A Siddiqui1,2, P Touska3, D Josifova4, S E J Connor3,2,5. 1. From the Department of Radiology (A.S., P.T., S.E.J.C.), Guy's and St. Thomas' NHS Foundation Trust, London, UK ata.siddiqui@gstt.nhs.uk. 2. Department of Neuroradiology (A.S., S.E.J.C.), King's College Hospital NHS Foundation Trust, London, UK. 3. From the Department of Radiology (A.S., P.T., S.E.J.C.), Guy's and St. Thomas' NHS Foundation Trust, London, UK. 4. Department of Genetics (D.J.), Guy's and St. Thomas' NHS Foundation Trust, London, UK. 5. School of Biomedical Engineering and Imaging Sciences (S.E.J.C.), St. Thomas' Hospital, King's College, London, UK.
Abstract
BACKGROUND AND PURPOSE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, Ear abnormalities and deafness (CHARGE) syndrome is an autosomal dominant genetic disorder with evolving clinical diagnostic criteria. Recently, a number of additional anomalies have been described in this syndrome, which may aid in early diagnosis, particularly in incomplete phenotypes or atypical cases. The persistent trigeminal artery is an embryonic carotid-vertebral anastomosis, rarely seen in the healthy population, with a reported prevalence of 0.4%. Because we had observed the persistent trigeminal artery in patients with CHARGE syndrome, this study aimed to explore the prevalence of the persistent trigeminal artery in this syndrome. MATERIALS AND METHODS: A retrospective study was performed at our tertiary center. MR imaging studies, clinical records, and genetic results were reviewed for patients diagnosed with CHARGE syndrome between 2006 and 2019. The prevalence of the persistent trigeminal artery in patients with CHARGE syndrome was recorded and compared with other established diagnostic criteria. RESULTS: Twenty-five patients with CHARGE syndrome were included. The persistent trigeminal artery was demonstrated on MR imaging in 14/25 (56%) patients and was seen more frequently than 4 of 9 other established diagnostic criteria in our cohort. When individual major or minor diagnostic criteria were absent, the persistent trigeminal artery was still demonstrated on MR imaging in 52%-67% of these patients with CHARGE syndrome. CONCLUSIONS: The prevalence of the persistent trigeminal artery in CHARGE syndrome of 56% is higher than that of some other established diagnostic criteria and much higher than that in the general population. The persistent trigeminal artery may be a useful addition to the expanding phenotype of CHARGE syndrome, supplementing other diagnostic criteria. Radiologists should be aware of this novel finding demonstrable on MR imaging.
BACKGROUND AND PURPOSE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, Ear abnormalities and deafness (CHARGE) syndrome is an autosomal dominant genetic disorder with evolving clinical diagnostic criteria. Recently, a number of additional anomalies have been described in this syndrome, which may aid in early diagnosis, particularly in incomplete phenotypes or atypical cases. The persistent trigeminal artery is an embryonic carotid-vertebral anastomosis, rarely seen in the healthy population, with a reported prevalence of 0.4%. Because we had observed the persistent trigeminal artery in patients with CHARGE syndrome, this study aimed to explore the prevalence of the persistent trigeminal artery in this syndrome. MATERIALS AND METHODS: A retrospective study was performed at our tertiary center. MR imaging studies, clinical records, and genetic results were reviewed for patients diagnosed with CHARGE syndrome between 2006 and 2019. The prevalence of the persistent trigeminal artery in patients with CHARGE syndrome was recorded and compared with other established diagnostic criteria. RESULTS: Twenty-five patients with CHARGE syndrome were included. The persistent trigeminal artery was demonstrated on MR imaging in 14/25 (56%) patients and was seen more frequently than 4 of 9 other established diagnostic criteria in our cohort. When individual major or minor diagnostic criteria were absent, the persistent trigeminal artery was still demonstrated on MR imaging in 52%-67% of these patients with CHARGE syndrome. CONCLUSIONS: The prevalence of the persistent trigeminal artery in CHARGE syndrome of 56% is higher than that of some other established diagnostic criteria and much higher than that in the general population. The persistent trigeminal artery may be a useful addition to the expanding phenotype of CHARGE syndrome, supplementing other diagnostic criteria. Radiologists should be aware of this novel finding demonstrable on MR imaging.
Authors: Lisenka E L M Vissers; Conny M A van Ravenswaaij; Ronald Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A van der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman; Ad Geurts van Kessel Journal: Nat Genet Date: 2004-08-08 Impact factor: 38.330
Authors: A L Tellier; V Cormier-Daire; V Abadie; J Amiel; S Sigaudy; D Bonnet; P de Lonlay-Debeney; M P Morrisseau-Durand; P Hubert; J L Michel; D Jan; H Dollfus; C Baumann; P Labrune; D Lacombe; N Philip; M LeMerrer; M L Briard; A Munnich; S Lyonnet Journal: Am J Med Genet Date: 1998-04-13
Authors: Shervin R Dashti; Robert F Spetzler; Min S Park; Michael F Stiefel; Humain Baharvahdat; Cameron G McDougall Journal: Neurosurgery Date: 2010-07 Impact factor: 4.654