Frequency and classification of addenda in paediatric neuroradiological reports as part of quality assurance.

AIM: To determine the frequency and classification of addenda seen in paediatric brain magnetic resonance imaging (MRI) reports. MATERIALS AND METHODS: A retrospective review of the addenda of brain MRI reports from a large tertiary children's hospital was undertaken between January 2013 to December 2021 and a subset of above radiology reports was used to classify addenda over 6-month periods, October to March, spanning 2018 to 2021. A radiology fellow and a medical doctor classified the addenda into previously published categories using their best judgement. RESULTS: Out of 73,643 brain MRI reports over 9 years (108 months) included in the study, only 923 reports (1.25%) had addenda. There was a total of 13,615 brain MRI reports from 6-month periods, of which only 179 reports (1.31%) had an addendum. The number of errors according to categories were: observational 88/13,615 (0.65%); interpretational 16/13,615 (0.12%); non-observational and non-interpretative 82/13,615 (0.6%). Notifications to referring physician made in 29/13,615 (0.21%). CONCLUSIONS: The overall proportion of addenda to the brain MRI reports of children in the present study was low, at 1.25%. Categorisation of different addenda revealed the most common errors to be observational in 0.65%, including under-reading in the region of interest in 0.25%. Appropriate measures can now be introduced to minimise the error-based addenda further and improve MRI diagnosis in children. Other paediatric practices may choose to follow suit in evaluating their addenda and errors to improve practice.

Another TWIST on Baller-Gerold syndrome.

Baller-Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. Wide heterogeneity exists with regard to the presence of additional anomalies. Most of the 31 reported cases involve other malformations, including cardiac, Central Nervous System (CNS), and urogenital anomalies. Baller-Gerold syndrome is thought to have autosomal recessive inheritance. However, Gripp et al. [1999: Am. J. Med. Genet. 82:170-176] recently provided the first evidence for autosomal dominant inheritance with variable expressivity and severity. A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS). Here we report on a male Caucasian patient of nonconsanguineous parents, with synostosis of the coronal, metopic, and sagittal sutures, and bilateral radial ray hypoplasia. The patient's small, round ears with prominent crus helices, and cervical anomalies are common features of SCS. The father had very mild features of SCS. We identify direct paternal transmission of a novel missense TWIST mutation in the highly conserved Helix II domain of this bHLH-family gene. This report lends further support to the recent findings by Gripp et al. [1999]. Future TWIST mutational analysis on patients with craniosynostosis and radial ray involvement will shed light on whether Baller-Gerold syndrome should be a distinct entity or some cases should be reclassified as a heterogeneous form of SCS.

Unilateral aplasia of the middle cranial fossa floor in atypical hemifacial microsomia.

We present the first report of a patient with atypical hemifacial microsomia (HFM) and unilateral aplasia of the floor of the middle cranial fossa, glenoid fossa, and portions of her posterior fossa. The patient also developed a Chiari I malformation with cervical syrinx over a 3-year interval. This case report highlights the critical role of imaging in revealing serious, but clinically occult, structural abnormalities, as well as the evolution in the pathogenetic understanding of HFM.

Radiographic evaluation of the neonate with congenital heart disease.

Remarkable advances in pediatric cardiology have been spurred by the explosion of technologies both in interventional and surgical techniques and the ability to manipulate the genome of experimental animals. After a brief discussion concerning the striking advances in the molecular understanding of congenital heart disease, this article focuses on clues to the diagnosis of congenital heart disease and on chest radiography and common, specific lesions of the neonate such as hypoplastic left heart, transposition of the great vessels, and severe tetralogy of Fallot. The impact of treatment protocols involving interventional cardiology in the neonate also are discussed.

A Bayesian hierarchical model for classifying craniofacial malformations from CT imaging.

Single-suture craniosynostosis is a condition of the sutures of the infant's skull that causes major craniofacial deformities and is associated with an increased risk of cognitive deficits and learning/language disabilities. In this paper we adapt to classification of synostostic head shapes a Bayesian methodology that overcomes the limitations of our previously published shape representation and classification techniques. We evaluate our approach in a series of large-scale experiments and show performance superior to those of standard approaches such as Fourier descriptors, cranial spectrum, and Euclidian-distance-based analyses.

Predicting neuropsychological development from skull imaging.

Craniosynostosis is a serious and common pediatric disease caused by the premature fusion of sutures of the skull. Although studies have shown an increase in risk for cognitive deficits in patients with isolated craniosynostosis, the causal basis for this association is still unclear. It is hypothesized that an abnormally shaped skull produces a secondary deformation of the brain that results in the disruption of normal neuropsychological development. In this paper, we conduct a comparative analysis of our newly developed shape descriptors in an attempt to understand the impact of skull deformations on neurobehavior. In particular, we show that our scaphocephaly severity indices and symbolic shape signatures are predictive of mental ability and psychomotor functions, respectively, which suggests the possibility that secondary deformation could influence neuro-developmental status.

Three-dimensional MR microscopy of a transgenic mouse model of dilated cardiomyopathy.

BACKGROUND: Scientists are now able to alter the genetics of vertebrate embryos routinely to produce animal models of human developmental diseases. However, our understanding of structural changes in these animal models is limited by current methodologies. Histological techniques, although providing great anatomic detail, display only "static" data (one time point only) in two dimensions. Ultrasound may be used to generate continuous time course data, but is limited by interobserver variation, limited acoustic windows, and relatively low resolution. OBJECTIVE: To apply the high resolution, non-destructive, and three-dimensional acquisition capabilities of magnetic resonance (MR) microscopy to compare the hearts of normal mice versus an established transgenic mouse model of dilated cardiomyopathy. MATERIALS AND METHODS: Transgenic mice exhibiting dilated cardiomyopathy were developed via the introduction of a mutated, heart-specific gene (myosin light chain). Postmortem cardiac imaging was performed on the transgenic mice and normal controls. MR imaging was performed on a Bruker 3T imaging magnet using a custom radiofrequency coil following contrast perfusion of the atrial and ventricular chambers. Image resolution was 156 microm isotropic voxels. MR images were compared to gross pathologic specimens. Imaging data were post-processed using custom software to calculate the volumes of the atria and ventricles and to display the three-dimensional morphology of the chambers and myocardium. RESULTS: Of the seven mice scanned, four exhibited normal right atrial (average = 14.8 microl +/- 1.4), left atrial (average = 8.5 microl +/-0.3), right ventricular (average = 12.9 microl +/-2.7), and left ventricular (average 3.3 microl +/-0.5) volumes. Three mice exhibited dilatation of the right and left cardiac chambers (RA average = 23.9 microl +/-5.6; LA average = 15.9 microl +/-4.8; RV average = 32.5 microl +/- 6.8; LV average 24.0 microl +/-1.4). The gross morphology was verified upon autopsy of the animals and correlated with the animal's genotype. The differences in volumes between the normal and dilated cardiomyopathy mice were statistically significant (P values ranged from 0.001 to 0.024 for the different chambers). CONCLUSION: MR microscopy is a potentially useful tool for developmental biology research. The imaging of mouse hearts is feasible, and these methods provide quantitative and qualitative morphologic data of a mouse model of dilated cardiomyopathy not available using traditional methods.