Although head ultrasound (HUS) is most often used in the neonatal intensive care unit (NICU) setting as a screening exam for emergencies such as hydrocephalus, intracranial hemorrhage, and ischemic injury, a spectrum of congenital brain abnormalities may also be diagnosed, especially with state-of-the-art US technology that enables detection of more subtle malformations. While brain MRI remains the gold standard for comprehensive evaluation of congenital CNS anomalies, knowledge of the appearance of such pathologies on HUS is vital: HUS is often the first exam performed, and some infants are too critically ill to undergo MRI. Identification of congenital anomalies by the radiologist may generate prognostic information that can impact critical medical decision-making and patient/family counseling in the NICU. The goals of this educational poster are to provide a systematic approach to evaluating congenital brain anomalies on HUS and illustrate the ultrasound appearance of common and less common congenital abnormalities with MRI comparisons, as well as highlight potential pitfalls in making these diagnoses. Covered entities include: Posterior fossa malformations: e.g., Chiari II, Dandy-Walker Midline anomalies: e.g., Holoprosencencephaly, agenesis of the corpus callosum, pericallosal lipoma Cortical malformations: e.g., Gray matter heterotopia, schizencephaly, lissencephaly Vascular malformations: e.g., Vein of Galen malformation Congenital infections: e.g., Congenital cytomegalovirus Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Snyder Elizabeth, Sarma Asha, Krishnasarma Rekha, Engelstad Holly, Pruthi Sumit

Keywords: Head ultrasound, Congenital anomalies, Ultrasound MRI correlation

Duplication of the pituitary gland (DPG) is an extremely rare malformation, with only 40 reported cases in the medical literature. Phenotypes range from isolated DPG with normal development to cases with additional anomalies leading to morbidity and mortality (“DPG-plus” syndrome). We describe a patient with comprehensive fetal and postnatal imaging detailing known findings of DPG-plus syndrome and previously undescribed brain and body anomalies. An infant male was diagnosed with an obstructive oral cavity mass by fetal MRI. Postnatal neuroimaging showed a fatty oral cavity mass containing dysmorphic mandibular elements. Upon biopsy, pathological assessment showed duplication of the maxillary complex versus mesenchymal hamartoma. Other anomalies included duplicated nasal cavity, absent olfactory bulbs, duplicated sella with sellar spine, optic chiasm and tubomamillary fusion, duplicated basilar artery, persistent falcine sinus, cleft palate, and bifid tongue. In addition, there was an unusual complex brainstem and cerebellar anomaly and extensive anterior cervical vertebral clefting with anterior cervicomedullary junction myelomeningocele. Body imaging showed horseshoe pulmonary sequestration, hiatal hernia, multiple intrathoracic and intraabdominal spleens in a manner inconsistent with heterotaxy, midline liver, duplicated IVC, and vertebral anomalies. Echocardiogram showed double outlet right ventricle. Genetics evaluation revealed variants of unknown significance in CCDC39, TBX5, and ZMYND10 that were considered unlikely to be related to the observed anomalies. Due to poor neurologic prognosis, the patient was transitioned to comfort care and passed away at 4 weeks of age. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Sarma Asha, Knake Lindsey, Whigham Amy, Hernanz-schulman Marta, Anani Uchenna, Pruthi Sumit

Keywords: Duplicated pituitary gland plus, Syndrome