Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma. Issue 5 (10th January 2022)

• Record Type: Journal Article
• Authors: Wongkittichote, Parith; Kondis, Jamie S.; Peglar, Lindsay M.; Strahle, Jennifer M.; Miller‐Thomas, Michelle; Abell, Katherine B.
• Is Part Of: American journal of medical genetics. Volume 188:Issue 5(2022)
• Page Start: 1538
• Page End: 1544
• Publication Date: 2022-01-10
• Subjects: abusive head trauma -- NFIA‐related disorder -- subdural hematomas; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62647
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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.