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  • 1
    Electronic Resource
    Electronic Resource
    Glomerulocystic renal disease: ultrasound appearances (1989)
    Springer
    Pediatric radiology 19 (1989), S. 184-186 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Renal and hepatic sonography were performed in 2 neonates with glomerulocystic renal disease. One neonate had ultrasound findings of normal hypoechoic medullary pyramids, enabling differentiation from infantile polycystic renal disease. Previous case reports have highlighted the similarity of renal ultrasound findings in these two conditions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02388653
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  • 2
    Electronic Resource
    Electronic Resource
    Persistent müllerian duct syndrome with transverse testicular ectopia (1987)
    Springer
    Pediatric surgery international 2 (1987), S. 191-194 
    Details
    ISSN: 1437-9813
    Keywords: Persistent müllerian ducts ; Transverse testicular ectopia ; Gubernaculum ; Round ligament
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with the combined anomalies of persistent müllerian ducts and testicular ectopia presented with a right inguinal hernia. He represents the 14th case to be documented outside Japan. A review of the literature on persistent müllerian duct syndrome has permitted a new classification of the anatomical variants to be determined. It is proposed that the testes have prolapsed into the hernial sac rather than descending in the normal way. Furthermore, the high frequency of transverse ectopia in patients with persistent müllerian ducts may be caused by the absence of round ligaments to immobilize the genital tract.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00185152
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  • 3
    Electronic Resource
    Electronic Resource
    Biliary cystadenoma in a young child (1986)
    Springer
    Pediatric surgery international 1 (1986), S. 72-73 
    Details
    ISSN: 1437-9813
    Keywords: Biliary cystadenoma ; Childhood ; Solitary multilocular non-parasitic liver cyst ; Ultrasound
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Biliary cystadenomas are rare slow-growing multiloculated lesions which arise from the liver, mainly in middle-aged females, and are occasionally complicated by malignant transformation into cystic adenocarcinoma. This paper reports a case occurring in a 1-year-old male child. The typical radiological appearances that would enable a preoperative diagnosis to be made are described. Careful review of the histological features suggests that the biliary cystadenoma and the slightly less rare, solitary multilocular nonparasitic cyst of the liver in childhood are the same lesion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00171788
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Pulmonary haemangioma: a cause of neonatal respiratory distress (1989)
    Springer
    Pediatric surgery international 4 (1989), S. 127-129 
    Details
    ISSN: 1437-9813
    Keywords: Neonatal respiratory distress ; Pulmonary haemangioma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Haemangiomas are common benign skin lesions occurring in about 10% of all babies under 1 year of age. In rare cases they may be combined with haemangiomas of another area of the body. This report documents a solitary intrapulmonary haemangioma involving the entire right upper lobe in association with multiple similar skin lesions. Neonatal respiratory distress was the presenting symptom.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00181852
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  • 5
    Electronic Resource
    Electronic Resource
    Esophageal atresia with tracheo-esophageal fistula (1986)
    Springer
    Pediatric surgery international 1 (1986), S. 117-121 
    Details
    ISSN: 1437-9813
    Keywords: Esophagus: Atresia ; Tracheobronchial elements ; Stenosis abnormal motility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A histological study was conducted on unoperated specimens from six infants with esophageal atresia and tracheo-esophageal fistula. Sub-serial sections of the distal segment showed tracheobronchial elements in five cases, including cartilage in three. Normal esophageal layering was seen at a variable distance from the tracheobronchial end of the fistula. Tracheobronchial elements, including cartilage, were also seen in two other surgical specimens, which suggests that tracheobronchial elements may be very common in tracheo-esophageal fistula, and in some cases may lead to stenosis or abnormal motility following otherwise successful anastomosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00166872
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  • 6
    Electronic Resource
    Electronic Resource
    Gastrointestinal polyposis in infancy and childhood (1988)
    Springer
    Pediatric surgery international 4 (1988), S. 27-34 
    Details
    ISSN: 1437-9813
    Keywords: Juvenile polyposis ; Ulceration ; Regeneration ; Heterogeneous
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical and pathological features in 12 children with symptomatic gastrointestinal polyposis are presented. Five children with Peutz-Jeghers syndrome all presented with intussusception. Three children with Gardner syndrome presented with multiple large epidermoid cysts of the scalp. The other 4 with juvenile polyposis all presented with anaemia, often associated with growth retardation and extragastrointestinal abnormalities. One of these 4, as well as her mother, had Osler disease with pulmonary arteriovenous malformation. Some degree for overlap in the histology was noted between the polyps in the three conditions, and confusion may arise if only small areas are examined. The histological evolution of small lesions in juvenile polyposis and the surgical observation of friability of adjacent non-polypoid mucosa and association with multiple disorders, local as well as generalised, mechanical as well as inflammatory, suggest these to be the result of non-specific ulceration followed by granulation tissue formation, inflammatory infiltration, and irregular epithelial regeneration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00173080
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  • 7
    Electronic Resource
    Electronic Resource
    Striatal degeneration in glutaric acidaemia type II (1989)
    Springer
    Acta neuropathologica 77 (1989), S. 554-556 
    Details
    ISSN: 1432-0533
    Keywords: Glutaric acidaemia type II ; Striatal degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A girl of first cousin parents presented in the 1st year of life with a progressive neurological disease with muscle weakness and hypotonia, accompanied later by dystonia. Investigations, including gas chromatography of urine, showed no abnormality. Autopsy showed marked neuronal loss and gliosis in the putamen and globus pallidus. The activity of glutaryl-CoA dehydrogenase in cultured fibroblasts was normal, but the activity of electron transfer flavoprotein was markedly diminished. Retrospective study of urine by capillary gas chromatography/mass spectrometry showed small amounts of glutaric and other organic acids. This is the first report of striatal degeneration in association with glutaric acidaemia type II. The neuropathological changes were milder than those in glutaric acidaemia type I.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687259
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  • 8
    Electronic Resource
    Electronic Resource
    Neuropathology in glutaric acidaemia type 1 (1988)
    Springer
    Acta neuropathologica 76 (1988), S. 590-594 
    Details
    ISSN: 1432-0533
    Keywords: Glutaric acidaemia ; Striatal degeneration ; Spongiosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The neuropathology in three cases of glutaric acidaemia type 1 is presented. All three showed extensive neuronal loss in the caudate nucleus and the putamen, with only small numbers of large neurons surviving. The globus pallidus showed moderate shrinkage and gliosis but no conspicous decreases in neurons. Severe spongiform change was seen in many regions, involving predominantly white matter. These features are very similar to some cases described previously in familial striatal degeneration in childhood, but are different from other cases. If found in a brain at autopsy, they should lead to studies to diagnose glutaric acidaemia type 1 restrospectively, so that accurate genetic counselling and prenatal diagnosis in future pregnancies can be offered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00689597
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  • 9
    Electronic Resource
    Electronic Resource
    Neuropathology in cerebral lactic acidosis (1987)
    Springer
    Acta neuropathologica 74 (1987), S. 393-396 
    Details
    ISSN: 1432-0533
    Keywords: Lactic acidosis ; Cerebral malformation ; Degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The neuropathology in two young infants with cerebral lactic acidosis is presented. Both cases showed microcephaly, ventricular dilatation, absent corpus callosum, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial overgrowth into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix. The cerebellum, basal ganglia, Ammon's horn, inferior colliculi and layering of the cortex were well preserved. The features suggest a continuous damage with very old, relatively old and recent lesions. This striking combination of abnormalities should raise the possibility of a disturbance of lactate/pyruvate metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687218
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  • 10
    Electronic Resource
    Electronic Resource
    Congenital absence of pyramids and its significance in genetic diseases (1985)
    Springer
    Acta neuropathologica 65 (1985), S. 313-317 
    Details
    ISSN: 1432-0533
    Keywords: Congenital absence of pyramids ; X-linked aqueductal stenosis ; Other genetic syndromes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Bilateral absence of the pyramids, best assessed in transverse sections of the medulla oblongata, was found in 0.7% of 2,850 autopsies performed at the Royal Children's Hospital, Melbourne (Australia). A strong association with some forms of congenital aqueductal stenosis was observed and evaluated in further cases ascertained through other hospitals. The very strong association observed with X-linked congenital aqueduct stenosis may be useful diagnostically but must be evaluated in other centres. At least, the presence of pyramids seems strong evidence against this diagnosis. Absence of the pyramids was also observed in several known or new genetic syndromes — Meckel's syndrome, the HARD syndrome, two sisters with congenital aqueductal stenosis and polydactyly and two families with microcephaly and arthrogryposis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687014
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