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  • 1
    Electronic Resource
    Electronic Resource
    Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 510-516 
    Details
    ISSN: 1432-1076
    Keywords: Cerebral calcification Lactic acidosis ; Respiratory chain Mitochondrial encephalopathy Neuronal migration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In two sibs antenatal ultrasonography revealed identical intracranial calcification, ventricular widening and microcephaly. The first pregnancy was artificially terminated at 19 weeks. Post-mortem examination of the brain revealed destructive calcification and extracerebral neuronal heterotopia. The second sib went to term but died 48 h after birth from irreversible lactic acidosis. Autopsy showed extensive encephalopathy with cavitation and calcification in the cerebral hemispheres, polymicrogyria, multiple neuronal heterotopia, partial callosal dysgenesis, and severe Leigh syndrome, together forming a continuum of early and late brain disruption. Mitochondrial respiratory chain abnormalities, mainly affecting complexes I and IV, and deficiency of pyruvate dehydrogenase complex were detected in skeletal muscle and in liver. A normal functioning of the respiratory chain was found in the fibroblasts. Analysis of mtDNA from muscle, liver and blood revealed normal amounts of intact mtDNA without any of the known point mutations associated with MELAS, MERRF or Leigh syndromes. The early fetal disruption and necrotic changes in the brains of sibs indicate a specific genetically determined disorder which affects neuronal migration, a finding not previously associated with respiratory chain disorders. The present disorder may mimic antenatal congenital infectious encephalopathy because of the combined finding of microcephaly and destructive intracerebral calcification.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957007
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 510-516 
    Details
    ISSN: 1432-1076
    Keywords: Key words     Cerebral calcification ; Lactic acidosis ; Respiratory chain ; Mitochondrial encephalopathy ; Neuronal migration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      In two sibs antenatal ultrasonography revealed identical intracranial calcification, ventricular widening and microcephaly. The first pregnancy was artificially terminated at 19 weeks. Post-mortem examination of the brain revealed destructive calcification and extracerebral neuronal heterotopia. The second sib went to term but died 48 h after birth from irreversible lactic acidosis. Autopsy showed extensive encephalopathy with cavitation and calcification in the cerebral hemispheres, polymicrogyria, multiple neuronal heterotopia, partial callosal dysgenesis, and severe Leigh syndrome, together forming a continuum of early and late brain disruption. Mitochondrial respiratory chain abnormalities, mainly affecting complexes I and IV, and deficiency of pyruvate dehydrogenase complex were detected in skeletal muscle and in liver. A normal functioning of the respiratory chain was found in the fibroblasts. Analysis of mtDNA from muscle, liver and blood revealed normal amounts of intact mtDNA without any of the known point mutations associated with MELAS, MERRF or Leigh syndromes. The early fetal disruption and necrotic changes in the brains of sibs indicate a specific genetically determined disorder which affects neuronal migration, a finding not previously associated with respiratory chain disorders. The present disorder may mimic antenatal congenital infectious encephalopathy because of the combined finding of microcephaly and destructive intracerebral calcification.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957007
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Intrachromosomal insertions: a case report and a review (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 1-9 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We describe the phenotype of a child having a recombinant chromosome 3 with a duplication 3q13.2 →q25 derived from a paternal inv ins(3)(p25.3q25q13.2). A review of 27 reported cases of intrachromosomal insertions has revealed that for a carrier of intrachromosomal insertion the risk of a child with an unbalanced karyotype is 15%. This risk may be higher for particular insertions. The recombinant chromosome can have a duplication or a deletion of different segments depending on whether the insertion is direct or inverted, paracentric or pericentric, and whether there is meiotic crossing over in the inserted or the interstitial non-inserted segment. Several of the insertions have been difficult to interpret and some of them have been mistaken for paracentric inversions. Caution is therefore indicated in interpreting parental karyotypes of a child with a deletion or a duplication, particularly if it is interstitial. This is because, whereas a risk of recurrence of a child with an unbalanced karyotype is low in de novo cases and for carriers of paracentric inversions, it is high for carriers of insertions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207032
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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