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  • 1
    Electronic Resource
    Electronic Resource
    Thromboembolisehe Komplikationen und Thrombocytenanomalien bei Homocystinurie (1972)
    Springer
    European journal of pediatrics 112 (1972), S. 309-320 
    Details
    ISSN: 1432-1076
    Keywords: Homocystinuria ; Thromboembolism ; Platelets
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In der vorliegenden Arbeit wird über 7 Patienten mit Homocystinurie berichtet. Bei 4 von ihnen traten thromboembolische Komplikationen auf, die zweimal Todesursache waren. Autoptisch konnten in diesen beiden Fällen Sinus- und Gehirnvenenthrombosen sowie Hirnerweichungsherde nachgewiesen werden. Bei 6 Patienten mit Homocystinurie wurden die Thrombocyten isoliert und elektronenoptisch untersucht. Als konstanter befund zeigte sich eine erhebliche Vacuolisierung im Cytoplasma der Thrombocyten. Diese Veränderung werden als Hinweis für die thrombocytogene Natur, der Gerinnungsstörung bei Homocystinurie angesehen.
    Notes: Abstract 7 patients with homocystinuria are reported. In 4 of them thromboembolic complications occurred, resulting in death of 2 patients. The postmortem examination in both of these cases showed thromboses of sinus and cerebral veins as well as encephalomalacic lesions. In 6 patients with homocystinuria platelets were isolated and investigated by electron microscopy. A constant finding was a distinct vacuolization of the platelet cytoplasm. These changes were regarded as an indication of the thrombocytogenic nature of the coagulation disorder in homocystinuria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00438625
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  • 2
    Electronic Resource
    Electronic Resource
    Vacuolated lymphocytes in type II glycogenosis —A diagnostic approach? (1977)
    Springer
    European journal of pediatrics 127 (1977), S. 1-7 
    Details
    ISSN: 1432-1076
    Keywords: Glycogenosis type II ; Lymphocytes ; Electron microscopic examination ; Diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Using electron microscopy, glycogen-filled lysosomes were found in peripheral lymphocytes in 5 cases of the infantile form of glycogenosis type II. In two infants whose blood smears were available, the ultrastructural demonstration of this pathognomonic storage corresponded to well-delineated vacuoles detected by routine light microscopy. Detection of such vacuoles in peripheral lymphocytes by light microscopy and demonstration of glycogenfilled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00465559
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  • 3
    Electronic Resource
    Electronic Resource
    Glycogen storage disease Type I. Results of treatment with frequent daytime feeding, combined with nocturnal intragastric feeding and with administration of an α-glucosidase inhibitor (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 102-104 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type I ; Hypoglycemia ; Hypertriglyceridemia ; Growth rate ; α-Glucosidase inhibitor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Seven patients with glycogen disease type I have been treated with nocturnal intragastric feeding combined with frequent daytime feeding. Follow-up shows a striking improvement in their clinical condition including growth rate. Determination of biochemical parameters reveals a significant increase of lactate, pyruvate, alanine, uric acid, triglycerides, and SGOT in blood. Additional administration of an α-glucosidase inhibitor in four patients caused a significant increase in blood lactate despite unchanged blood glucose levels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441652
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  • 4
    Electronic Resource
    Electronic Resource
    The tay syndrome (congenital ichthyosis with trichothiodystrophy) (1984)
    Springer
    European journal of pediatrics 141 (1984), S. 147-152 
    Details
    ISSN: 1432-1076
    Keywords: Tay syndrome ; Ichthyosis ; Sulfur-deficient brittle hair ; Mental retardation ; Short stature
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 5-year-old boy affected with the Tay syndrome, and give a review of 12 pertinent cases previously reported under various designations. The Tay syndrome is a distinct type of congenital ichthyosis characterized by a peculiar anomaly of hair growth which has been termed trichothiodystrophy. The hair shafts are extremely brittle, and they show alternating light and dark banding when examined microscopically between polarizing filters. Other features of this syndrome are low birth weight, short stature, mental retardation, delayed neuromuscular development and other CNS anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely aged facial appearance, hypogonadism, cataracts, osteosclerosis, dysphonia, and increased susceptibility to infections. The syndrome is inherited as an autosomal recessive trait. We delineate the criteria for distinguishing this gene defect from other types of congenital ichthyosis associated with disturbed hair growth, as well as from other types of trichothiodystrophy which are not associated with ichthyosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443212
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  • 5
    Electronic Resource
    Electronic Resource
    Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III (1979)
    Springer
    European journal of pediatrics 130 (1979), S. 251-258 
    Details
    ISSN: 1432-1076
    Keywords: Mucopolysaccharidoses ; Sanfilippo C disease ; Acetyl CoA: α-glucosaminide N-acetyltransferase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new genetic variant of the Sanfilippo syndrome due to deficiency of acetyl CoA: α-glucosaminide N-acetyltransferase, was recently demonstrated in four patients. The clinical findings of these patients are reported here. Differential diagnosis from other types of the Sanfilippo syndrome on clinical and routine laboratory criteria is difficult and enzyme assay is necessary to reach the diagnosis. Since two of the patients reported are females and consanguinity was present in one case, autosomal recessive inheritance is most probable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441361
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  • 6
    Electronic Resource
    Electronic Resource
    Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 199-203 
    Details
    ISSN: 1432-1076
    Keywords: Homocystinuria ; Thromboembolism ; Pyridoxine ; Low-methionine diet ; Atherosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical outcome in 12 late-diagnosed patients with homocystinuria is reported. Three children died: all were mentally damaged and were never treated effectively. Eight children have been treated with pyridoxine—or with a low-methionine diet with supplemental l-cystine—for 2 to 9 years. Follow-up of these patients shows a striking improvement in behaviour and intellectual development in close correlation to the biochemical normalisation. No thromboembolic episodes occurred in adequately treated patients. However, in one child thrombosis of the retinal artery developed during dietary failure. In another patient the characteristic symptoms of an endangiitis obliterans completely disappeared. Both the reversibility and the improvement of some of the main sequelae in homocystinuria emphasize the need to treat all patients, regardless of their age at diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441642
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  • 7
    Electronic Resource
    Electronic Resource
    The clinical findings in a patient with nonketotic hyperglycinemia (1973)
    Springer
    European journal of pediatrics 114 (1973), S. 191-204 
    Details
    ISSN: 1432-1076
    Keywords: Nonketotic hyperglycinemia ; Crystalline inclusions in lysosomes of liver parenchymal cells ; Glycine and serin free diet
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über einen weiteren Fall der nichtketotischen Form der Hyperglycinämie berichtet. Hyperglycinämie, Hyperglycinurie, mentale Retardierung, das Fehlen von Neutropenie, Thrombocytopenie, Acidose und Ketose sowie In vitro-Bestimmung der Glycin-Serin-Konversion im Lebergewebe bestätigen die Diagnose. Elektronmikroskopisch konnten in den Lysosomen der Leberparenchymzellen osmiophobe, kristalline Einschlüsse gefunden werden, die möglicherweise durch gesteigerte Glycinkonjugation entstandene Hippursäure sein könnten. Nach Einstellung auf eine glycin- und serinfreie Diät besserte sich das pathologisch gestörte EEG. Krämpfe wurden nicht mehr festgestellt. Der Glycinspiegel im Serum senkte sich deutlich. Die zusätzliche Gabe von Cholin und Benzoesäure bewirkte keine weitere Senkung des Glycinspiegels.
    Notes: Abstract A new case of nonketotic hyperglycinemia is reported. Hyperglycinemia, hyperglycinuria and mental retardation without neutropenia, thrombocytopenia, acidosis, ketosis, and the in vitro study of glycine-serine conversion in liver homogenate confirmed the diagnosis. Using electronmicroscopy osmiophobe, crystalline inclusions were found in lysosomes of liver parenchymal cells. These inclusions could be hippuric acid produced by increased conjugation of glycine. Under a glycine and serine free diet the pathologic EEG improved. Seizures did not recur. Glycine level in serum decreased. Administration of cholin and benzoic acid did not lower the glycine level in serum.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00497423
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  • 8
    Electronic Resource
    Electronic Resource
    Hyperphenylalaniaemia due to dihydropteridine reductase deficiency (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 93-98 
    Details
    ISSN: 1432-1076
    Keywords: Hyperphenylalaninaemia ; Phenylalanine hydroxylase ; Dihydropteridine reductase ; Neurotransmitter
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two siblings with increased levels of serum phenylalanine were detected by newborn screening. The older sibling deteriorated neurologically and mentally, despite early dietary control, and died at the age of 6 1/2 years. In the younger sibling phenylalanine hydroxylase activity in liver tissue was normal. Further investigations revealed increased concentrations of biopterin derivatives in the blood, a low excretion of 5-hydroxyindole acetic acid in the urine, and a dihydropteridine reductase deficiency as the cause of hyperphenylalaninaemia. The parents of the siblings showed 50% of the normal dihydropteridine reductase activity in their fibroblasts grown in culture. Neurotransmitter therapy was started in the second child at the age of 6 months and this was followed by distinct neurological and mental improvement.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442368
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  • 9
    Electronic Resource
    Electronic Resource
    Fatal pneumopathy after cytostatic treatment for leukemia in children (1979)
    Springer
    Journal of cancer research and clinical oncology 94 (1979), S. 287-294 
    Details
    ISSN: 1432-1335
    Keywords: Pneumopathy ; Cytostatic therapy ; Childhood leukemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two cases of fatal pneumopathy during cytostatic therapy for acute lymphatic leukemia of childhood, are reported with pathoanatomical lung findings and general clinical features. Histology revealed massed atypical epithelial proliferation in the bronchiolar terminal pathways (tumourlets) with multinucleated polymorphic giant cells beside pulmonary fibrosis. As causative factors for pulmonary changes hypersensitivity reactions, direct toxicity, or pharmacologic effects are discussed. Formal pathogenesis is explained by an impairment of endothelial cells in alveolar capillaries followed by permeability disorders and interstitial edema with disturbed perfusion. Disseminated intravasal microthrombl are frequent. Restitution to integrity appears possible only under favorable conditions. If the exsudative turns into the proliferative phase, intraalveolar and interstitial pulmonary fibrosis may develop with atypical epithelial proliferations. The prognosis of cytostatics-induced pneumopathies depends essentially on the time when it is diagnosed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00419288
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  • 10
    Electronic Resource
    Electronic Resource
    Feinstrukturelle Aspekte der Gefäßveränderungen bei Homocystinurie (1971)
    Springer
    Virchows Archiv 354 (1971), S. 44-51 
    Details
    ISSN: 1432-2307
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Homocystinurie ist durch einen ausgesprochenen Mangel des Enzyms Cystathioninsynthetase charakterisiert. Die pathomorphologischen Veränderungen der Gefäßwand werden beschrieben. In der Aorta sind die elastischen Fasern fragmentiert und die glatten Muskelzellen atrophisch und vermindert. In den kleinen Gefäßen und Arteriolen können grundsätzlich dieselben Veränderungen nachgewiesen werden. Außerdem werden amorphe Substanzen in dem erweiterten Intercellularraum beschrieben. Diese Veränderungen werden als Folge einer gestörten Stoffwechselleistung der glatten Muskelzellen aufgefaßt.
    Notes: Summary Homocystinuria is characterized by a pronounced deficiency of the enzyme cystathionine synthetase. The pathomorphological alterations of the vessel wall are described. In the aorta the elastic fibers are fragmented and the smooth muscle cells are atrophic and decreased in number. Basically, the same alterations can be demonstrated in small vessels and arterioles. Furthermore, amorphous substances can be observed in intercellular spaces. These pathomorphological alterations seem to be the result of the disturbed metabolic function of smooth muscle cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00544106
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