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Biomedical subjects

I Gassner

Publications and source records attributed to I Gassner.

At least 19 recordsLinked to original sources
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↗
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↗
PubMed1995

Reversible hepatic veno-occlusive disease in an infant after consumption of pyrrolizidine-containing herbal tea.

UNLABELLED: Veno-occlusive disease was diagnosed in an 18-month-old boy who had regularly consumed a herbal tea mixture since the 3rd month of life. The boy developed portal hypertension with severe ascites. Histology of the liver showed centrilobular sinusoidal congestion with perivenular bleeding and parenchymal necrosis without cirrhosis. The tea contained peppermint and what the mother thought was coltsfoot (Tussilago farfara). The parents believed the tea aided the healthy development of their child. Pharmacological analysis of the tea compounds revealed high amounts of pyrrolizidine alkaloids. Seneciphylline and the corresponding N-oxide were identified as the major components by thin-layer chromatography, mass spectrometry and NMR spectroscopy. We calculated that the child had consumed at least 60 micrograms/kg body weight per day of the toxic pyrrolizidine alkaloid mixture over 15 months. Macroscopic and microscopic analysis of the leaf material indicated that Adenostyles alliariae (Alpendost) had been erroneously gathered by the parents in place of coltsfoot. The two plants can easily be confused especially after the flowering period. The child was given conservative treatment only and recovered completely within 2 months. CONCLUSION: In all cases of veno-occlusive disease pyrrolizidine alkaloids ingestion should be excluded. The identity of collected plant material should be verified by pharmaceutically trained experts and information of composition, dosage and mode of administration should be included in guidelines for herbal preparations.

Hepatic Veno-Occlusive Disease↗
PubMed1995

Diagnosis of congenital pericardial defects, including a pathognomic sign for dangerous apical ventricular herniation, on magnetic resonance imaging.

OBJECTIVE: To establish criteria for the accurate diagnosis of different forms of left sided pericardial defects on magnetic resonance imaging. Early detection of a partial apical defect is essential as it is potentially fatal. DESIGN: Examination of four children with congenital pericardial defects by magnetic resonance imaging, the results being compared with the features on conventional chest radiography and echocardiography and with published data. RESULTS: Magnetic resonance imaging improved the ability to diagnose and distinguish between complete and partial left sided pericardial defects. A deep myocardial crease was visualised in a patient with apical pericardial defect, indicating the risk of a life threatening ventricular strangulation. A prominent left atrial appendage was, in contrast to many reports, not a reliable sign for partial left sided pericardial defect. CONCLUSIONS: The various forms of congenital left sided pericardial defects cannot reliably be diagnosed in plain chest radiographs or on echocardiography. Their diagnosis and the distinction between partial and complete defects, however, is of clinical importance and can be accomplished more confidently by magnetic resonance imaging.

Adolescent↗
PubMed1995

Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.

Abnormalities, Multiple↗
PubMed1994

Methotrexate osteopathy in infants with tumors of the central nervous system.

Methotrexate osteopathy, previously reported as a complication of maintenance-therapy for acute lymphoblastic leukemia, is characterized by osteopenia, particularly involving the lower extremities, thick, dense provisional zones of calcification, growth arrest lines, and corner fractures resembling scurvy. In attempts to postpone radiotherapy in infants under three years of age, the multicentric German therapy protocol for childhood central nervous system tumors (HIT-89 protocol) has employed high cumulative methotrexate doses. Here we describe osteopathy in three patients as a toxic side effect after administration of cumulative methotrexate doses of 20 g/m2, 80 g/m2 and 135 g/m2. The high prevalence of this adverse effect in infants with tumors of the central nervous system may be attributed to the long-term therapy with high cumulative methotrexate-doses. Both factors may favor intracellular accumulation of methotrexate and formation of methotrexate-polyglutamates and may be responsible for bone toxicity. Apparently the susceptibility of the rapidly growing skeletal structures of infants under three years of age to this toxic side effect of methotrexate is remarkably high.

Antineoplastic Combined Chemotherapy Protocols↗