Article Figures & Data
Figures
- Fig 1.
Ultrafast fetal MR images obtained at 34 weeks’ gestation.
A and B, Axial view half-Fourier single shot turbo spin-echo fetal MR images (12/95 [TR/effective TE]; number of acquisitions, one) show enlarged ventricular size and the diffusely abnormal gyral pattern.
C and D, Postnatal coronal view turbo spin-echo T2-weighted MR images (6000/99; number of acquisitions, two) highlight the findings along with the cerebellar subcortical cyst.
- Fig 2.
2D chemical shift MR spectroscopy (TE, 135 ms). Arrow indicates lactate doublet at 1.33 ppm; arrowhead indicates pyruvate peak at 2.37 ppm.
- Fig 3.
Photomicrographs from postmortem examination.
A, Transverse section of the medulla shows ectopic olivary nucleus in inferior cerebellar peduncle (Luxol fast blue cresyl violet; magnification, ×4).
B, Transverse section of the pons shows absence of descending cortical tracts in basis pontis (Luxol fast blue cresyl violet; magnification, ×1).
Tables
Fetal MR Postnatal MR Pathology Absence of the corpus callosum + + + Bilateral hydrocephalus + + + Thin supratentorial parenchyma + + + Irregular gyri + + + Focal heterotopia (right frontal) + + + Diffuse polymicrogyria (right frontal) + + + Focal pachygyria (right frontal) + Cerebellar hemisphere hypoplasia + + + Brainstem hypoplasia + + + Patent aqueduct + + Subcortical cyst (right cerebellum) + + + Hypomylination + + Malfomed inferior olivary and dentate nuclei + Absence of corticospinal tracts + Gliosis and multifocal sclerosis + Plasma CSF Normal Range Lactate 8.7 mM 6.3 mM (0.7–2.0 mM) Pyruvate 0.57 mM 0.01 mM (0.05–0.17 mM) Alanine 517 nm/mL 293 nm/mL Plasma (120–449 nm/ml) CSF (16–57 nm/mL) Patient Control Normal Range PDC activity, activated (in nmol/min/mg protein) 0.14 2.45 1.26–4.42 PDC activity, inactivated (in nmol/min/mg protein) 0.14 0.1 0.19–2.30 Pyruvate carboxylase activity Normal PEP carboxylase activity Normal PDC E3 activity Normal Note.—PDC indicates pyruvate dehydrogenase complex; PEP, phosphoenol pyruvate.
