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Biomedical subjects

I Gassner

Publications and source records attributed to I Gassner.

At least 19 recordsLinked to original sources
PubMed2006

Bilateral renal vein thrombosis in a twin newborn without known risk factors.

Neonatal renal vein thrombosis (RVT) is associated with neonatal stress, catheters and genetic prothrombotic risk factors. In an unusual case of bilateral RVT a twin newborn showed initial good adaptation at birth (weight 2,720 g). The placenta was monochorionic, diamnionic. The infant (gestational week 37) exhibited a severe macrohematuria within 24 hours after birth. Sonography of the kidneys showed a dense cortical parenchyma, loss of cortico-medullary differentiation and negative diastolic flow in both renal arteries and veins, while no thrombus in the main renal veins could be detected. No prothrombotic blood parameters and positive infection serology were detected. Because of acute renal failure peritoneal dialysis was necessary for 6 weeks. The patient was treated by heparinization for 5 days. Interestingly, it was kidney biopsy which confirmed the diagnosis of RVT in addition to the clinical presentation, whereas sonography was unspecific. Histology exhibited the picture of an ischemic contracted kidney with numerous siderophages. At present (age 19 months), the patient suffers from chronic renal failure (calculated glomerular filtration rate according to Schwartz 12 ml/min/1.73 m2). In conclusion, our case teaches that, despite the lack of a clinically obvious shock event, absence of known risk factors and indirect ultrasound findings, renal vein thrombosis should be considered in a macrohematuric newborn with renal failure. For clinical suspicion of RVT correct therapy was initiated, however, the diagnosis remained unclear until a renal biopsy was performed.

Acute Kidney Injury↗
PubMed2005

[Fetal genitourinary anomalies Perinatal and postnatal management with imaging techniques].

Improvements in ultrasound technology and the appropriate timing of antenatal ultrasound has led to refined prenatal diagnosis and enhanced accuracy of diagnosis of fetal renal anomalies and makes it possible to treat obstructive and/or refluxing uropathies before the onset of clinical symptoms. The third trimester renal sonography is the most important to detect hydronephrosis amenable to treatment.Classically, the prenatal diagnosis of hydronephrosis, unilateral renal agenesis, or MDKD initiates postnatal investigations, including sonography, voiding cystourethrography (VCUG), and isotopic renography. The exact degree of renal pelvic dilatation that requires full postnatal investigation is still not entirely resolved. Most authors accept the upper limit of 7 mm for the AP diameter of the renal pelvis. The US examination should be performed after the physiological dehydration period, namely 3-5 days after birth, in an urgent case on the 1st day. A meticulous ultrasound examination performed by a physician who is familiar with the renal abnormalities shows the whole extent of underlying pathology. The role of MR urography in the work-up of renal anomalies, particularly of hydronephrosis, is currently being investigated. Due to the close developmental relationship of the urinary and genital tracts, malformations frequently occur in both of these systems. Therefore in all patients, especially in girls with renal anomalies (unilateral renal agenesis, multicystic dysplastic kidney disease), the internal genitalia need to be evaluated.

Adult↗
PubMed2004

Ultrasound of female genital anomalies.

Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental anomalies of the female urinary and genital tracts and points out common associated malformations to allow an early and complete sonographic assessment of affected infant.

Abnormalities, Multiple↗
PubMed2002

[Diagnostic imaging in acute neurological status in childhood].

The diagnostic imaging of children with acute, non-traumatic, neurologic symptoms enables a fast and non-invasive localization and diagnosis. A spectrum of typical disorders will be described dependent on the location of neurologic symptoms (central, spinal, or peripheral nervous system). Different non-invasive imaging modalities e.g. US with colour-coded doppler, CT, MRI are utilized dependent on age of the patient and neurologic symptoms. The purpose of this article is to describe the spectrum of diagnostic imaging for each of these common disorders.

Acute Disease↗
PubMed2002

[Sonographic diagnosis of congenital dacryocystocele].

AIM: Congenital obstruction of the nasolacrimal drainage system occurs quite commonly. The reason is usually an impaired canalization at the distal end of the nasolacrimal duct with a residual membrane between the duct and the nasal cavity. Dacryocystocele is believed to result from a concomitant upper and lower system obstruction, causing fluid accumulation and distension of the lacrimal sac. The patient presents at birth with a tense, blue-grey swelling located just below the medial canthal tendon. The differential diagnosis for dacryocystocele includes haemangioma, encephalocele, glioma, dermoid cysts and malignant processes. MATERIAL AND METHODS: We demonstrate five typical cases to describe the sonographic features of dacryocystocele. RESULTS: Ultrasound is a simple, straight forward and gentle method to reliably distinguish dacryocystoceles from other pathologies. A sedation of the patient is not necessary. The sonographic appearance of a cystic mass medial and inferior of the orbit communicating with the dilated nasolacrimal duct as well as the typical content of fluid and debris was diagnostic of a nasolacrimal mucocele or dacryocystocele. Other more invasive imaging techniques as CT-scans and MRI are of benefit only if there is any doubt about the diagnosis.

Dacryocystitis↗
PubMed2001

Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature.

Many pathologic fractures, lumps on the head, elevated serum alkaline phosphatase (ALP) levels, and dental caries are the main characteristics of the rare autosomal dominantly inherited calvarial "doughnut lesions" (MIM 126550). We report the sporadic case of a 16-year-old patient who has had 10 pathologic fractures between age 6 weeks and 15 years. An elevated serum ALP level was found at age 11 and skull lumps at age 15; radiography showed frontal and parietal round radiolucencies surrounded by sclerotic bone comparable to doughnuts. Magnetic resonance imaging (MRI) showed skull lesions at an early stage. Because the findings are reminiscent of osteogenesis imperfecta (OI), collagen types I, III, and V were analyzed in fibroblasts and shown to be normal in terms of quantities, proportions, electrophoretic mobility, and thermostability. Thus, this rare syndrome can be distinguished from OI by collagen analysis and MRI of the skull at an early stage, even before palpable skull lesions appear.

Adolescent↗
PubMed2001

Diagnosing neonatal female genital anomalies using saline-enhanced sonography.

OBJECTIVE: The purpose of this article is to show the usefulness of sonography in diagnosing genital anomalies early in female neonates who have unilateral renal malformations. Our patients were three female neonates with renal anomalies that had been detected in utero. We performed sonography of the inner genitalia of each girl after filling the vagina with saline solution. In two patients with multicystic dysplastic kidney disorder, the examination revealed uterus didelphys with obstruction of one of the vaginas. Sonographic examination of the third patient showed Gartner's duct cyst with renal agenesis. CONCLUSION: The neonatal period provides a unique opportunity to use sonography to detect uterine anomalies because maternal and placental hormone stimulation increases the size of the uterus. Simultaneous intravaginal saline instillation during imaging further improves the radiologist's ability to diagnose genital malformations precisely. This procedure is a simple, sensitive, and inexpensive examination method that is useful in imaging female neonates with renal dysplasia or agenesis detected in utero or in the neonatal period. Its particular value is to further characterize a cystic mass posterior to the bladder that is seen at transabdominal sonography.

Abnormalities, Multiple↗
PubMed2000

[Sonography of the central nervous system in prematures and newborns].

UNLABELLED: Examination of the central nervous system in premature and full-term infants requires a sensible selection of the available diagnostic procedures such as ultrasound, MRI and CT to allow sufficient and accurate diagnosis and management. ULTRASOUND: Ultrasound, including the various Doppler techniques, is a very reliable, safe, noninvasive diagnostic tool that allows evaluation of even severely ill patients in intensive care units. It is especially well suited for the study of intracranial hemorrhage, hypoxic-ischemic encephalopathy, congenital malformations of the brain and lesions produced by intrauterine and acquired infections. Sonography is also very reliable in examination of spinal dysraphism and spinal cord injuries during birth. The necessity of surgical intervention (i.e. shunt implantation) as well as subsequent postoperative follow-up can be provided. MRI: In contrast to ultrasound, MRI is most useful to demonstrate the age-dependent myelinization pattern and clearly discriminates between the white and gray matter of the central nervous system. We therefore use MRI for the detection of complex malformations of the central nervous system in particular disorders of cell migration and for a final estimation of a perinatal brain injury. CONCLUSION: A precise ultrasound examination performed by an experienced physician who is familiar with the expected pathology and has access to a well-adjusted ultrasound machine should help to minimize the use of confirming CT and MRI investigations and to optimize their optional use in more complex cases.

Brain Diseases↗
PubMed1999

Glutaric aciduria type I: ultrasonographic demonstration of early signs.

BACKGROUND: Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed until the onset of irreversible neurological deficits. MATERIAL AND METHODS: We reviewed the clinical and imaging (US, CT and MRI) findings in six patients with proven GA-I and with emphasis on the early US findings. Coronal and sagittal US images of the brain were obtained through the anterior fontanelle in all patients. CT was obtained in three patients and MRI was obtained in two. RESULTS: Macrocephaly was found in all patients, being present in three children at birth or developing rapidly within the first weeks of life. US showed, in all patients, bilateral symmetrical cyst-like dilatation of the sylvian fissures. Progressive fronto-temporal atrophy developed within the first months. CT and MRI demonstrated fronto-temporal atrophy with lack of opercularisation in all cases and basal ganglia or periventricular hypodensities in three patients. CONCLUSIONS: In patients with macrocephaly at birth or rapidly developing within the first weeks of life, US should be performed as the primary imaging modality. Cyst-like bilateral widening of the sylvian fissures is the first sign of GA-I, followed by progressive fronto-temporal and ventricular enlargement. These patients should be screened for GA-I in order to initiate treatment in the asymptomatic stage.

Abnormalities, Multiple↗
PubMed1999

Azygos continuation of the inferior vena cava: sonographic demonstration of the renal artery ventral to the azygos vein as a clue to diagnosis.

OBJECTIVE: The purpose of this report is to describe the relationship between the renal artery and the azygos vein in patients with congenital infrahepatic interruption of the inferior vena cava with azygos continuation. CONCLUSION: Using abdominal sonography, we showed that in patients with interruption of the inferior vena cava with azygos continuation, the renal artery is ventral to the azygos vein. Because this malformation is frequently associated with cardiac and situs anomalies, awareness of the anatomic relationship between the renal artery and the azygos vein can aid in diagnosis and may substitute for more expensive and invasive diagnostic procedures.

Abnormalities, Multiple↗
PubMed1998

Neopterin levels and pulmonary tuberculosis in infants.

Neopterin is produced and released by human macrophages in response to stimulation with interferon-gamma and changes in neopterin concentrations indicate cellular immune activation. Pulmonary infection with Mycobacterium tuberculosis is also associated with increased neopterin levels in body fluids. We report the clinical course, the diagnostic results, and the urinary neopterin levels of seven children (ages 10 months-6(6/12) years) with pulmonary tuberculosis. Two of them had progressive primary tuberculosis, in one case caused by isoniazid resistance. Diagnostic criteria included chest radiographs, intradermal tuberculosis skin testing, and culture of aspirated secretions for tuberculosis. Neopterin levels were determined by high performance liquid chromatography. The five patients with uncomplicated primary disease and a good response to therapy with isoniazid, rifampin, and pyrazinamide showed no or slightly elevated neopterin levels (mean, 458 micromol/mol creatinine). In the two patients with progressive primary tuberculosis we documented excessively high neopterin levels (mean, 2170 micromol/mol creatinine). We conclude that neopterin may be a useful parameter for measuring the degree of disease activity and the response to therapy.

Antitubercular Agents↗
PubMed1998

Fibrous tumours in children: imaging features of a heterogeneous group of disorders.

BACKGROUND: Fibrous tumours are predominantly soft tissue lesions which are relatively frequent in childhood but are little known. Imaging is often used in the evaluation of these tumours but their characteristics, particularly on US or MRI, have not been studied systematically. OBJECTIVES: To provide an overview of the clinical and imaging features of the different disorders, and to correlate them with the currently used classification schemes. MATERIAL AND METHODS: Twenty-five patients with fibrous tumours were evaluated retrospectively. Clinical histories were studied for the histopathological diagnosis, age, signs and symptoms at presentation, mode of therapy and follow-up where available. Imaging findings were analysed for the following variables: number, location, size, margin and architecture of soft tissue and/or visceral lesions and the presence and pattern of osseous involvement. Comparison with the available literature was performed. RESULTS: The following tumour types were encountered: desmoid fibromatosis (n = 9), myofibromatosis (n = 7), fibromatosis colli (n = 2), congenital-infantile fibrosarcoma (n = 2), adult-type fibrosarcoma (n = 2), fibrous hamartoma of infancy (n = 1), angiofibroma (n = 1) and hyaline fibromatosis (n = 1). CONCLUSIONS: While some tumours were non-specific in their clinical and radiological manifestation, others such as myofibromatosis, fibromatosis colli, fibrous hamartoma of infancy and angiofibroma exhibited a characteristic pattern which allowed a diagnosis to be made even without histology.

Adolescent↗
PubMed1997

Partial nephrectomy in a cystic partially differentiated nephroblastoma.

Cystic partially differentiated nephroblastoma (CPDN) is a rare neoplastic disorder consisting of a well-demarcated cystic lesion of the kidney where blastemal or other embryonic cells are present in the septa of the cysts. Magnetic resonance imaging can detect the cystic character of the lesion and will produce imaging features that are highly suggestive of either CPDN or cystic nephroma (CN) (synonym: multilocular cyst of the kidney), a benign entity. Although malignant potential exists in CPDN, all cases reported to date have had a favorable prognosis after surgery alone. Partial nephrectomy is considered safe, and the treatment of choice in the newborn period. We report a case of CPDN in a newborn that was successfully treated with partial nephrectomy. More than five years after nephron sparing surgery, the involved kidney shows normal anatomical structure except for a diminished upper pole, no evidence of tumor recurrence and good renal function.

Cysts↗
PubMed1997

Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome.

We had the opportunity to investigate the early abnormalities of the eyes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using colour doppler imaging in the 4-month-old girl from this affected family we demonstrated persistent hyperplastic primary vitreous in both eyes. Her brother's eyes had developed a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein expressed in bone and eye.

Abnormalities, Multiple↗