The purpose of this case report is to alert the reader to a rare differential diagnosis for infra- as well as intradiaphragmatic lung sequestration. A 38-year-old G2P0010 pregnant patient was referred for fetal magnetic resonance imaging (MRI) due to a 14.2 x 20.2 x 18 mm left paraspinal hyperechogenic mass with no internal vascularity and no convincing systemic arterial feeding vessel concerning for neuroblastoma as seen by ultrasound (US) performed at 34 weeks. Fetal MRI performed the same week showed a homogeneous T2-hyperintense left paraspinal mass in close apposition to and associated with a small area of loss of continuity in the diaphragm. This has been previously reported by postnatal computerized tomography as the "split diaphragm" sign in a case of intradiaphragmatic lung sequestration (Meier AH, Eggli KD, Cillei RE. Intradiaphragmatic extralobar sequestration: a rare pulmonary anomaly. Pediatr Surg 200;44:e27-29). Thus, the differential diagnosis provided at the time was congenital intradiaphragmatic sequestration and neuroblastoma. The fetus delivered via uncomplicated spontaneous vaginal delivery at term. Postnatal US performed at the age of 15 days showed a left hyperechogenic mass extending from the left lower chest to the ipsilateral retroperitoneum through a small defect in the diaphragm, favored to represent an extrapulmonary lung sequestration. The left adrenal gland was normal. A follow-up CT performed at 7 months of age showed a 2.6 cm left paraspinal mass with no systemic arterial blood supply to support the diagnosis of sequestration. The differential diagnosis at the time included neurogenic tumor or a myofibroma arising from the diaphragm. Follow-up CT at 13 months of age showed similar findings. The patient underwent uneventful laparoscopic removal of the mass with a final pathological diagnosis of congenital adrenal rest. Congenital adrenal rest presenting as a diaphragmatic mass is rare and as been reported once in an adult patient with an adenoma in heterotopic adrenal tissue located in the left diaphragm, diganosed because of mass effect in the gastric fundus during an uper gastrointestinal series (Keirns MM. Two unusual tumors of the diaphragm. Radiology 1952; 52:542-547). We hope this report raises awareness of this entity as a potential differential diagnosis for prenatal masses seen in close relationship with the adrenal gland and/or diaphragm. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Goncalves Luis, Jamshidi Ramin, Biyyam Deepa, Patel Mittun, Cornejo Patricia

Keywords: lung sequestration, neuroblastoma, adrenal rest

Kagami-Ogata syndrome (KOS) is a rare and potentially underdiagnosed imprinting disorder caused by paternal uniparental disomy for chromosome 14 or microdeletions and epimutations involving differentially methylated regions (DMRs) at 14q32.2. Depending on phenotypic expression, KOS may mimic trisomy 18 and asphyxiating thoracic dysplasia. Therefore, awareness is essential for prenatal diagnosis. Coat hanger ribs as seen by x-rays have been reported as s pathognomonic sign but have not been reported prenatally. Herein we present images of the coat hanger ribs as seen by low-dose computerized tomography (CT) as well as detailed imaging of the multiple phenotypic features by ultrasound and MRI of KOS in two cases seen prenatally. Case 1: G1P0 singleton pregnancy had fetal echocardiogram at 25 weeks due to concern for congenital heart disease, thickened nuchal fold and thickened skin of the thoracic wall. The exam showed left superior vena cava draining to coronary sinus, dilated right atrium and right ventricle, total anomalous pulmonary venous return, and hydrops. Skin edema was redemonstrated by follow up US at 29 weeks. Fetal MRI and follow-up US at 32 weeks showed polyhydramnios, diffuse skin edema, prominent cheeks and frontal bossing by 3D US, mild shortening of the ulna and right clubfoot, and a bell-shaped thorax by MRI. Chromosomal microarray was positive for terminal deletion of 14q32.2, consistent with KOS. Coat hanger ribs were present on postnatal x-rays. The patient is G-tube and tracheostomy tube dependent, has global developmental delay, neuromuscular scoliosis, left hip subluxation, wrist contractures and planovalgus feet at the age of 2 ½ years. Case 2: G3P1, singleton pregnancy with negative non-invasive prenatal testing (NIPT). US performed at 29 weeks showed polyhydramnios, clenched hands, and bell-shaped small thorax. Multimodality fetal imagin (US, MRI and CT) at 32 weeks showed a narrowed elongated thorax by US and MRI but ribs were poorly visualized. Additional anomalies included polyhydramnios, rhizomelic bone shortening, clenched hands, and prominent cheeks by 3D US. Low-dose CT showed coat hanger ribs. Postnatal x-rays confirmed coat hanger ribs and other abnormalities. Postnatal genetic testing showed paternal uniparental disomy for chromosome 14, consistent with KOS. The patient has restrictive lung disease due to hypoplastic thoracic cage, hypotonia, scoliosis, developmental delay, and umbilical hernia at 13 months. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Goncalves Luis, Patel Mittun, Wermers Josh, Simmons Curtis, Vaughn Jennifer, Pfeifer Cory, Cornejo Patricia

Keywords: kagami-ogata, fetal MRI, fetal CT