Pyruvate dehydrogenase E1α subunit deficiency in a female patient: Evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Brain and Development

Volumn 26, Issue 1, 2004, Pages 57-60

  Wada, Naoko ^a   Matsuishi, Toyojiro ^a   Nonaka, Michiko ^b   Naito, Etsuo ^c   Yoshino, Makoto ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b ST MARY S HOSPITAL   (Japan)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Antenatal brain damage; E1 deficiency; Infantile spasms; Pyruvate dehydrogenase

Indexed keywords

CLONAZEPAM; DICHLOROACETIC ACID; PROTEIN SUBUNIT; PYRUVATE DEHYDROGENASE; VALPROIC ACID; PYRUVATE DEHYDROGENASE E1ALPHA SUBUNIT;

ANAMNESIS; ARTICLE; BRAIN ATROPHY; BRAIN DEVELOPMENT; BRAIN INJURY; BRAIN SIZE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC PROCEDURE; DISEASE COURSE; ECHOGRAPHY; ELECTROENCEPHALOGRAPHY; FEMALE; FETUS; HUMAN; INFANT; INFANTILE SPASM; LABORATORY TEST; LACTIC ACIDOSIS; LATERAL BRAIN VENTRICLE; MEDICAL DOCUMENTATION; NEWBORN; NEWBORN PERIOD; PATHOGENESIS; PHYSICAL EXAMINATION; PRENATAL GROWTH; PRENATAL PERIOD; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SEIZURE; SEX DIFFERENCE; THIRD TRIMESTER PREGNANCY; EVOKED AUDITORY RESPONSE; FETUS DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS;

ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, AUDITORY; FEMALE; FETAL DISEASES; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; PREGNANCY; PRENATAL DIAGNOSIS; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SPASMS, INFANTILE;

EID: 0347091766     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00072-X     Document Type: Article

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