Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma.

Subdural hematoma (SDH) in infants raises the concern for nonaccidental trauma (NAT), especially when presenting with associated injuries. However, isolated SDH could be caused by multiple etiologies. NFIA (MIM# 600727) encodes nuclear factor I A protein (NFI-A), a transcription factor which plays important roles in gliogenesis.

White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy.

Background: Congenital myotonic dystrophy (CDM1) is an autosomal dominant genetic disorder caused by abnormal cytosine-thymine-guanine trinucleotide repeat expansion that results in weakness and cognitive deficits. Studies detailing brain magnetic resonance imaging (MRI) findings in neonates and children with this condition are limited.

Objective: We evaluated the brain MRI findings in children, including neonates with CDM1, to assess the nature of central nervous system involvement and progression of MRI lesions over time.