Congenital syphilis (CS) results from transplacental or intrapartum infection by the spirochete bacterium Treponema pallidum. After a nadir in 2005, its incidence has been rising since 2013, currently affecting 48.5 infants per 100,000 live births; this represents a nearly 300% increase since 2015. However, CS remains infrequent, and may not receive appropriate consideration in the differential diagnosis. We report such a case in which the differential diagnosis was not initially entertained. Recognition of the imaging findings of this congenital infection by the pediatric radiologist can be critical in the timely management of this condition. Case: A 4-month old boy had wrist swelling noted by his grandmother who took him to the local ED where he was found to have a right distal radial fracture. The infant was transferred to our tertiary referral pediatric institution with concern for non-accidental trauma. Skeletal survey at our institution demonstrated multiple variable-shaped and sized lytic lesions in bilateral femurs, tibias, right fibula, bilateral humeri, radii, ulnas, right scapula and multiple vertebrae. Suggested differential diagnosis included metastatic disease, LCH, leukemia or infantile myofibromatosis, which prompted oncological evalution. CS was added late to the differential diagnosis. Further questioning then revealed that patient's mother had had syphilis during pregnancy with unknown treatment history. Further physical examination revealed multiple skin lesions and mucosal ulcers, rash, and blisters. Patient's treponemal Ig G was positive and he was treated with penicillin with RPR(Rapid Plasma Reagin) titer follow-up. CS has a high fetal or perinatal mortality rate approaching 40%. However, most live infected newborns are asymptomatic. The common clinical presentation includes fever, rash, rhinitis, hepatosplenomegaly, anemia, jaundice and elevated liver enzymes. The common skeletal findings include periosteal reaction, metaphyseal lucent bands, widespread metaphyseal erosions; particularly characteristic (although not specific) is the Wimberger sign, which irefers to the bilateral destruction of the proximal medial tibial metaphyses with sparing of a few medial millimeters (Laval-Jeantet collar). Differential diagnosis of CS includes osteomyelitis, neuroblastoma/metastases, leukemia, infantile fibromatosis, NAT. Characteristic radiographic and clinical lesions will be presented with discussion of differential diagnoses. Read More

Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022

Authors: Huang Jennifer, Hernanz-schulman Marta, Luo Yu

Keywords: syphilis, Congenital

Gastric teratomas are exceedingly rare tumors derived from one or more germ layers. These tumors predominantly occur in sacrococcygeal-gonadal locations but can occasionally manifest in midline regions such as the mediastinum, retroperitoneum, and the head/neck. Case Presentation: A 1-day-old male infant, born at 36 weeks and 4 days via a cesarean section due to multiple fetal anomalies, including large for gestational age (LGA), new-onset polyhydramnios and significant bilateral hydroceles, presented with a significantly distended and firm abdomen. The initial X-ray revealed extensive amorphous calcifications throughout the abdomen, suggestive of meconium peritonitis. However, a subsequent ultrasound examination revealed a large heterogeneous mass in the upper and mid abdomen, characterized by calcifications, cysts, and soft tissue components. In retrospect, the large mass was detected on the prenatal sonographic exam but misinterpreted as echogenic bowel loops. A subsequent CT scan unveiled a 13.4 x 7.6 x 9.9 cm mass originating from the gastric wall, extending into the gastric lumen as well as the peritoneal cavity. Interestingly, endoscopy revealed a normal mucosa covering the mass. The tumor was resected, including partial gastrectomy, and histology confirmed the presence of native gastric mucosa and an underlying mass composed of endodermal, ectodermal, and mesodermal tissues, consistent with mature teratomas. This case report presents a large mature teratoma within the gastric wall, exhibiting exophytic and endoluminal growth, which led to polyhydramnios, abdominal distention, and the development of large hydroceles in the newborn, feeding difficulty. Additionally, it emphasizes the importance of thorough prenatal and postnatal imaging evaluations for timely diagnosis and management. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Wang Megan, Snyder Elizabeth, Schulman Marta, Luo Yu

Keywords: Gastric teratoma, computed tomography

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