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1.
AJNR Am J Neuroradiol ; 25(6): 1034-6, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15205143

RESUMO

We report a case of the middle interhemispheric variant of holoprosencephaly (MIH) with noncleavage of the posterior portion of the frontal lobes and the parietal regions in a fetus at 22 weeks' gestation. To our knowledge, this is the first case of the rare MIH variant to be diagnosed in utero by use of ultrafast MR imaging and one of the few such reports to document gross and microscopic pathologic findings. Neuroimaging results correlated with those of gross and microscopic pathologic specimens obtained from the stillborn child. We conclude that ultrafast MR imaging can accurately distinguish holoprosencephaly subtypes in utero, which may affect counseling of parents.


Assuntos
Holoprosencefalia/patologia , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez
2.
AJNR Am J Neuroradiol ; 24(7): 1471-4, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12917150

RESUMO

We present a unique finding of an elevated level of pyruvate at 2.37 ppm revealed by in vivo MR spectroscopy of a female neonate. Low fibroblast pyruvate dehydrogenase (PDH) complex activity subsequently confirmed a diagnosis of PDH deficiency. Abnormalities of brain development consistent with PDH deficiency were also evident on fetal and postnatal MR images. To our knowledge, this is the first report of pyruvate being shown in vivo in a child and the first report of MR spectroscopy aiding in the diagnosis of inborn error in pyruvate metabolism before confirmation by conventional enzymatic testing. This finding has potential implications for earlier diagnosis in patients with defects in mitochondrial metabolism.


Assuntos
Doença da Deficiência do Complexo de Piruvato Desidrogenase/diagnóstico , Ácido Pirúvico/metabolismo , Anormalidades Múltiplas , Ventrículos Cerebrais/anormalidades , Ventrículos Cerebrais/metabolismo , Feminino , Humanos , Recém-Nascido , Espectroscopia de Ressonância Magnética , Mitocôndrias/metabolismo , Doença da Deficiência do Complexo de Piruvato Desidrogenase/metabolismo , Ultrassonografia Pré-Natal
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