cryptorchidism. The spectrum of findings does not show any correlation with the time of surgery. Thus, the value of even early surgery has to be questioned. Pre-existent primary damage (dysplasia) seems more important for long-term outcome of the testis. Additionally, US was of high value in demonstrating additional unexpected anomalies, the majority of which needed sonographic follow-up or even surgery.

[Sonographic course of systemic echinococcosis in a 10 year old girl (with cardiac, hepatic, renal and muscular involvement)]. / Sonographischer Verlauf einer systemischen zystischen Echinokokkose bei einem 10jährigen Mädchen (mit kardialem, hepatischem, renalem und muskulärem Befall).

PURPOSE: To present the predominantly ultrasonographic (initial and follow-up) imaging in a disease that is rare among the Central European paediatric population--and to evaluate the role of ultrasound for initial staging and follow-up under antihelmintic therapy. METHOD: The imaging documents as well as the clinical record of a 10-year old Armenian girl with systemic hydatid disease (cystic echinococcosis) were analysed retrospectively. RESULTS: By means of ultrasound, the complete initial systemic spread of the disease with at least 11 cysts within the liver, 1 cyst in the left kidney, 1 peri-/2 intracardiac cysts, and 1 cyst in the dorsal musculature was detected. Repeated sonographic examinations allowed the estimation of successful medical treatment by the following criteria: size reduction of all cysts with changing internal structures from an initially echo-free to an increasingly homogeneous echodense character; no developing new cysts. In addition, CT and MRI enabled a more complete demonstration of especially the intra- and pericardiac lesions (preoperatively) and the exclusion of further intracranial cysts. CONCLUSION: In paediatric hydatid disease, ultrasonography yields important information not only with regard to the initial staging, but also to the antihelmintic therapeutic effects and thus helps to determine when to discontinue medical treatment.

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.

The spectrum of imaging in Currarino triad.

The aim of this study was to evaluate the spectrum of findings and the efficacy of different imaging modalities in order to formulate recommendations for diagnostic imaging of Currarino triad (ASP syndrome), including screening of relatives. The imaging films of five female patients (age range 6 weeks to 12 months) were analysed retrospectively. The studied material consisted of US and MRI of the lower spine (5 patients each), lumbosacral plain radiography (4 patients), contrast enema (4 patients), urinary US (2 patients), genitography (1 patient) and myelo-CT (1 patient). Depiction of pathological findings with different imaging modalities was reviewed and validated with special respect to their demonstrability by US. Ultrasonography detected the sacral bony defect as well as the presacral pathology (meningocele and/or tumour) and thereby gave the basic diagnosis in all of the cases. It also depicted tethered cord and urinary tract abnormalities correctly. Magnetic resonance imaging gave a more distinct visualization of pre- and intraspinal pathology with additional demonstration of intraspinal lipoma in two cases. Regarding anorectal and genital malformations, radiographic contrast agent studies had been used in all patients. Two blind-ending retrorectal fistulas, depicted by enema, were missed by MRI. Patients with congenital or early infancy obstipation, anorectal malformations and complex urinary tract malformations should have spinal and pelvic sonography first. A plain film of the sacrum is recommended in equivocal cases. The need for MRI and contrast agent studies depends on the individual pathology, whereas presently MRI has made further radiographic imaging increasingly dispensable. A screening program with lumbosacral US or plain radiography for families with Currarino triad should be obligatory.

[Vaginal atresia as a rare cause of a cyst in the fetal lower abdomen. Pre- and postnatal diagnosis/therapy]. / Vaginalatresie als seltene Ursache eines fetalen zystischen Unterbauchtumors. Prä- und postnatale Diagnostik/Therapie.

This is a report on the course of a cystic mass in the lower abdomen of a female fetus, which could bei seen by prenatal ultrasound. We are describing differential diagnosis, pre- and postnatal therapy and the origin, as well as the risks of vaginal atresia.

[Experiences with a new film-screen system in pediatric thoracic radiography]. / Erfahrungen mit einem neuen Film-Folien-System in der pädiatrischen Thoraxdiagnostik.

PURPOSE: To compare the x-ray images made by the Kodak InSight Pediatric Imaging System (InSight P) with conventional film-screen systems in pediatric chest radiography. MATERIAL AND METHODS: The comparison involved chest radiographs made using Quanta-Fast-Detail/Cronex 4 (DuPont), Trimax 16/XDA (3 M) and DuPont UVR/UVL systems. The image quality of critical structures and the physical parameters of quantum interference, contrast and resolution were assessed. The energy path of the system was assessed by preparing density curves. Test conditions were in accordance with the latest guidelines of the Bundesärztekammer (German Physician's Association). RESULTS: The mediastinal area, retrocardiac and paravertebral spaces and the peripheral vessels of the lung were all displayed more distinctly using InSight P. The reason for this seems to be a lower degree of quantum interference associated with this system. With tube voltages between 60 and 80 kV, InSight P displayed a relatively low degree of sensitivity. CONCLUSION: InSight P can be used to produce predominantly high quality chest radiographs of infants between one and five years of age. However, this system has limited sensitivity in the tube voltage range recommended by the German Physicians' Association.

[Skull injury in childhood: comparison of ultrasonography with conventional X-rays and computerized tomography]. / Schädeltrauma im Kindesalter: Vergleich der Sonographie mit konventionellen Röntgenaufnahmen und der Computertomographie.

PURPOSE: The purpose of our study was to compare the value of ultrasound, conventional x-ray diagnosis and CT in detecting skull fractures and intracranial haemorrhage in children suffering from a head injury. MATERIAL AND METHODS: We examined 210 children who had a head injury. In all cases the calvarium was investigated by ultrasound using a 7.0 MHz linear transducer. In children with an open fontanel (n = 190) the cerebrum was screened additionally by ultrasound following a standard protocol. The sonographic findings were correlated to the x-ray examination (n = 21) and CT (n = 13). RESULTS: Ultrasound enabled diagnosis of linear calvarial fractures (n = 29), depressed fractures (n = 6) and intracranial haemorrhage (n = 8). X-Ray and CT examination confirmed the diagnosis of linear calvarial fractures in 16 cases, of depressed fractures in 6 cases. CT confirmed the sonographic diagnosis of intracranial haemorrhage in 8 cases. CONCLUSION: Ultrasound as a primary method can replace the conventional x-ray in detecting calvarial fracture and posttraumatic sequelae. Additional CT examination depends on the sonographic and neurological status.

The value of sonography in the detection of osteomyelitis.

PURPOSE: A retrospective study was carried out in order to determine the role of sonography in establishing the diagnosis in extremity osteomyelitis. MATERIALS AND METHODS: The imaging documents of 24 infants and children aged from 2 weeks to 13 years with osteomyelitis (acute 21, chronic 3) were reviewed. Sonograms and conventional radiographs were available in all patients. Additional skeletal scintigraphy had been performed in 13 patients and MRI in only 3. Special emphasis was put on the different ultrasound findings and their onset in the course of disease. RESULTS: Intra-articular fluid collections (in 15 cases) and/or subperiosteal abscess formation (in 12) were the most frequent early sonographic findings, and preceded any radiographic changes by several days in 11 of these cases. Together with positive clinical signs of inflammation, they were usually sufficient to establish the correct diagnosis. In selected cases, fluid or abscess puncture for immediate microscopic and later bacteriological studies was carried out under sonographic control. In addition, sonography was also able to detect superficial cortical erosion and even an intramedullary focus in a very young patient. CONCLUSION: Ultrasonography is a very helpful tool for establishing the correct diagnosis in osteomyelitis and reducing the frequency of additional imaging studies.

[Ultrasound of extremity lesions caused by birth trauma]. / Sonographie geburtstraumatischer Extremitätenläsionen.

With regard to injuries of the extremities caused by birth trauma, ultrasound allows simultaneous direct evaluation of the surface of osseous elements and of cartilaginous and soft-tissue structures as well. Thus, not only fractures, but also concomitant articular fluid collections, respectively haematomas and/or dislocation of an epiphysis are demonstrated in their initial extent and in their course of healing. Additionally, closed repositions, for instance of a displaced epiphysis, can be exactly monitored by ultrasound. A reduced number of roentgenograms as well as renunciation of other imaging modalities are the consequence. Own experiences in 4 patients with birth trauma to the humerus confirm the high validity of ultrasound in this area as well.