Ages ranged from 2 days to 22 years (median = 1 month), with 12 neonates (0–1 months), 5 infants (1–12 months), and 8 older children/adults (1–22 years). Twenty-five patients (male = 16 female = 9) with a diagnosis of CHARGE syndrome were included in the study. Patient Characteristics and Diagnostic Criteria for CHARGE Hypoplasia of the basilar artery below the level of the PTA and the presence, absence or hypoplasia of the posterior communicating artery (PcomA) (when an MRA sequence was available) were also recorded. When present, the PTA was subclassified as either medial or lateral, depending on its origin from the medial or lateral surface of the ICA and/or a course relative to the abducens nerve or lateral border of the dorsum sellae. The presence of a PTA was recorded if a vessel was seen connecting the intracavernous ICA to the basilar artery. with 18 years' consultant/senior experience), and agreement was reached by consensus. with 13 years' consultant/senior experience and S.E.J.C. Imaging was reviewed by 2 experienced neuroradiologists (A.S. Time-of-flight MR angiography was acquired in 6/25, including in 2 patients who did not have thin-section T2WI. 20/25 patients also had additional thin-section (1- to 1.4-mm section thickness) heavily T2WI through the posterior fossa. Axial T2WI was available for all patients (4- to 5-mm section thickness on 1.5T and 2-mm thickness on 3T). Most 1.5T MR imaging studies were performed on a single scanner, an Achieva 1.5T (Philips Healthcare), while the other studies were performed on a 3T Achieva scanner (Philips Healthcare). Imaging was performed on both 1.5 ( n = 21) and 3T ( n = 6) MR imaging systems from the same manufacturer (Philips Healthcare), with 2 patients having undergone scanning on both systems. Hence, our primary objective was to determine the prevalence of the PTA on MR imaging in patients with CHARGE syndrome, and our secondary objective was to compare the prevalence of the PTA with that of other diagnostic criteria. Because we had observed the PTA on MR imaging studies in patients with CHARGE syndrome, our hypothesis was that the PTA would have a high prevalence in CHARGE syndrome and would represent a useful diagnostic criterion. Because it is rarely reported in the healthy population, with a prevalence of 0.4%, 6 and is easily recognized on MR imaging, it would constitute a potentially useful syndromic association. The persistent trigeminal artery (PTA) is an embryonic carotid-vertebral anastomosis that is normally transiently seen in early fetal life. They now include the 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), olfactory hypoplasia, and/or arhinencephaly and rhombencephalic dysfunctions, which are now considered the most important and constant clues to the diagnosis. While the acronym CHARGE was based on the cardinal features identified when the syndrome was initially described, the clinical diagnostic criteria have since evolved. ABBREVIATIONS: CHARGE 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 CHD7 Chromodomain Helicase DNA-binding protein PcomA posterior communicating artery PHACE Posterior fossa/brain malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta, and Cardiac anomalies and Eye abnormalities PTA persistent trigeminal arteryĬoloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a rare, usually sporadic, autosomal dominant disorder caused by heterozygous mutations in the chromodomian helicase DNA binding protein 7 ( CHD7) gene in most cases.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |