The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development (MCD). Until a recent report identified two amino acid substitutions in four patients that had clinical features of both disorders, pathogenic variants of TUBB3 were thought distinct to either respective disorder. Three recurrent de novo Gly71Arg TUBB3 substitutions and a single patient with a de novo Gly98Ser substitution blurred the MCD and CFEOM3 phenotypic distinctions. Here we report a second patient with a missense c.292G>A (p.Gly98Ser) substitution, but without CFEOM3, the first reported evidence that even the same TUBB3 substitution can produce a spectrum of TUBB3 syndrome phenotypes. Our patient presented with amblyopia, exotropia, optic disc pallor, and developmental delay. Neuroimaging identified hypoplasia of the corpus callosum, interdigitation of the frontal lobe gyri, and dysplasia or hypoplasia of the optic nerves, basal ganglia, brainstem, and cerebellum. This report identifies the TUBB3 Gly98Ser substitution to be recurrent but inconsistently including CFEOM3, and identifies the absence of joint contractures and the presence of optic disc abnormalities that may be genotype-specific to the TUBB3 Gly98Ser substitution.

Fetal Head and Neck Masses: MRI Prediction of Significant Morbidity.

OBJECTIVE: The purpose of this study is to determine which MRI parameters of fetal head and neck masses predict high-morbidity neonatal outcomes, including ex utero intrapartum treatment (EXIT) procedure. MATERIALS AND METHODS: This retrospective study (2004-2016) included parameters of polyhydramnios (based on largest vertical pocket), mass effect on the trachea, mass midline extension, and morphologic grade and size of masses. The morbid cohort included those requiring an EXIT procedure, difficult intubation at delivery, or lethal outcome. Predictive modeling with a multivariable logistic regression and ROC analysis was then performed. RESULTS: Of 36 fetuses, five were delivered by EXIT procedures, there was one neonatal death within 12 hours after delivery, and another neonate required multiple intubation attempts. The remaining 29 fetuses were delivered at outside institutions with no interventions or neonatal morbidity. The largest vertical pocket and mass effect on the trachea were selected as independent predictors by the logistic regression. The cross-validated ROC AUC was 0.951 (95% CI, 0.8795-1). CONCLUSION: The largest vertical pocket measurement and mass effect on the trachea were the most contributory MRI parameters that predicted significant morbidity in fetuses with masses of the face and neck, along with other significant parameters. These parameters predict significant morbid neonatal outcomes, including the need for EXIT procedures.

MR detection of retinal hemorrhages: correlation with graded ophthalmologic exam.

BACKGROUND: Dilated fundoscopic exam is considered the gold standard for detecting retinal hemorrhage, but expertise in obtaining this exam is not always immediately available. MRI can detect retinal hemorrhages, but correlation of the grade or severity of retinal hemorrhage on dilated fundoscopic exam with retinal hemorrhage visibility on MRI has not been described. OBJECTIVE: To determine the value of standard brain protocol MRI in detecting retinal hemorrhage and to determine whether there is any correlation with MR detection of retinal hemorrhage and the dilated fundoscopic exam grade of hemorrhage. MATERIALS AND METHODS: We conducted a retrospective chart review of 77 children <2 years old who were seen for head trauma from April 2007 to July 2013 and had both brain MRI and dilated fundoscopic exam or retinal camera images. A staff pediatric radiologist and radiology resident reviewed the MR images. Retinal hemorrhages were graded by a chief ophthalmology resident on a 12-point scale based on the retinal hemorrhage type, size, location and extent as seen on review of retinal camera images and detailed reports by ophthalmologists. Higher scores indicated increased severity of retinal hemorrhages. RESULTS: There was a statistically significant difference in the median grade of retinal hemorrhage examination between children who had retinal hemorrhage detected on MRI and children who did not have retinal hemorrhage detected on MRI (P = 0.02). When examination grade was categorized as low-grade (1-4), moderate-grade (5-8) or high-grade (>8) hemorrhage, there was a statistically significant association between exam grade and diagnosis based on MRI (P = 0.008). For example, only 14% of children with low-grade retinal hemorrhages were identified on MRI compared to 76% of children with high-grade hemorrhages. MR detection of retinal hemorrhage demonstrated a sensitivity of 61%, specificity of 100%, positive predictive value of 100% and negative predictive value of 63%. Retinal hemorrhage was best seen on the gradient recalled echo (GRE) sequences. CONCLUSION: MRI using routine brain protocol demonstrated 61% sensitivity and 100% specificity in detecting retinal hemorrhage. High-grade hemorrhage was more often detected on MRI than low-grade hemorrhage, 76% vs. 14%. GRE images were the most sensitive for detection of retinal hemorrhages. A dilated fundoscopic exam can be difficult to obtain in infancy, especially in critically ill or non-sedated children. MRI is a useful modality for added documentation of retinal hemorrhage and can be used as an alternative exam when ophthalmologic expertise or retinal camera images are unavailable. Additionally, identification of retinal hemorrhage on MRI can raise the possibility of abuse in children presenting with nonspecific findings.

Second trimester fetal MRI features in a fetus with TUBB3 gene mutation.

Tubulinopathies are a heterogeneous group of complex cortical malformations that are associated with mutations in tubulin genes. TUBB3 gene mutation is associated with a broader spectrum of central nervous system malformations and constitutes about 10% of all tubulinopathies. The diagnosis may not be immediately apparent on imaging, though the differential diagnosis may be narrowed based on imaging findings and allow for more directed genetic testing. We report a 22-year-old gravida-1 nulliparous female whose routine second trimester fetal ultrasound revealed ventriculomegaly and possible agenesis of the corpus callosum. Fetal magnetic resonance imaging showed severe lateral and third ventriculomegaly and a dysplastic, z-shaped brainstem without any evidence of ocular abnormalities. Genetic testing revealed a pathogenic mutation in TUBB3.

A rare case of torsion and infarction of an extralobar pulmonary sequestration with MR, CT, and surgical correlation.

Extralobar pulmonary sequestration is a rare congenital pulmonary malformation that may present early in life or remain asymptomatic. Here we present a case of torsion of an extralobar pulmonary sequestration on its vascular pedicle. Although the patient's initial symptomatology suggested intraabdominal pathology, the correct preoperative diagnosis was determined in large part by the lesion's MRI characteristics, which strongly suggested tissue infarction.

Presentation and Diagnosis of Ureteral Quadruplication: Case Report and Analysis of the Literature.

Ureteral quadruplication is exceedingly rare. All except for 2 cases were symptomatic and nearly all underwent intervention. We present the first case of asymptomatic ureteral quadruplication in the presence of ureteral cyst. The report is first to prove ureteral quadruplication, even with ureteral cyst, can have normal renal function and parenchyma without obstruction or reflux. The report analyzes differences between the 14 cases of ureteral quadruplication in the English literature. It is first to describe bilateral ureteral cysts with ureteral quadruplication and triplication, and is first to accurately characterize the appearance of quadruplicated ureters inside the kidney.

Massively Dilated Lower Pole Ectopic Megaureter with Involuted Lower Pole Renal Moiety and Collecting System: An Exception to the Meyer-Weigert Rule.

Duplicated collecting systems have a predictable draining pattern that is described by the Meyer-Weigert rule. When there are abnormalities associated with duplicating collecting systems, the upper pole moiety drains inferomedially (most commonly associated with obstruction), and the lower pole moiety drains superolaterally (most commonly associated with vesicoureteral reflux). We present a case of an infant with a duplicated collecting system that violates the Meyer-Weigert rule with lower pole megaureter with massive dilation, ectopic insertion, and associated involuted lower pole renal moiety. To our knowledge, this is the only reported case of a lower pole ectopic ureter with an involuted lower pole renal moiety.

Multimodal depiction of a rare immature gastric teratoma from fetus to infant.

Immature gastric teratomas are rare gastrointestinal tumors. Presented here are imaging findings of this neoplasm which was first seen via antenatal ultrasound. Subsequent fetal magnetic resonance imaging demonstrated a partially calcified mass that contained areas of diffusion restriction. Meconium pseudocyst was originally entertained as a differential consideration. Follow-up computed tomography and upper gastrointestinal fluoroscopy after delivery revealed a bilobed mass that was at least partially endogastric. Resection was performed, and the diagnosis was uncovered via histologic analysis.