Longitudinal quantitative analysis of the tuber-to-brain proportion in patients with tuberous sclerosis.

Object: In patients with tuberous sclerosis complex (TSC), the tuber-to-brain proportion (TBP) is a marker of seizure severity and cognitive function. However, few studies have quantified the TBP. Furthermore, authors of these studies have measured the TBP at only a single time point, despite the fact that tuber cells were found to express proliferation markers, suggesting that they may be dynamic lesions.

Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly.

We report a case of the middle interhemispheric variant of holoprosencephaly (MIH) with noncleavage of the posterior portion of the frontal lobes and the parietal regions in a fetus at 22 weeks' gestation. To our knowledge, this is the first case of the rare MIH variant to be diagnosed in utero by use of ultrafast MR imaging and one of the few such reports to document gross and microscopic pathologic findings. Neuroimaging results correlated with those of gross and microscopic pathologic specimens obtained from the stillborn child.

In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.

We present a unique finding of an elevated level of pyruvate at 2.37 ppm revealed by in vivo MR spectroscopy of a female neonate. Low fibroblast pyruvate dehydrogenase (PDH) complex activity subsequently confirmed a diagnosis of PDH deficiency.