Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome, also known as Herlyn-Werner-Wunderlich Syndrome, is a rare congenital anomaly of the female urogenital tract. OHVIRA syndrome results from abnormal development of the Mullerian duct during weeks 10-12 of gestation. OHVIRA syndrome is characterized by a classic triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal anomaly. Clinical presentation of OHVIRA syndrome depends on the degree of hemivaginal obstruction, with Type 1 defined as complete obstruction and Type 2 characterized by incomplete obstruction. In patients with complete hemivagina obstruction, OHVIRA syndrome may manifest in adolescence with pelvic distention and cyclic pain secondary to hematometrocolpos. Several renal anomalies have been described in OHVIRA syndrome including renal agenesis, multicystic dysplastic kidney, and duplicated collecting system. In this report, we present two cases of OHVIRA syndrome with different manifestations of unilateral renal anomaly. The first case features a 12-year-old female who presented with heavy menstrual bleeding. Transpelvic ultrasound demonstrated possible uterine septation and a dilated cervix containing heterogeneous avascular material. Subsequent pelvic MRI revealed duplicated uterine horns with two separate cervices, consist with uterus didelphys. On MRI, the left cervix was distended with non-enhancing debris, suggestive of obstructed left hemivagina. No left kidney was identified in the left renal fossa or elsewhere in the abdomen or pelvis on renal ultrasound. Multiple non-communicating cysts were seen in the left abdomen, raising suspicion for multidysplastic left kidney with arrested ascent. The second case involves a 10-year-old prepubertal female who presented from an outside hospital for evaluation of a uterine anomaly, which was incidentally seen on MRI pelvis performed for characterization of sacrococcygeal teratoma. Transpelvic ultrasound and pelvic MRI at our institution showed duplicated uterine horns with limited visualization of the cervices due to small size. Differential considerations included uterus didelphys and bicornuate uterus, and follow-up imaging was recommended after puberty for definitive diagnosis. MRI pelvis obtained 4 years later demonstrated complete duplication of the uterus, cervix, and vagina with obstruction of the right hemivagina. MRI pelvis also demonstrated right renal agenesis, consistent with OHVIRA syndrome. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Merriam Caroline, Ehrlich Lauren

Keywords: Mullerian Duct Anomalies, Congenital

Screening for developmental hip dysplasia by ultrasound (US) is most accurate after 6 weeks corrected gestational age (CGA). Scanning earlier increases false-positive rates, leading to repeat exams, stress for families, higher healthcare costs, and exposure of unvaccinated infants to sick patients. We noted that many premature infants were scheduled for hip US before 6 weeks CGA. Working with a multidisciplinary Quality Improvement (QI) team, we aimed to reduce the incorrectly scheduled exam rate from 50% to below 25% within 6 months. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Benyakoub Amine, Ehrlich Lauren

Keywords: Hip Dysplasia, QI, PDSA

Scimitar syndrome, also known as congenital pulmonary venolobar syndrome, is a rare variant of partial anomalous pulmonary venous return (PAPVR), typically involving the right-sided pulmonary veins. Scimitar syndrome is usually characterized by drainage of the right lung by an anomalous right pulmonary vein, which may empty into the IVC, azygos vein, hepatic vein, coronary sinus, or right atrium. On frontal chest radiograph, the anomalous right pulmonary vein appears as a curvilinear density in the right lung, similar to the shape of a Turkish scimitar sword. Associated imaging features of Scimitar syndrome are variable, but often include right lung hypoplasia and systemic arterial supply to the abnormal right lung segments. Left-sided Scimitar syndrome is extremely rare, with only a handful of cases reported in the literature. In this report, we present a case of left scimitar syndrome with anomalous left pulmonary vein draining into the left renal vein. A 3-year-old female twin, born at term, presented to pediatric cardiology for evaluation of an asymptomatic murmur detected during a routine well-child check. Physical exam revealed a benign Still's murmur. However, ECG demonstrated right ventricular hypertrophy, warranting further evaluation with echocardiogram. Echocardiogram showed moderate left pulmonary artery hypoplasia and poor delineation of the left pulmonary veins. Subsequent cardiac MRI demonstrated absence of normal left pulmonary veins draining into the left atrium and Qp:Qs of 1.5, raising concern for a left-to-right shunt in the setting of anomalous left pulmonary venous return. Further evaluation with cardiac CTA delineated drainage of the entire left lung by a single vertical anomalous left pulmonary vein which coursed below the diaphragm into the left renal vein. The left renal vein then emptied into a moderately dilated IVC. Normal right sided pulmonary venous return into the left atrium was noted. No fissure was visualized in the left lung, which appeared to contain a single lobe. No definite systemic arterial supply to the left lung was identified on cardiac CTA. Imaging findings were compatible with left-sided scimitar syndrome. After discussion of the case at multidisciplinary conference, surgical management was deferred, as the patient was asymptomatic. The patient will be followed with yearly echocardiogram and ECG to monitor for developing stenosis of the anomalous left pulmonary veins. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Merriam Caroline, Ehrlich Lauren

Keywords: Congenital Heart, Anomalies

Sickle cell disease (SCD) is characterized by repeated episodes of vaso-occlusion and hemolysis beginning in the pediatric period that result in serious multi-organ system complications. In particular, renal complications are often the cause of morbidity and reduced life expectancy of patients with SCD. Therefore, it is essential that radiologists be able to identify the imaging features early to help guide prompt and appropriate treatment. Sequelae in pediatric patients include sickle cell nephropathy, infarction and papillary necrosis, and assorted glomerulopathies. These in turn can lead to altered hemodynamics, impaired urinary concentrating ability, hematuria, proteinuria, and acute and chronic kidney injury. Children with SCD are also at increased risk of asymptomatic bacteriuria and urinary tract infection. Even those children and young adults who only have sickle cell trait (SCT) rather than SCD may develop chronic kidney disease later in life and carry markedly increased risk for renal medullary carcinoma. Segmental testicular infarction can compromise fertility in patients with both SCD and SCT. The genitourinary manifestations of SCD and SCT in the pediatric patient will be reviewed in this educational exhibit, with an emphasis on radiologic appearances. For each entity, the clinical presentation, pathophysiology, and differential diagnosis of the imaging findings will also be briefly reviewed. The renal complications covered will include renal infarction, papillary necrosis, renal vein thrombosis (as a complication of nephrotic syndrome), urinary tract infection, hematuria, renal medullary carcinoma, and acute and chronic kidney disease. Testicular and penile sequelae of SCD including segmental testicular infarction and priapism will also be discussed. A variety of imaging modalities will be used to illustrate the various complications, including ultrasonography, computed tomography, and magnetic resonance imaging. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Taylor Erin, Graeber Brendon, Ehrlich Lauren

Keywords: Sickle, Renal, Genitourinary

Meningoceles in the cranium occur when an osseous defect in the skull base allows for the protrusion or herniation of the meninges into the extracranial compartment. Meningoceles vary in severity and may be asymptomatic or complicated by meningitis, brain abscess, pneumocephalus, or cerebrospinal fluid leak. Meningoceles can be congenital, traumatic, iatrogenic (such as in sinus or craniofacial surgery), spontaneous (due to increased intracranial pressure) or idiopathic. The most common sites of meningoceles in the skull base are the cribriform plate, sphenoid sinus, perisellar region, and tegmen tympani or mastoideum. Accurate and timely detection is essential for avoiding complications of meningoceles. Localization of the site of the meningoceles and assessment of their size and composition is accomplished through a variety of imaging techniques, such as with CT or MR myelography. Surgical repair of meningoceles may be accomplished through both open and endoscopic approaches. A 2-year-old male patient with a past medical history of febrile seizures and postinfectious hydrocephalus requiring ventriculoperitoneal shunt placement and multiple shunt revisions initially presented with emesis and lethargy concerning for shunt malfunction. MRI showed a fluid-signal intensity located adjacent to the petrous portion of the right temporal bone, extending caudally to the right upper neck, which raised concern for cerebrospinal fluid (CSF) leak. Lumbar puncture was notable for an elevated CSF opening pressure of 40 cm H2O. CT myelogram confirmed a small (7mm) meningocele protruding through an osseous defect in the right jugular foramen, which completely opacified with intrathecally-injected contrast. Delayed images obtained following two hours further demonstrated subtle contrast enhancement surrounding the right jugular vein in the upper neck, raising concern for a slow CSF leak from the meningocele. Due to elevated CSF opening pressure, shunt malfunction was theorized to be the cause of the patient’s emesis and lethargy. Shunt was revised and patient was subsequently able to be discharged. Repeat follow up imaging demonstrated stabile size of patient’s meningocele. Due to small size, and resolution of patient’s symptoms following shunt revision, patient’s meningocele will be followed with recurrent MR imaging. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Kuehne Alexander, Chen Danling, Hwang James, Ehrlich Lauren, Lisse Sean

Keywords: CSF, MRI, Neuroradiology

Grisel syndrome is a rare, acquired, non-traumatic rotatory subluxation of the atlantoaxial joint that typically occurs in the childhood period. It arises from cervical ligamentous laxity and instability following an infectious or inflammatory process in the head and neck, such as from an upper respiratory tract infection or from otolaryngolic surgery. The proposed pathophysiology of the disorder is infective septic emboli spreading from the posterosuperior pharynx to the upper cervical region via the pharyngovertebral vein, which connects the posterior nasopharyngeal veins with the periodontoid plexus. Patients present with neck pain, stiffness, and torticollis. Four types of atlantoaxial subluxation have been described using the Fielding classification system: type 1: rotation of the atlas on the axis without anterior displacement; type 2: atlantoaxial subluxation with 3-5 mm anterior displacement; type 3: atlantoaxial subluxation with greater than 5 mm anterior displacement; and type 4: atlantoaxial subluxation with posterior displacement. Permanent deformation and severe neurologic sequelae may result in the absence of timely intervention. A 11-year-old male patient presented to the hospital with a two-week-history of severe postoperative neck pain, stiffness, headache, jaw pain, trismus, and anorexia after undergoing elective outpatient adenotonsillectomy. Contrast-enhanced CT imaging of the neck demonstrated a 4.0 cm rim-enhancing collection in the right C1-C2 prevertebral space extending into the right atlantoccipitalatlantooccipital and atlantoaxial joints consistent with prevertebral abscess formation. Additional imaging findings included atlantoaxial rotation and anterior subluxation of C1 on C2 up to 9 mm. MR of the cervical spine demonstrated evidence of prevertebral space infection, osteomyelitis of C1 and the C2 odontoid process, and rotatory and anterior atlantoaxial subluxation. Findings met criteria for Fielding type III rotatory atlantoaxial dislocation and Grisel’s syndrome. While the patient initially received conservative treatment with an extended intravenous antibiotics course of intravenous antibiotics and application of a hard collar, follow-up imaging demonstrated worsening infection, increased atlantoaxial subluxation, and central canal stenosis at C1-C2. He consequently underwent neurosurgical decompression and occipital-cervical fusion with full recovery of neurologic function. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Chen Danling, Kuehne Alexander, Hwang James, Tu Long, Ehrlich Lauren, Lisse Sean

Keywords: Infection, Cervical Spine, Atlantodental

Pallister-Hall syndrome is an exceedingly rare genetic disorder characterized by multiorgan anomalies encompassing hypothalamic hamartoma, postaxial polydactyly, bifid epiglottis, renal malformations and imperforate anus. The syndrome arises from a mutation in the GLI3 gene, which can be inherited in autosomal dominant fashion or occur de novo. A significant manifestation of Pallister-Hall syndrome is the presence of a hypothalamic hamartoma, a benign tumor of the hypothalamus. Although benign, these lesions can cause severe endocrine dysfunction by interfering with the hypothalamic-pituitary axis. Abnormal neural or glial cell migration in the tuber cinereum of the hypothalamus leads to abnormal expansion of the hypothalamus, manifesting in a spectrum of pituitary dysfunction ranging from pituitary displacement to severe pan-hypopituitarism. A well-established feature of the hypothalamic hamartomas associated with Pallister-Hall syndrome is the incidence of gelastic seizures (so-called “laughing” seizures), characterized by episodes of involuntary laughing. A male neonate was born with polydactyly, bifid epiglottis, cryptorchidism, and Hirschsprung’s disease. The patient was additionally found to have right sided vesicouteral reflux requiring extravesical ureteral reimplantation. Genetic analysis revealed a mutation in the GLI3 gene, compatible with Pallister-Hall syndrome. Once diagnosed, the patient underwent contrast-enhanced MR imaging of the brain which demonstrated a large lobulated 2.6 x 2.0 cm suprasellar mass with encroachment posteriorly upon the midbrain and associated superior displacement of the third ventricle. The lesion showed low-grade enhancement following gadolinium contrast administration, displayed no significant abnormality on diffusion-weighted or susceptibility weighted imaging, and was isodense to brain tissue on all sequences. Serial follow-up MRIs demonstrated minimal increase in size of the non-enhancing suprasellar mass. Findings were suggestive of hypothalamic hamartoma, in keeping with the classical presentation of Pallister-Hall syndrome. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Chen Danling, Kuehne Alexander, Hwang James, Benyakoub Amine, Ehrlich Lauren, Lisse Sean

Keywords: Pituitary Abnormalities, Genetics, Genitourinary

Parechovirus infection is a recognized cause of childhood meningoencephalitis with distinctive neuroimaging findings. Human parechovirus (HPeV) is a single-RNA virus from the Picornaviridae viral family transmitted through respiratory or gastrointestinal contact. While the clinical presentation of parechovirus infection usually manifests as mild, self-limiting symptoms, in rare cases, the virus may infect the central nervous system and result in seizures, encephalopathy, and permanent neurologic disability. Pediatric patients younger than two years of age are at greatest risk for central nervous system (CNS) infection. CNS viral infection may be confirmed by lumbar puncture. Typical imaging features of parechovirus encephalitis on brain MR imaging include a diffuse pattern of restricted diffusion involving the subcortical and deep periventricular white matter, predominantly within the frontoparietal region, with additional involvement of the corpus callosum and the bilateral thalami. The differential diagnosis of similar radiologic presentations includes other causes of viral encephalitides (such as rotavirus, chikingunya, and HSV), hypoxic-ischemic encephalopathy, leukodystrophy, and rare genetic metabolic disorders. A two-week-old male patient without significant past medical history presented to the pediatrician with irritability and increased work of breathing. Within a day, the patient developed worsening tachypnea, increased grunting, pallor, lethargy, and exanthem of the chest and neck. The patient presented to the hospital and was intubated for respiratory distress. Continuous electroencephalography recorded during inpatient admission was notable for abnormal ictal burden consistent with status epilepticus. Brain MR imaging was obtained, and demonstrated the characteristic imaging findings of parechovirus infection of diffuse abnormal restricted diffusion throughout the bilateral subcortical and periventricular white matter, corpus callosum, and thalami, with sparing of the cortex. HPeV RNA was positive in PCR assays of cerebrospinal fluid, serum, and stool. Patient received 2 doses of intravenous immunoglobulin. Unfortunately, there is no current further treatment for parechovirus infection and our patient ended up succumbing to the disease. We hope that this case presentation highlights the unique imaging feature characteristics of parechovirus and can help include this rare infection on the differential for pediatric radiologists moving forward. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Kuehne Alexander, Chen Danling, Hwang James, Tu Long, Ehrlich Lauren, Lisse Sean

Keywords: Meningitis, Infection, Neuroradiology

Filamin A (FLNA) is a widely expressed X-linked dominant gene that encodes Filamin A, a protein that crosslinks actin filaments and plays a crucial role in the structure of the cell cytoskeleton. With such a broad role, FLNA mutations are especially consequential and can result in cardiovascular malformations, intellectual disability, skeletal dysplasia, and neuronal migration abnormalities. Additionally, recent literature has linked FLNA mutation to pediatric-onset interstitial lung disease. A three-month-old female with a history of atrial septal defect, patent ductus arteriosus, pulmonary valve dysplasia, micrognathia, and recent hospitalization for parainfluenza infection causing respiratory failure presented to the emergency department with worsening hypoxemia and respiratory distress. Initial chest radiograph demonstrated an interval increase in bilateral patchy opacifications suggestive of worsening multifocal infection. The patient was subsequently admitted. The patient’s clinical status failed to improve after multiple days of admission. A non-contrast CT study of the chest revealed multiple regions of air trapping, atelectasis, coarsened interstitial markings, and diffuse septal thickening, differential diagnosis included interstitial lung disease versus congenital alveolar abnormality. Of note, MR imaging of the brain obtained showed diffuse nodularity along the subependymal lining of the lateral ventricles and temporal horns, compatible with gray matter heterotopia. This prompted genetic testing which revealed Filamin A deficiency. Filamin A mutation typically presents radiographically with hyperinflation of the lungs with scattered atelectasis, which can be complicated by concomitant pneumonia. This appearance can mimic pulmonary emphysema and bronchopulmonary dysplasia. Cardiac anomalies are a common manifestation of the mutation; notably, our patient had a history of a dysplastic pulmonary valve, ASD and PDA. CT imaging patterns vary and can present as a combination of cystic and diffuse ground-glass changes, hyperinflation, and emphysema. After extensive consultation, our patient transitioned to palliative care and ultimately passed away at 5 months of age. Maintaining a high index of suspicion for this rare but important entity is crucial to accurately diagnosing this inherited mutation, treating affected patients appropriately, and providing patients and their families with essential information regarding prognosis and inheritance patterns. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Hwang James, Chen Danling, Kuehne Alexander, Benyakoub Amine, Tu Long, Lisse Sean, Ehrlich Lauren

Keywords: Interstitial Lung Disease, Genetics, Chest Computed Tomography (CT)