Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Deficiency Relevant markers:

ColpocephalyDelayed closure of the Sylvian fissureDilated 3rd ventricleMega cisterna magnaMicrocephalyMild ventriculomegaly (12-15 mm)Opercular dysplasiaPartial agenesis of corpus callosumPeriventricular hyperechogenicityPeriventricular leucomalacia (per MRI)Periventricular pseudocystShort corpus callosumCerebral atrophy (MRI)Cisternal enlargement (MRI)

Parents markers:

Agenesis of corpus callosum (ACC)Hypoplasia/atrophy of cerebellumIntrauterine growth retardation (IUGR/SGA/FGR)Ventriculomegaly

Involved genes:
(gene — definition — chromosome)

PDHA1 — PYRUVATE DEHYDROGENASE, ALPHA-1 — Xp22.12, PDHB — PYRUVATE DEHYDROGENASE, BETA POLYPEPTIDE — 3p14.3

Inheritance mode:

AR, X-linked dominant

References:

2012	J Clin Ultrasound	Case report	Read on PubMed
2016	J Neuropathol Exp Neurol	Case series (4 cases)	Read on PubMed