Feasibility of photon-counting CT for femoroacetabular impingement syndrome evaluation: lower radiation dose and improved diagnostic confidence.

OBJECTIVE: The feasibility of low-dose photon-counting detector (PCD) CT to measure alpha and acetabular version angles of femoroacetabular impingement (FAI). MATERIAL AND METHODS: FAI patients undergoing an energy-integrating detector (EID) CT underwent an IRB-approved prospective ultra-high-resolution (UHR) PCD-CT between 5/2021 and 12/2021. PCD-CT was dose-matched to the EID-CT or acquired at 50% dose. Simulated 50% dose EID-CT images were generated. Two radiologists evaluated randomized EID-CT and PCD-CT images and measured alpha and acetabular version angles on axial image slices. Image quality (noise, artifacts, and visualization of cortex) and confidence in non-FAI pathology were rated on a 4-point scale (3 = adequate). Preference tests of standard dose PCD-CT, 50% dose PCD-CT, and 50% dose EID-CT relative to standard dose EID-CT were performed using Wilcoxon Rank test. RESULTS: 20 patients underwent standard dose EID-CT (~ CTDIvol, 4.5 mGy); 10 patients, standard dose PCD-CT (4.0 mGy); 10 patients, 50% PCD-CT (2.6 mGy). Standard dose EID-CT images were scored as adequate for diagnostic task in all categories (range 2.8-3.0). Standard dose PCD-CT images scored higher than the reference in all categories (range 3.5-4, p < 0.0033). Half-dose PCD-CT images also scored higher for noise and cortex visualization (p < 0.0033) and equivalent for artifacts and visualization of non-FAI pathology. Finally, simulated 50% EID-CT images scored lower in all categories (range 1.8-2.4, p < 0.0033). CONCLUSIONS: Dose-matched PCD-CT is superior to EID-CT for alpha angle and acetabular version measurement in the work up of FAI. UHR-PCD-CT enables 50% radiation dose reduction compared to EID while remaining adequate for the imaging task.

Pilot study to determine whether reduced-dose photon-counting detector chest computed tomography can reliably display Brody II score imaging findings for children with cystic fibrosis at radiation doses that approximate radiographs.

BACKGROUND: The Brody II score uses chest CT to guide therapeutic changes in children with cystic fibrosis; however, patients and providers are often reticent to undergo chest CT given concerns about radiation. OBJECTIVE: We sought to determine the ability of a reduced-dose photon-counting detector (PCD) chest CT protocol to reproducibly display pulmonary disease severity using the Brody II score for children with cystic fibrosis (CF) scanned at radiation doses similar to those of a chest radiograph. MATERIALS AND METHODS: Pediatric patients with CF underwent non-contrast reduced-dose chest PCD-CT. Volumetric inspiratory and expiratory scans were obtained without sedation or anesthesia. Three pediatric radiologists with Certificates of Added Qualification scored each scan on an ordinal scale and assigned a Brody II score to grade bronchiectasis, peribronchial thickening, parenchymal opacity, air trapping and mucus plugging. We report image-quality metrics using descriptive statistics. To calculate inter-rater agreement for Brody II scoring, we used the Krippendorff alpha and intraclass correlation coefficient (ICC). RESULTS: Fifteen children with CF underwent reduced-dose PCD chest CT in both inspiration and expiration (mean age 8.9 years, range, 2.5-17.5 years; 4 girls). Mean volumetric CT dose index (CTDIvol) was 0.07 ± 0.03 mGy per scan. Mean effective dose was 0.12 ± 0.04 mSv for the total examination. All three readers graded spatial resolution and noise as interpretable on lung windows. The average Brody II score was 12.5 (range 4-19), with moderate inter-reader reliability (ICC of 0.61 [95% CI=0.27, 0.84]). Inter-rater reliability was moderate to substantial for bronchiectasis (0.52), peribronchial thickening (0.55), presence of opacity (0.62) and air trapping (0.70) and poor for mucus plugging (0.09). CONCLUSION: Reduced-dose PCD-CT permits diagnostic image quality and reproducible identification of Brody II scoring imaging findings at radiation doses similar to those for chest radiography.

Meckel diverticulum in the pediatric population: Patient presentation and performance of imaging in prospective diagnosis.

PURPOSE: To determine the most common presentations of Meckel diverticulum (MD) in children and the performance of imaging modalities in prospective diagnosis. MATERIALS AND METHODS: A 28-year retrospective review was performed of children under 18 years of age with MD listed as a diagnosis on pathology and/or surgical reports. The medical record was reviewed to determine presenting clinical scenarios. All imaging performed for each case was reviewed. RESULTS: Seventy-six patients met inclusion criteria. Of the surgically removed MD, most presented with abdominal symptoms (n = 31, 41%); gastrointestinal (GI) bleeding (n = 15, 20%), or both abdominal symptoms and GI bleeding (n = 7, 9%). Twenty-nine percent of MD were discovered incidentally at surgery performed for other reasons. Of the symptomatic MD, only 31% were prospectively diagnosed. For patients with abdominal symptoms, CT had a sensitivity of 13% (3/24) while nuclear medicine (NM) scan had a sensitivity of 0% (0/2). For patients with GI bleed, CT had a sensitivity of 29% (2/7) and NM scan had a sensitivity of 71% (10/14). For patients with both abdominal symptoms and GI bleed, CT was 0% (0/2) and NM scan 75% (3/4) sensitive. CONCLUSION: MD as a cause of abdominal symptoms and gastrointestinal bleeding may be difficult to diagnose due to nonspecific presentations and nonspecific findings. Most prospectively diagnosed MD are on NM scan in patients with GI bleed with abdominal pain (sensitivity of >70%). CT is relatively insensitive for MD in all symptomatology groups (0 to 29%).

SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.

Haploinsufficiency of suppressor of cytokine signaling 1 (SOCS1) is a recently discovered autoinflammatory disorder with significant rheumatologic, immunologic, and hematologic manifestations. Here we report a case of SOCS1 haploinsufficiency in a 5-year-old child with profound arthralgias and immune-mediated thrombocytopenia unmasked by SARS-CoV-2 infection. Her clinical manifestations were accompanied by excessive B cell activity, eosinophilia, and elevated IgE levels. Uniquely, this is the first report of SOCS1 haploinsufficiency in the setting of a chromosomal deletion resulting in complete loss of a single SOCS1 gene with additional clinical findings of bone marrow hypocellularity and radiologic evidence of severe enthesitis. Immunologic profiling showed a prominent interferon signature in the patient's peripheral blood mononuclear cells, which were also hypersensitive to stimulation by type I and type II interferons. The patient showed excellent clinical and functional laboratory response to tofacitinib, a Janus kinase inhibitor that disrupts interferon signaling. Our case highlights the need to utilize a multidisciplinary diagnostic approach and consider a comprehensive genetic evaluation for inborn errors of immunity in patients with an atypical immune-mediated thrombocytopenia phenotype.

A large congenital pancreatic cyst mimicking a macrocytic lymphatic malformation.

Congenital pancreatic cysts (CPCs) are rare developmental anomalies that arise in-utero from the pancreas. They are exceedingly rare in the literature, and most are discovered postnatally. Prenatal diagnosis is uncommon with only 21 published reports of prenatally diagnosed CPCs in the literature. CPCs may form unilocular or multilocular macrocysts which can distort normal anatomy. There is considerable overlap of imaging features with other macrocystic lesions of the neonatal abdomen. Ultrasound-guided biopsy and analysis of cyst aspirate for pancreatic enzymes may assist with obtaining an accurate preoperative diagnosis. We report a case of a 37-week gestational age female infant born with a known prenatal 9.5 cm macrocystic intrabdominal mass. An intrabdominal lymphatic malformation was initially diagnosed based on clinical and imaging features. Since conservative therapy with with cyst drainage and serial sclerotherapy was not effective, an ultrasound-guided biopsy was performed to rule out malignancy. Pancreatic tissue was identified on pathology. An exploratory laparotomy and total cystectomy was performed which confirmed the diagnosis of congenital pancreatic cyst originating from the pancreatic tail. This case highlights the diagnostic challenge of congenital pancreatic cysts and the importance of a multimodal and multidisciplinary diagnostic approach.

NUT carcinoma of the thorax in a 7-year-old child.

We present a rare case of NUT midline carcinoma of the thorax in a 7-year-old-male who presented with nonspecific abdominal pain. The patient was initially evaluated with an abdominal ultrasound, which was negative, followed by an abdominopelvic CT that demonstrated a partially visualized infiltrative mediastinal mass. Subsequent, chest CT showed a large, aggressive appearing heterogenous middle mediastinal mass with pulmonary parenchyma, hilar, and posterior mediastinal invasion. Given its epicenter in the middle mediastinum and its irregular and invasive appearance, the primary consideration was NUT midline carcinoma, subsequently confirmed on biopsy.

Congenital paraesophageal hernia with gastric outlet obstruction in a neonate with Cornelia de Lange Syndrome.

We describe a case of a newborn being treated for encephalopathy and seizures, whose radiographs since the first day of life demonstrate a persistent ovoid lucency over the central lower chest. A CT performed confirmed a type IV hiatal hernia, which is defined as a paraesophageal type hernia containing a portion of the abdominal viscera. This infant's hernia included the distal stomach, pylorus, and proximal duodenum. There was no volvulus or ischemic change at surgery. The patient underwent successful reduction, fundoplication, and gastrostomy placement with hospital discharge after further stabilization of additional medical problems. Genetic testing later confirmed Cornelia de Lange Syndrome Type V, which has been associated with gastrointestinal manifestations and congenital diaphragmatic hernias.