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Pol III-related leukodystrophies are caused by mutations in POLR3A and POLR3B genes and all share peculiar imaging and clinical features. The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the neuroradiologic pattern of Pol III-related leukodystrophies with other(More)
OBJECTIVE This study aims to evaluate individual regional brain biometrics and their association with developmental outcome in extremely low-birth-weight (ELBW) infants. STUDY DESIGN This is a retrospective study evaluating term-equivalent magnetic resonance imaging (TE-MRI) from 27 ELBW infants with known developmental outcomes beyond 12 months corrected(More)
OBJECTIVE Previous meta-analysis has demonstrated that the most important factor in seizure freedom following surgery for focal cortical dysplasia (FCD) is completeness of resection. However, intraoperative detection of epileptogenic dysplastic cortical tissue remains a challenge, potentially leading to a partial resection and the need for reoperation. The(More)
A previously healthy 10-year-old female reported a 1-month history of wheezing and hemoptysis. Initial evaluation and treatment were focused on refractory reactive airway disease and infectious etiologies prompted by her recent travels in Africa. Worsening respiratory distress prompted emergent evaluation with imaging and endoscopy. Bronchoscopy diagnosed a(More)
The majority of lipids in the brain are located in the bilayer membranes. These lipids are not visible by magnetic resonance spectroscopy since they have restricted mobility. Only mobile lipids, such as cholesterol esters or triglycerides in neutral lipid droplets, have enough rotational freedom to generate a signal on spectroscopy. These signals are(More)
OBJECTIVES/HYPOTHESIS We describe management of an infant with chronic aspiration as a result of severe and rarely described laryngeal dysgenesis. RESULTS A neonate with severe maldevelopment of the laryngeal structures required tracheostomy for respiratory distress on day-of-life 1, but the patient continued to have aspiration pneumonias. After failing(More)
Arterial ischemic strokes (AIS) localized solely to the midbrain are extremely uncommon in the pediatric population. Elevated lipoprotein (a), which promotes atherosclerosis and a prothrombotic state, has been associated with increased risk of AIS in children and adults. Here we describe a 17-year-old boy and a 15-year-old girl who presented with(More)
OBJECTIVE To evaluate the clinical impact of routine term-equivalent magnetic resonance imaging (TE-MRI) for extremely low-birth-weight infants at a regional neonatal intensive care unit. STUDY DESIGN This is a single-center retrospective study evaluating preterm survivors who underwent TE-MRI. MRI abnormalities were compared between infants with and(More)