ABSTRACT
The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.
Subject(s)
Carotid Artery, Internal/abnormalities , Developmental Disabilities/genetics , Ear, Inner/abnormalities , Homeodomain Proteins/genetics , Ocular Motility Disorders/genetics , Transcription Factors/genetics , Brain Stem/abnormalities , Brain Stem/pathology , Carotid Artery, Internal/pathology , Child, Preschool , Developmental Disabilities/pathology , Ear, Inner/pathology , Female , Hearing Loss, Sensorineural , Humans , Indians, North American , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Nervous System Malformations/genetics , Nervous System Malformations/pathology , Ocular Motility Disorders/pathologyABSTRACT
BACKGROUND AND PURPOSE: Rapid brain MR imaging is often substituted for head CT in multiply imaged patients with shunted hydrocephalus. Fast TSE-T2 sequences are commonly used in these protocols. One limitation of TSE-T2 sequences is the decreased catheter delineation compared with CT. The aim of this study was to compare fast TSE-T2 with rapid SS-GRE sequences in the evaluation of intracranial shunt catheter delineation as part of a rapid nonsedated pediatric brain MR imaging protocol. MATERIALS AND METHODS: We evaluated the findings from 179 consecutive patients who underwent routine clinical imaging according to the rapid nonsedated pediatric brain MR imaging protocol. Comparison of the quality of intracranial shunt catheter localization on SS-GRE versus TSE-T2 was performed. RESULTS: Of the total of 179 rapid nonsedated pediatric brain MR images that were reviewed, 62 (35%) had an intracranial shunt catheter. The shunt catheter tip was better localized on the SS-GRE than on the TSE-T2 images in 49/62 (79%) of these patients. Of the remaining 13/62 (21%), the TSE-T2 was either better or equivalent in localizing the shunt catheter tip. CONCLUSIONS: Our study shows that rapid SS-GRE sequences can provide better delineation of standard intracranial shunt catheters than standard rapid MR imaging protocols containing only fast TSE-T2 sequences.
