Patricia Cornejo

Phoenix Children's Hospital · DEPARTMENT RADIOLOGY

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders...

We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included v...

Imaging plays an important role in evaluating patients with suspected intrauterine and perinatal infections. Advances in fetal imaging including both ultrasound and MRI allow for increasingly more specific diagnosis if the radiologist is familiar with specific imaging features and patterns. Early imaging of neonates with suspected central nervous s...

Pediatric patients with myelopathy expressing intradural spinal vascular ectasia without arteriovenous shunting were studied at four tertiary referral neuropediatric centers. Patients were identified by retrospective review of institutional records and excluded if spinal vascular pathology could be classified into a previously described category of...

Background Increasing evidence supports an association among congenital heart disease (CHD), structural brain lesions on neuroimaging, and increased risk of neurodevelopmental delay and other structural anomalies. Fetal MRI has been found to be effective in demonstrating fetal structural and developmental abnormalities.Objective To determine the co...

Axial gradient echo T2*-weighed MRI of the spine is a valuable diagnostic tool with several advantages over axial T2-weighted TSE MRI, but it suffers from a low signal-to-noise ratio (SNR) and inconsistent image quality. This work investigates the potential of spiral MRI to reduce artifacts and produce improved SNR and image quality in axial T2*-we...

Opsoclonus–myoclonus–ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or ataxia; (3) behavioral features, typified by developmental plateauing, irritability and insomnia. About half of cas...

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/int...

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/int...

Congenital neck masses are rare lesions typically encountered during second-trimester anatomy ultrasound. Accurate diagnosis is crucial to appropriate ante- and perinatal management though imaging characterization remains a challenge. Ultrasound and MRI play complementary roles in the diagnosis of prenatal head and neck masses now facilitated by th...

Objective: To determine whether mutations reported for ZDHHC15 can cause mixed neurodevelopmental disorders, we performed both functional studies on variant pathogenicity and ZDHHC15 function in animal models. Methods: We examined protein function of 4 identified variants in ZDHHC15 in a yeast complementation assay and locomotor defects of loss-...

Purpose To determine whether brain atrophy was present in patients with anti-N-methyl-d-aspartate receptor encephalitis (anti-NMDARE) using qualitative and quantitative analyses of brain magnetic resonance imaging (MRI) and to explore clinical differences in patients with anti-NMDARE with or without brain atrophy. Methods A retrospective observati...

Background: Super-resolution is a promising technique to create isotropic image volumes from stacks of two-dimensional (2D) motion-corrupted images in fetal magnetic resonance imaging (MRI). Purpose: To determine an acquisition quality metric and correlate that metric with radiologist perception of three-dimensional (3D) image quality. Study ty...

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, en...

A Correction to this paper has been published: https://doi.org/10.1007/s00247-020-04777-z

Retinoblastoma is the prototypic genetic tumor. Caused by mutations in the RB1 gene, retinoblastomas are heritable in 40% of the cases and, in such cases, tumors are bilateral in 80%, unilateral in 15%, and trilateral in 5% of the cases. Trilateral retinoblastoma is a term that describes bilateral retinoblastomas plus a midline suprasellar or pinea...

Objectives Investigate the feasibility of saliva sampling as a noninvasive and safer tool to detect SARS-CoV-2 and to compare its reproducibility and sensitivity with nasopharyngeal swab samples (NPS). The use of sample pools was also investigated. Methods 2107 paired samples were collected from asymptomatic health care and office workers in Mexic...

Congenital brain tumors, defined as those diagnosed prenatally or within the first 2 months of age, represent less than 2% of pediatric brain tumors. Their location, prevalence and pathophysiology differ from those of tumors that develop later in life. Imaging plays a crucial role in diagnosis, tumor characterization and treatment planning. The mos...

The fetal inflammatory response syndrome (FIRS) is a condition whereby the fetus mounts an inflammatory response to intrauterine infection/inflammation. Clinical consequences include preterm premature rupture of membranes (PPROM), spontaneous preterm delivery, neonatal sepsis, bronchopulmonary dysplasia, and brain and other organ injury. Mechanisms...

The third ventricle is an uncommon location for choroid plexus papillomas. In adults, these tumors most commonly occur in the fourth ventricle. In children, they are more commonly found in the lateral ventricles. When these lesions are discovered in the third ventricle, they are often posteriorly located. Hydrocephalus and macrocephaly are typical...

Significant advances in the field of neonatal imaging has resulted in the generation of large complex data sets of relevant information for routine daily clinical practice, and basic and translational research. The evaluation of this data is a complex task for the neonatal imager who must distinguish normal and incidental findings from clinically s...

Intracranial abnormalities are commonly suspected findings on antenatal ultrasound that require evaluation by magnetic resonance imaging. This review depicts multiple abnormalities imaged as a means to guide clinicians in proper diagnosis.

Infantile metastatic choriocarcinoma is a rare tumor of placental origin that can be observed with or without maternal metastases. A single cutaneous mass may be the only clinically observed sign. Reports of imaging findings are scarce given the extreme rarity of the tumor, and the disease can be rapidly fatal in the absence of prompt diagnosis. In...

BACKGROUND Accurate tumor measurement and response to therapy continue to be a challenge due to tumor heterogeneity, variation of imaging techniques and contrast administration and inter-observer variability. Structural imaging (T1 with enhancement, T2, FLAIR) plus multimodal imaging (diffusion, perfusion, 1H-spectroscopy, PET) combined with clinic...

Pregnancy results in substantial hemodynamic and prothrombotic changes that form the foundation for downstream vascular complications, both during pregnancy and in the postpartum period. In addition, several important risk factors, including older patient age, diabetes, and smoking, can increase the risk for vascular-related pregnancy complications...

Background and purpose: A challenge with the T1-weighted postcontrast Cartesian spin-echo and turbo spin-echo brain MR imaging is the presence of flow artifacts. Our aim was to develop a rapid 2D spiral spin-echo sequence for T1-weighted MR imaging with minimal flow artifacts and to compare it with a conventional Cartesian 2D turbo spin-echo seque...

We describe the observed and quantitative signal intensity changes in the brain on baseline precontrast T1-weighted MRI data of a pediatric patient who received 35 MRI examinations with gadolinium-based contrast agent (GBCA) between the ages of 8 and 20 years. The contrast agent this patient received belongs to a class of agents with linear molecul...

Methicillin-resistant Staphylococcus aureus osteomyelitis is a severe form of infection characterized by multifocal or multiple segmental osseous involvement and subperiosteal abscess formation with increased frequency of extraosseous complications including pyomyositis, septic thrombus, and septic arthritis. Bone scan showed long segment and/or mu...

Extraosseous Ewing sarcoma arising in the head and neck region is rare, even more during the neonatal period. This poster chronicles a case of this malignancy involving the right eyelid in a 3-month-old male.