Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome

American Journal of Neuroradiology

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FIG 1.
PTA in CHARGE syndrome, medial variant. Axial T2WI (A and B), sagittal T2WI (C), axial CT (D), and MRA transverse (E) and lateral (F) views in a neonate demonstrate a PTA (long arrows) connecting the intracavernous ICA to the basilar artery. Note the bilateral ocular colobomas (arrowheads), absent semicircular canals, and clival cleft (arrow in D).
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FIG 2.
PTA in CHARGE syndrome, lateral variant. Standard 5-mm brain axial T2WI (A) and thin-section submillimetric T2WI (B and C) show a lateral-type PTA (long arrows), bilateral coloboma (arrowheads), and aplasia of the semicircular canals. The PTA is less clearly evident on the standard brain T2WI (A) compared with the thin-section images (B and C). Note the hypoplastic basilar artery below the PTA.

Prevalence of PTA versus other CHARGE clinical criteria and of the PTA in cases in which the clinical criterion was absent

Clinical Criterion	Prevalence in Literature^12,25	Prevalence in Our Study (95% CIs)	Prevalence of PTA When the Clinical Criterion Was Absent
PTA		56%, 14/25 (95% CI, 0.35–0.76)
Coloboma	75%–90%	64%, 16/25 (95% CI, 0.42–0.82)	55%, 5/9 (95% CI, 0.21–0.86)
Choanal atresia	35%–65%	40%, 10/25 (95% CI, 0.21–0.61)	53%, 8/15 (95% CI, 0.27–0.79)
CHARGE ear	95%–100%	100%, 25/25 (95% CI, 0.86–1)
Cranial nerve dysfunction	40–>95%	100%, 25/25 (95% CI, 0.86–1)
Cardiovascular anomalies	50%–85%	72%, 18/25 (95% CI, 0.51–0.88)	57%, 4/7 (95% CI, 0.18–0.9)
Gonadal/genitourinary anomalies	50%–70%	40%, 10/25 (95% CI, 0.21–0.61)	67%, 10/15 (95% CI, 0.21–0.61)
Clefting, orofacial/larynx	15%–20%	32%, 8/25 (95% CI, 0.15–0.53)	65%, 11/17 (95% CI, 0.38–0.86)
Growth deficiency/developmental delay	70–>90%	100%, 25/25 (95% CI, 0.86–1)
Tracheoesophageal fistula/anomalies	15%–20%	8%, 2/25 (95% CI, 0.01–0.26)	56%, 13/23 (95% CI, 0.34–0.77)