Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Naoko Wada; Toyojiro Matsuishi; Michiko Nonaka; Etsuo Naito; Makoto Yoshino

doi:10.1016/s0387-7604(03)00072-x

Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Brain Dev. 2004 Jan;26(1):57-60. doi: 10.1016/s0387-7604(03)00072-x.

Authors

Naoko Wada¹, Toyojiro Matsuishi, Michiko Nonaka, Etsuo Naito, Makoto Yoshino

Affiliation

¹ Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, 830-0011, Kurume, Japan.

PMID: 14729417
DOI: 10.1016/s0387-7604(03)00072-x

Abstract

Enlargement of the lateral ventricles and atrophy of the brain were documented ultrasonographically in utero at as early as 28th week of gestation in a female patient with lactic acidosis due to deficiency of the pyruvate dehydrogenase E1alpha subunit, demonstrating that the changes characteristic of this disease can occur antenatally. The mechanism of infantile spasms in this disease may be linked to mosaicism of the brain cells involving the normal enzyme and the mutant enzyme.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Electroencephalography
Evoked Potentials, Auditory
Female
Fetal Diseases / pathology*
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Pregnancy
Prenatal Diagnosis*
Pyruvate Dehydrogenase (Lipoamide) / deficiency*
Pyruvate Dehydrogenase Complex Deficiency Disease / complications*
Pyruvate Dehydrogenase Complex Deficiency Disease / pathology*
Spasms, Infantile / etiology*

Substances

Pyruvate Dehydrogenase (Lipoamide)
pyruvate dehydrogenase E1alpha subunit