-transparent.png){kind=logo}
A female neonate with pyruvate dehydrogenase (PDH) deficiency is presented with clinical, radiologic, biochemical, neuropathologic, and molecular genetic data. She was dysmorphic, with a high forehead, lowset ears, thin upper lip, upturned nose, and rhizomelic limbs. Cranial MRI revealed severe cortical atrophy, ventricular dilatation, and corpus callosum agenesis. Pyruvate and lactate levels were increased in CSF and blood. Urinary organic acid profile was compatible with PDH deficiency. PDH activity was normal in fibroblasts, lymphocytes, and muscle. The PDH E1-alpha gene was sequenced and a single base mutation was found within the regulatory phosphorylation site in exon 10. It is postulated that this mutation causes a cerebral form of PDH deficiency. Tissue-specific expression of the disease could be explained by differential X chromosome inactivation because the PDH E1-alpha gene is located on this chromosome. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF.
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
March 1987,
No to hattatsu = Brain and development,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
January 1989,
Annals of the New York Academy of Sciences,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
June 1994,
Pediatric neurology,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
May 2012,
Developmental medicine and child neurology,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
November 1994,
Journal of medical genetics,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
October 2019,
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
January 2012,
Molecular genetics and metabolism,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
July 2012,
Molecular genetics and metabolism,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
July 1983,
Canadian Anaesthetists' Society journal,
L De Meirleir, and
W Lissens, and
R Denis, and
J L Wayenberg, and
A Michotte, and
J M Brucher, and
E Vamos, and
E Gerlo, and
I Liebaers
November 2011,
Brain & development,
