- Research Article
- 10.2174/0122106766399884260119063958
FASI and Cognitive Dysfunction in Pediatric NF-1: A Case-BasedDiscussion
- Mar 17, 2026
- Adolescent Psychiatry
- Mohit Kapoor + 4 more +4
Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder. It is characterized by the development of multiple benign tumours - neurofibromas and areas of abnormal skin pigmentation. Focal Areas of Signal Intensity (FASI), also known as Unidentified Bright Objects (UBO), are seen in 60-70% of pediatric NF-1 cases on MRI brain imaging. Approximately 80% of the children with NF-1 show behavioral and cognitive disabilities. Case Presentation: We present a case of an eleven-year-old female with a history of global developmental delay and learning disabilities. The patient showed cutaneous stigmata of NF-1 with associated cognitive impairment and mild intellectual disability. Neurological examination revealed cognitive impairment with a Montreal Cognitive Assessment score of 15/30. Neuropsychological assessment suggested an intelligence quotient of 63, favouring mild intellectual disability. MRI brain revealed Focal altered signal intensity (FASI) in bilateral globus pallidi, thalami, dorsal midbrain, and right middle cerebellar peduncle. There was decreased perfusion in these areas on arterial spin labelling (ASL) with increased choline peak on MRS (Spectroscopy). Furthermore, we discuss the imaging features of FASI on conventional and advanced (MRS & ASL) sequences, differential diagnosis, and present a literature review as to how these brain changes might relate to cognitive problems in NF-1. Conclusion: FASI is a common neuroimaging manifestation of NF-1. Clinical presentation and MR spectroscopy play an important role in the diagnosis of FASI in cases of uncertainty. The presence of FASI in the cerebellum/brainstem and thalamus should prompt early neuropsychological assessment and support.
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