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Articles by Schaefer CM
Choroid Plexus Papilloma
Neuro ImagingPediatric ImagingPediatric Imaging PortalCase StudySupplements May 07, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Ballur KN, Towbin RB, Schaefer CM, Morgan D, Towbin AJ Case Summary An infant presented with increased head circumference, a bulging anterior fontanelle, and a two-day history of downward gaze.
Ebstein Anomaly • APPLIED RADIOLOGY
Cardiac ImagingPediatric ImagingPediatric Imaging PortalSupplementsCase Study May 07, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Sanders MA, Towbin RB, Schaefer CM, Towbin AJ Case Summary A pregnant patient with a previous infant with Ebstein anomaly (EA) and Trisomy 21 underwent a fetal echocardiogram. The current fetus’s echocardiogram at 25 weeks’ gestation demonstrated apical displacement of the tricuspid valve and a hypoplastic right ventricle.
Congenital High Airway Obstruction Syndrome
Cardiopulmonary ImagingPediatric ImagingPediatric Imaging PortalCase StudySupplements May 07, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Rehman N, Towbin RB, Schaefer CM, Towbin AJ Case Summary A screening obstetrical ultrasound performed at 29 weeks’ gestation demonstrated polyhydramnios with an amniotic fluid index (AFI) of 27.1cm (normal 10.5-18.9). Several abnormalities were present in the fetus, including shortened long bones, mesocardia with enlarged lungs, and massive ascites.
Kawasaki Disease
Cardiac ImagingPediatric ImagingPediatric Imaging PortalCase StudySupplements May 07, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Porter KB, Towbin RB, Morgan D, Moore RA, Schaefer CM, Towbin AJ Case Summary An adolescent presented for follow up of aneurysms of the right coronary artery (RCA) and left anterior descending coronary artery (LAD).
Sternoclavicular Physeal Separation
MSK ImagingPediatric ImagingPediatric Imaging PortalCase StudySupplements May 07, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Nonyelu KN, Towbin RB, Schaefer CM, Morgan D, Towbin AJ Case Summary A teenager presented with a brief history of right neck and trapezius pain after colliding with a classmate. On physical examination, the right sternoclavicular joint was tender to palpation and the right sternoclavicular joint was slightly depressed compared with the left side.
Median Arcuate Ligament Syndrome
GastrointestinalPediatric ImagingPediatric Imaging PortalSupplementsCase Study May 07, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Theis J, Schaefer CM, Towbin AJ, Towbin RB Case Summary An adolescent with a two-year history of abdominal pain and vomiting after meals presented with diffuse abdominal tenderness on palpation.
Craniofacial Fibrous Dysplasia
Case Summary A young teenager presented with concerns of decreased vision in the right eye. The patient was noted to have right-sided diplopia and facial asymmetry. Ophthalmologic examination showed right optic nerve pallor and constricted visual field with preserved vision nasally and a dense right afferent pupillary defect.
Alobar Holoprosencephaly
SHARE FacebookTwitterCopy UrlEmail Copy By Tapia A, Towbin RB, Schaefer CM, Towbin AJ Case Summary A routine obstetrical ultrasound detected multiple fetal brain and facial anomalies, as well as macrosomia, macrocephaly, and polyhydramnios, prompting further evaluation. Subsequent fetal MRI demonstrated severe brain and facial developmental abnormalities. A fetal echocardiogram was normal. A liveborn infant was delivered via scheduled C-section.
Retroperitoneal Paraganglioma
SupplementsPediatric ImagingPediatric Imaging Portal Mar 05, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Gubler JT, Towbin R, Schaefer CM, Towbin AJ Case Summary A heathy teenager presented with left flank pain and dizziness after a collision with another player during a sporting event. Physical examination revealed diffuse left flank tenderness without ecchymosis. Vital signs were stable, with a blood pressure of 113/65 and heart rate of 66 bpm. Hemoglobin and hematocrit were normal.
Retroperitoneal Paraganglioma
SHARE FacebookTwitterCopy UrlEmail Copy By Gubler JT, Towbin R, Schaefer CM, Towbin AJ Case Summary A heathy teenager presented with left flank pain and dizziness after a collision with another player during a sporting event. Physical examination revealed diffuse left flank tenderness without ecchymosis. Vital signs were stable, with a blood pressure of 113/65 and heart rate of 66 bpm. Hemoglobin and hematocrit were normal.
Ewing Sarcoma • APPLIED RADIOLOGY
SupplementsPediatric ImagingPediatric Imaging Portal Mar 05, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Kadevari P, Towbin RB, Schaefer CM, Towbin AJ Case Summary A teenager presented with a three-week history of right-sided headaches, double vision, intermittent somnolence, and left lower extremity stinging pain and weakness. Additionally, there was left lower extremity weakness on physical examination. The initial imaging included MRI of the brain and spine.
Acute Wallerian Degeneration
SupplementsPediatric ImagingPediatric Imaging Portal Mar 05, 2024 SHARE FacebookTwitterCopy UrlEmail Copy By Llanes AC, Towbin RB, Schaefer CM, Towbin AJ Case Summary A term infant was born via emergency cesarean for fetal bradycardia. The neonate had Apgar scores of 0, 3, and 3 at 1, 5, and 10 minutes of age, respectively. Arterial umbilical cord gas showed a markedly low pH (6.510) and metabolic acidosis (base deficit 30.7) and the child was resuscitated.
Acute Wallerian Degeneration
SHARE FacebookTwitterCopy UrlEmail Copy By Llanes AC, Towbin RB, Schaefer CM, Towbin AJ Case Summary A term infant was born via emergency cesarean for fetal bradycardia. The neonate had Apgar scores of 0, 3, and 3 at 1, 5, and 10 minutes of age, respectively. Arterial umbilical cord gas showed a markedly low pH (6.510) and metabolic acidosis (base deficit 30.7) and the child was resuscitated. Physical examination revealed extreme hypotonia. The child was placed on a total body cooling protocol.
Neonatal Adrenal Hemorrhage
Case Summary A newborn with tracheoesophageal fistula, imperforate anus, and tethered cord underwent abdominal ultrasound to evaluate the solid organs for further anomalies. Imaging Findings Ultrasound (Figure 1) showed a 1.2 cm asymptomatic hypoechoic mass within the right adrenal gland. The lesion had no internal color Doppler flow, and it was not present on earlier ultrasound. It decreased in size on subsequent ultrasound (Figure 2) before later resolving.
Embryonal Rhabdomyosarcoma of the Bladder
SHARE FacebookTwitterCopy UrlEmail Copy By Zhu R, Towbin RB, Schaefer CM, Towbin AJ Case Summary A male toddler presented with recent onset of straining during voiding and bowel movements. Ultrasound detected a large mass in the bladder lumen. Ultrasound-guided biopsy revealed an embryonal rhabdomyosarcoma (RMS) of the bladder and prostate. There was no evidence of metastases. The tumor was classified as stage III, group II.
Hereditary Hemorrhagic Telangiectasia
SHARE FacebookTwitterLinkedInCopy UrlEmail By Rehman N; Towbin RB, Schaefer CM, Towbin AJ Case Summary A teenager had a history of a right temporal lobe stroke. Subsequent bubble echocardiogram was suspicious for a pulmonary arteriovenous malformation (AVM). The patient’s parent and parent’s sibling had a history of recurrent epistaxis; the parent also had a prior ruptured brain AVM.
Congenital Pulmonary Airway Malformation
Pediatric ImagingCardiopulmonary ImagingCase Study Sep 12, 2023 SHARE FacebookTwitterLinkedInCopy UrlEmail By Li E, Towbin RB, Schaefer CM, Towbin AJ Case Summary A pregnant patient presented at 35 weeks ’ gestation for further evaluation of a previously diagnosed fetal congenital pulmonary airway malformation (CPAM). The baby was asymptomatic at near-term delivery and discharged home. At 9 months of age a left-sided thoracoscopy and left lower lobectomy for resection of the CPAM was performed.
Macrocystic Lymphatic Malformation
Case Summary An infant presented with a large right-sided chest wall, axillary, and neck lymphatic malformation (LM), diagnosed prenatally. The patient had limited right upper extremity motion because of the large right chest wall and axillary mass. Imaging Findings Chest radiograph (Figure 1) shows a soft-tissue mass involving the right neck and upper extremity.
Interventions for Spinal Muscular Atrophy
Case Summary An adult with type 1 spinal muscular atrophy, with initial onset of symptoms at 5 months of age, including delayed milestones and the inability to sit independently. The diagnosis was confirmed by genetic testing. The patient had limited motor skills and had difficulties with activities necessary for independent daily living. Additionally, the patient was ventilator dependent. Spinal fixation from C4-S1 was performed for severe levoscoliosis.
Duchenne Muscular Dystrophy
MSK ImagingMR Imaging PortalMRI & MRACase StudyPediatric ImagingPediatric Imaging Portal Mar 07, 2023 SHARE FacebookTwitterLinkedInCopy UrlEmail By Sanders MA, Towbin RB, Schaefer CM, Li Y, Towbin AJ Case Summary An adolescent with a known history of Duchenne muscular dystrophy (DMD) presented for a follow-up neurology evaluation after magnetic resonance imaging (MRI) to evaluate his musculature for fatty infiltration.
Duchenne Muscular Dystrophy
MSK ImagingMR Imaging PortalMRI & MRACase StudyPediatric ImagingPediatric Imaging Portal Mar 07, 2023 SHARE FacebookTwitterCopy UrlEmail Copy By Sanders MA, Towbin RB, Schaefer CM, Li Y, Towbin AJ Case Summary An adolescent with a known history of Duchenne muscular dystrophy (DMD) presented for a follow-up neurology evaluation after magnetic resonance imaging (MRI) to evaluate his musculature for fatty infiltration.
Parietal Lobe Infarction Secondary to Cortical Venous Thrombosis
Case Summary A term neonate presented 5 hours postnatally with 6 episodes of focal seizures characterized by right extremity jerking and staring lasting 2-5 minutes. The birth was complicated by gestational hypertension — prompting labor induction — a tight nuchal cord, and placental calcifications. Apgar scores at 5 minutes of life were normal, but some ventilatory support was provided for transient respiratory distress.
Metopic Suture Synostosis
Case Summary An otherwise healthy and developmentally normal infant presented with trigonocephaly with associated bi-temporal bulging and hypotelorism, first noted at birth. On examination, head circumference was 40.5 cm, which was > 99 percentile for age and gender.1No positional plagiocephaly was noted, and the anterior fontanelle was soft and flat.
Neuroblastoma, Stage MS
Pediatric ImagingPediatric Imaging PortalMRI & MRAUltrasoundCase Study Sep 01, 2022 SHARE FacebookTwitterCopy UrlEmail Copy By Bisht RU, Towbin RB, Schaefer CM, Tobwin AJ Case Summary An infant was born at 35 weeks’ gestation afterin uteroimaging revealed a possible cystic lung lesion. On the second day of life, an abdominal ultrasound had shown a 3.1 cm right suprarenal mass that was interpreted as an intraabdominal extra-lobar pulmonary sequestration.
Hydranencephaly • APPLIED RADIOLOGY
Case Summary A term newborn with an enlarged head and normal reflexes; brain anomaly was identified on prenatal ultrasound imaging. Image Findings A severe brain anomaly was diagnosed prenatally by ultrasound. Postnatal brain magnetic resonance imaging revealed near-complete absence of brain tissue above the tentorium, with only a small component of the right posterior parietal and bilateral occipital lobes present. The brainstem, cerebellum, and thalami were identified below the tentorium.
Telangiectatic Osteosarcoma
Case Summary An adolescent presented with dull, achy pain, swelling, and reduced range of motion of their left shoulder. Imaging Findings Radiographs of the shoulder demonstrated an expansile, transcortical, lucent lesion that involved the epiphysis, metaphysis, and much of the proximal diaphysis of the left humerus (Figure 1).
Paget-Schroetter Syndrome
Case Summary An adolescent volleyball player presented with intermittent right-arm numbness, and more than one month of worsening right upper extremity swelling. Imaging Findings Right upper-extremity digital subtraction venography (DSV) showed a completely occlusive deep venous thrombosis (DVT) of the entire right subclavian vein and a non-occlusive thrombus within the right axillary vein.
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