A. Michelle Fink

Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings.

We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy. TD is the most common lethal skeletal dysplasia and is characterized by short long bones, which are often bowed (type 1), a small thorax, and skull deformities. There is also a recognised constellation of abnormalities of the brain primarily affecting the temporal lobes that, although well described in the postmortem setting, are not widely recognized in fetal imaging. Familiarity with this appearance will facilitate accurate antenatal diagnosis.

Pneumorrhachis secondary to traumatic pneumomediastinum in a child.

Pneumorrhachis (air within the spinal canal) is rare, and even more so in the paediatric population. We report a case in a 4-year-old boy that resolved spontaneously on treating the underlying traumatic pneumomediastinum, and discuss the causes, mechanism and implications of this condition.

Perinatal airway management of neonatal cervical teratomas.

Cervical teratomas are rare but life-threatening neonatal tumors and management of the fetus with a cervical teratoma that threatens the airway remains a clinical challenge. This has been revolutionized by advances in fetal imaging and management of the airway at delivery including the use of Ex-utero Intrapartum Treatments (EXIT procedures). We present a retrospective case series of three neonates managed over a 12-month period. Following pre-natal fetal MRI and a multi-disciplinary management approach, two newborns were managed by prompt post-natal endotracheal intubation while an EXIT procedure was required in one. All three underwent surgical resection in the first few days of life. A decision regarding the best means by which to manage the airway in fetal cervical teratoma requires fetal MRI and a multi-disciplinary team approach to determine whether EXIT, or a safer approach from a maternal perspective can be employed. We also recommend routine endotracheal intubation at birth, due to the risk of spontaneous intra-tumoral hemorrhage. The need for surgery should be planned early, as rapid growth of the tumor can threaten the viability of the overlying skin and surrounding structures.

Apert syndrome: temporal lobe abnormalities on fetal brain imaging

Apert syndrome is characterized by craniosynostosis and complex hand and foot syndactyly, and an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability. This study aims to describe the structural brain abnormalities detected by dedicated neuroimaging of fetuses with Apert syndrome.

Neonatal nasopharyngeal teratomas: cross sectional imaging features

BackgroundNeonatal nasopharyngeal teratomas are extremely rare and there are few reports describing both CT and MRI features of these lesions.ObjectiveTo describe the CT and MRI appearances of neonatal nasopharyngeal teratoma.Materials and methodsThree neonates with nasopharyngeal teratomas and severe respiratory distress were reviewed.ResultsThe nasopharyngeal mass resulted in severe respiratory compromise requiring urgent intervention. Characteristic mandibular and pterygoid plate abnormalities demonstrated by CT and MRI are described.ConclusionsPrenatal MRI enables the diagnosis, delineates tumour extent and allows planned delivery. CT and MRI play a key role in differentiating neonatal nasopharyngeal teratomas from other causes of a neonatal neck mass, thus optimising management.

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature

We describe a fetus with severe osteopetrosis diagnosed on post-mortem radiographs following termination of pregnancy at 29 weeks for major brain malformations detected on ultrasound. SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically considered part of the phenotypic spectrum of osteopetrosis. We review the literature, and propose that this may represent a novel autosomal recessive variant of osteopetrosis.

The Contribution of MRI after Fetal Anomalies Have Been Diagnosed by Ultrasound: Correlation with Postnatal Outcomes

Objective: The aim of this study was to investigate the additional value of fetal magnetic resonance imaging (MRI) in the assessment and management of fetuses with abnormal findings on ultrasound. Methods: A total of 257 patients who had fetal MRI following the ultrasound diagnosis of a fetal anomaly, or were at high risk, were included. The patients were grouped by referral category for fetal MRI. Fetal MRI was compared to ultrasound in the detection of anomalies, i.e. whether additional findings were identified and if this changed diagnosis, prognosis and management during pregnancy. Results: Ultrasound findings were confirmed on fetal MRI in 89% of the cases. Additional findings were seen with MRI in 28% of all patients. The diagnosis changed in 21% and the prognosis in 19% of the cases. Perinatal management changed in 8%. The antenatal findings were confirmed in all cases that had a postmortem examination following termination of pregnancy. In all the pregnancies that continued to delivery and for which the postnatal outcome is known, the findings correlated in 97% of the cases. Conclusion: Fetal MRI provided additional detection of fetal anomalies, leading to a change in diagnosis and prognosis in 19% of the cases. Neonatal and postmortem findings mostly confirmed the fetal MRI diagnosis, suggesting it to be a useful tool for clinical decision making in perinatal management.

The CT appearances of delayed amniotic fluid clearance from the lungs in an infant with absent pulmonary valve and congenital lobar emphysema

Congenital lobar emphysema (CLE) is a cause of severe neonatal respiratory distress. Overexpansion of the affected pulmonary lobe in the fetus is due to narrowing of the airway, with a resultant ‘ball-valve’ effect. At birth, there may be delayed clearance of fetal lung fluid. Early chest radiographs show opacification of the hyperexpanded lobe. The CT findings in the immediate neonatal period have not been previously reported. We describe the imaging in a neonate with tetralogy of Fallot and absent pulmonary valve with secondary CLE. CT demonstrates the hyperexpanded lobe with initial thickening of the interlobular septa and alveolar ground glass attenuation, with subsequent clearing. This resorption of fetal lung fluid via the pulmonary interstitium should not be confused with interstitial lung disease.

Case 137: Pneumonia and Bronchiectasis Secondary to Unrecognized Peanut Impaction

A 3-year 7-month-old boy presented to the emergency department with a 12-day history of cough and fever. Laboratory tests revealed mild anemia, monocytosis, and neutrophilia with a left shift. Both the platelet count and the C-reactive protein level were increased. A chest radiograph was obtained. This patient was discharged after 5 days of treatment with oral antibiotics. Two weeks later, recurrence of the symptoms prompted readmission. Laboratory findings were unchanged. Imaging evaluation consisted of chest radiography, ultrasonography (US), and computed tomography (CT).

Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location

Autosomal recessive omodysplasia (ARO, OMIM#258315), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally‐inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected.