Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants

TY - JOUR

T1 - Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants

AU - Harahsheh, Ehab Y.

AU - Merritt, Erin

AU - Tejon, Judy B.

AU - Olarewaju, Bukola A.

AU - Asif, Misha B.

AU - Babovic-Vuksanovic, Dusica

AU - Osundiji, Mayowa A.

N1 - Publisher Copyright: © 2026 Authors. Published in partnership by the American College of Physicians and American Heart Association.

PY - 2026/2

Y1 - 2026/2

N2 - Neurofibromatosis 1 (NF1) is one of the most common genetic diseases of the central nervous system. The nature of intracranial lesions that are associated with NF1 are yet to be fully defined. Arachnoid, velum interpositum, and odontogenic cysts are among the more common intracranial cystic lesions that can be congenital. Although odontogenic cysts are well known to be associated with Gorlin–Goltz syndrome, the possibilities of other genetic disorders in patients with odontogenic and other intracranial cystic lesions have continued to stir research interests. Here, we report 2 cases of unrelated patients, each patient having concurrent intracranial cystic lesions in the setting of a diagnosis of NF1. Individual I had concomitant arachnoid and odontogenic cysts in parallel with a novel heterozygous germline NF1 pathogenic frameshift variant, NF1 [NM_000267.3] c.40del (p.Val14Serfs∗ 10). Individual II had concomitant arachnoid and vellum interpositum cysts in the context of a heterozygous likely pathogenic NF1 germline variant [NF1 (NM_000267.3) c.4265C>T, p.(Ser1422Leu)]. Our observations suggest that clinicians should consider NF1 among the differential diagnosis for intracranial cystic lesions such as arachnoid, vellum interpositum, and odontogenic cysts.

AB - Neurofibromatosis 1 (NF1) is one of the most common genetic diseases of the central nervous system. The nature of intracranial lesions that are associated with NF1 are yet to be fully defined. Arachnoid, velum interpositum, and odontogenic cysts are among the more common intracranial cystic lesions that can be congenital. Although odontogenic cysts are well known to be associated with Gorlin–Goltz syndrome, the possibilities of other genetic disorders in patients with odontogenic and other intracranial cystic lesions have continued to stir research interests. Here, we report 2 cases of unrelated patients, each patient having concurrent intracranial cystic lesions in the setting of a diagnosis of NF1. Individual I had concomitant arachnoid and odontogenic cysts in parallel with a novel heterozygous germline NF1 pathogenic frameshift variant, NF1 [NM_000267.3] c.40del (p.Val14Serfs∗ 10). Individual II had concomitant arachnoid and vellum interpositum cysts in the context of a heterozygous likely pathogenic NF1 germline variant [NF1 (NM_000267.3) c.4265C>T, p.(Ser1422Leu)]. Our observations suggest that clinicians should consider NF1 among the differential diagnosis for intracranial cystic lesions such as arachnoid, vellum interpositum, and odontogenic cysts.

KW - ADHD

KW - Arachnoid

KW - Cyst

KW - Cysts

KW - Diagnostic medicine

KW - Differential diagnosis

KW - Genetic diseases

KW - Genetic testing

KW - Genetics

KW - Genomics

KW - Intracranial

KW - Lesions

KW - NF1

KW - Odontogenic

KW - Pathogenesis

UR - https://www.scopus.com/pages/publications/105031827329

U2 - 10.7326/aimcc.2025.0802

DO - 10.7326/aimcc.2025.0802

M3 - Article

C2 - 41696550

AN - SCOPUS:105031827329

VL - 5

JO - Annals of Internal Medicine Clinical Cases

JF - Annals of Internal Medicine Clinical Cases

IS - 2

M1 - e250802

ER -