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  • 1
    Electronic Resource
    Electronic Resource
    A specific point mutation in the mitochondrial genome of Caucasians with MELAS (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 233-236 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) exhibits a specific heteroplasmic A→G transition in the tRNALeu at position 3243. In this study, we investigated mtDNA from skeletal muscle, cardiac muscle, brain, liver, diaphragm, fibroblasts and blood cells of four Caucasians with MELAS, one younger healthy sister of two MELAS patients, and eleven controls. We found that 1) the mutation was present in all investigated tissues of Caucasians with MELAS but not in controls, 2) within a single patient, the tissue-specific variation of the copy number of mutated mtDNA covered the same range as in the skeletal muscle of different patients, 3) the mutation was also present in the blood cells of the healthy sister of two MELAS siblings.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206080
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  • 2
    Electronic Resource
    Electronic Resource
    Evaluation of myelination and myelination disorders with turbo inversion recovery magnetic resonance imaging (1997)
    Springer
    European radiology 7 (1997), S. 1478-1484 
    Details
    ISSN: 1432-1084
    Keywords: Key words: MR imaging ; Turbo inversion recovery ; Brain ; Growth and development ; Myelin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. The aim of our work was to determine the efficacy of turbo inversion recovery spin echo (TIRSE) pulse sequences in differentiating patients with normal and abnormal myelination. Twenty neurological normal children (aged 5 months to 12 years) as well as 65 children presenting clinically with neurologic developmental deficits (aged 2 months to 10 years) were examined using TIRSE, T1-weighted SE, and T2-weighted turbo SE pulse sequences. Contrast-to-noise-ratio (CNR) between myelinated white and gray matter was compared for the different pulse sequences. In addition, two readers analyzed all images qualitatively by consensus. The CNR values were significantly higher on TIRSE images as compared with conventional images (p 〈 0.05). Forty-two neurologically abnormal patients displayed a normal myelination on all sequences, whereas 23 showed an abnormal myelination. The TIRSE sequence provided a sensitive and specific depiction of an abnormal myelination in all of these patients. The TIRSE sequence provided additional information to conventional pulse sequences in determining myelination disorders in children, especially in children older than 2 years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003300050320
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  • 3
    Electronic Resource
    Electronic Resource
    Craniocervical artery dissection: MR imaging and MR angiographic findings (1999)
    Springer
    European radiology 9 (1999), S. 1385-1391 
    Details
    ISSN: 1432-1084
    Keywords: Key words: Carotid artery ; Vertebral artery ; Dissection ; MR imaging ; MR angiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Dissection of the carotid and vertebral arteries is a not so uncommon cause of stroke and has to be considered as a differential diagnosis especially in younger patients. Therapeutic and prognostic implications are different from those in extracranial atherosclerotic disease. Dissection results from hemorrhage into the vessel wall usually between the layers of the media. Digital subtraction angiography (DSA) depicts the resulting luminal compromise that may reveal some typical, but not specific, findings. The same is true for non-invasive angiographic techniques such as time-of-flight magnetic resonance angiography (MRA) and computed tomography angiography (CTA), which have shown accurate results compared with DSA. The main advantage of these techniques is the direct visualization of the vessel wall confirming the intramural hematoma. This is achieved best with MR imaging due to the high signal of blood degradation products on T1- and T2-weighted images. Therefore, MRI in combination with MRA is presently the method of choice for initial diagnosis and follow-up of craniocervical artery dissection (CCAD). In some questionable cases, CTA is a non-invasive alternative that is independent of flow phenomena.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003300050853
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  • 4
    Electronic Resource
    Electronic Resource
    Therapy of complex I deficiency: Peripheral neuropathy during dichloroacetate therapy (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 928-932 
    Details
    ISSN: 1432-1076
    Keywords: Complex I deficiency ; Polyvitamin therapy ; Dichloroacetate therapy ; Polyneuropathy ; Thiamine administration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A therapeutic trial with polyvitamins and dichloroacetate (DCA) in combination with thiamine in a 13-year-old girl with complex I deficiency is reported. The polyvitamin therapy included thiamine, riboflavin, ascorbate, coenzyme Q 10 and carnitine. This therapeutic regine was used over a period of 17 months without any effect. Although DCA lowered the lactate concentration in blood and CNS — measured by magnetic resonance spectroscopy — no clinical benefit was achieved. After 20 weeks of DCA therapy a distal polyneuropathy with areflexia developed although 100 mg thiamine daily as comedication was given from the beginning of DCA therapy. Nerve conduction velocity of the peroneal nerve was not detectable, sensible evoked potentials of the tibialis posterious nerve were normal. This side-effect resolved completely within 6 months after omission of DCA. Our observation suggests a direct toxic effect of DCA only on the peripheral nervous system in our patient since several cerebral MRI and magnetic resonance spectroscopy studies showed no abnormalities. Conclusion DCA lowers the lactate concentration in children with complex I deficiency of the respiratory chain in a dose of 100 mg/kg body weight without clinical benefit. Reversible peripheral polyneuropathy may develop under DCA therapy despite thiamine medication.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957508
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  • 5
    Electronic Resource
    Electronic Resource
    Concentrations of lamotrigine in a mother on lamotrigine treatment and her newborn child (1997)
    Springer
    European journal of clinical pharmacology 51 (1997), S. 481-484 
    Details
    ISSN: 1432-1041
    Keywords: Key words Lamotrigine ; Breast feeding; protein binding ; placental transfer ; neonatal drug metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract Objective: To investigate the transfer of lamotrigine in pregnancy and during lactation from a mother on lamotrigine treatment to her child. Methods: Concentrations of lamotrigine were measured by high-pressure liquid chromatography in umbilical cord serum and in serum samples of the mother and her child as well as in the mother's milk during the first five postpartum months. Results: In the child lamotrigine serum concentrations (up to 2.8 μg ml−1) comparable to those usually achieved in active treatment with lamotrigine were found not only after birth, but also during lactation. A considerable amount of lamotrigine (2–5 mg per day) was excreted in breast milk. No adverse effects were seen in the child. Conclusion: The transfer of lamotrigine taking place during pregnancy and lactation should not be neglected. In this case the child should be thoroughly observed for potential adverse effects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002280050234
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  • 6
    Electronic Resource
    Electronic Resource
    Neuroimaging in lissencephalies (1993)
    Springer
    Child's nervous system 9 (1993), S. 391-393 
    Details
    ISSN: 1433-0350
    Keywords: Lissencephalies ; Imaging ; Ultrasonography ; Computed tomography ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Based on the published literature and on our own experiences in the imaging of lissencephalies with ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) we propose a strategy for the use of the different methods depending on the clinical symptoms and the age of the patient. In newborns and babies with suspected lissencephaly ultrasound should be used as the first method. If there is a cortical malformation and a more thorough examination seems necessary, CT can be used in type I lissencephaly. However, due to its excellent grey-white matter contrast MRI is the best method for imaging of lissencephalies. Especially in the diagnosis of type II lissencephaly, MRI is definitely superior to CT and US, and so it should be used in all patients with Walker-Warburg syndrome and other congenital muscular dystrophies as well as in all doubtful cases. It must always be remembered that the extent of the cortical dysplasias is quite variable, as is the presence of further malformations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00306190
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  • 7
    Electronic Resource
    Electronic Resource
    CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report (1996)
    Springer
    Neuroradiology 38 (1996), S. 796-799 
    Details
    ISSN: 1432-1920
    Keywords: Key words Ornithine transcarbamylase deficiency ; Computed tomography ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report CT and MRI findings in a girl with late-onset ornithine transcarbamylase deficiency, who presented with progressive somnolence. Both imaging methods showed signs of an acute cerebral ischaemia with new defects on follow-up. Despite an unusual clinical presentation, laboratory studies led to the diagnosis of this rare inherited metabolic defect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050351
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  • 8
    Electronic Resource
    Electronic Resource
    Renal involvement in tuberous sclerosis complex: a retrospective survey (1994)
    Springer
    Pediatric nephrology 8 (1994), S. 451-457 
    Details
    ISSN: 1432-198X
    Keywords: tuberous sclerosis complex ; Angiomyolipomatosis ; Renal cysts ; Haemorrhage ; Ultrasound ; Magnetic resonance imaging ; Renal failure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00856529
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  • 9
    Electronic Resource
    Electronic Resource
    Lissencephaly syndromes: clinical aspects (1993)
    Springer
    Child's nervous system 9 (1993), S. 380-386 
    Details
    ISSN: 1433-0350
    Keywords: Type I lissencephaly ; Type II lissencephaly ; Walker- ; Warburg syndrome ; EEG
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report clinical and neurophysiological findings in six children (three female, three male) with type I lissencephaly and three children (all female) with type II lissencephaly (Walker-Warburg syndrome). In type I lissencephaly the diagnosis is based only on electroencephalographic (EEG) signs, whereas in type II lissencephaly the diagnosis rests on clinical signs. In type I lissencephaly the EEG typically shows high α-β activity, which is not seen in type II lissencephaly.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00306188
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  • 10
    Electronic Resource
    Electronic Resource
    Temporäre Amaurose nach Kraniopharyngeomoperation (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 1067-1069 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Kraniopharyngeom ; Amaurose ; Chiasma ; Hormone ; Operation ; Key words Kraniopharyngioma ; Blindness ; Chiasma ; Endocrine dysfunction ; Surgery
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Craniopharyngiomas are the third frequent pediatric brain tumors. Complications after surgical treatment are common. The most frequent complications are endocrine disturbances, vision field defects, deteriorated acuity, cognitive or psychological deficiency as well as significant weight gain. A case of complete vision loss right after surgical removal of craniopharyngioma is reported. Magnetic resonance image showed an edema of the chiasm. No damage of anatomical structure could be detected. Seventeen days after surgery the patient reported intermittent visual impressions for the first time. Over the following weeks his visus improved to 0.5, while the chiasm edema disappeared. Discussion: Even weeks after surgery-induced blindness regeneration of sufficient visus is possible.
    Notes: Zusammenfassung Das Kraniopharyngeom ist der dritthäufigste Hirntumor des Kindesalters. Komplikationen nach Kraniopharyngeomoperationen sind häufig. Zu den häufigsten Komplikationen zählen endokrine Störungen, Visusverschlechterung, Gesichtsfeldausfälle, emotionale und kognitive Veränderungen sowie Gewichtszunahme. Wir berichten über 1 Patientin, bei der unmittelbar nach der Operation eines Kraniopharyngeoms eine vollständige Amaurose auftrat. Bei intakten anatomischen Strukturen zeigte das MRT eine Ödem im Bereich des Chiasmas. 17 Tage nach der Operation traten erstmals wieder Seheindrücke auf, die sich im Verlauf von 6 Wochen bis zu einem Visus von 0,5 steigerten. Parallel dazu wies die Bildgebung einen Rückgang des Chiasmaödems auf. Diskussion: Auch Wochen nach einer eingetretenen operationsbedingten Amaurose kann bei intakten anatomischen Strukturen mit der Wiedererlangung eines ausreichenden Visus gerechnet werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050366
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