Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal functional connectivity in human and mouse.

Children with the autosomal dominant single gene disorder, neurofibromatosis type 1 (NF1), display multiple structural and functional changes in the central nervous system, resulting in neuropsychological cognitive abnormalities. Here we assessed the pathological functional organization that may underlie the behavioral impairments in NF1 using resting-state functional connectivity MRI. Coherent spontaneous fluctuations in the fMRI signal across the entire brain were used to interrogate the pattern of functional organization of corticocortical and corticostriatal networks in both NF1 pediatric patients and mice with a heterozygous mutation in the Nf1 gene (Nf1).

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Background: Arrest of fetal brain development and the fetal brain disruption sequence describe a severe phenotype involving microcephaly, occipital bone prominence, and scalp rugae. Congenital disorders of glycosylation are a heterogeneous group of inherited disorders involved in glycoprotein and glycolipid biosynthesis, which can cause microcephaly and severe neurodevelopmental disability.

Methods: We report an example of fetal microcephaly diagnosed at 36 weeks' gestation with a history of normal fetal biometry at 20 weeks' gestation.

Fetal MRI evaluation of an intracranial mass: in utero evolution of hemorrhage.

The role of MRI in the evaluation of fetal abnormalities is still under evaluation. We describe a case of an intracranial mass that was initially identified by prenatal ultrasound and was further evaluated by MRI. Ultimately, the findings were most consistent with hematoma secondary to an underlying dural malformation with spontaneous involution.