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. Loss-of-function variants in NFIA are associated with autosomal dominant brain malformations with or without urinary tract defects (MIM# 613735). Intracranial hemorrhage of various types besides SDH has been reported in patients with this condition. Here, we report a patient with a heterozygous novel NFIA pathogenic variant affecting splicing who initially presented with SDH concerning for NAT. We also review previous NFIA-related disorder cases with intracranial hemorrhage. This report emphasizes the importance of genetic evaluation in infants presenting with isolated SDH.

Original languageEnglish
Pages (from-to)1538-1544
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - May 2022


  • NFIA-related disorder
  • abusive head trauma
  • subdural hematomas


Dive into the research topics of 'Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma'. Together they form a unique fingerprint.

Cite this