Objective/Hypothesis
Sensorineural hearing loss (SNHL) is a common sequela of congenital cytomegalovirus (cCMV), potentially exacerbating neurocognitive delay. The objectives of this study were to ...assess: (1) age at which SNHL in children with cCMV; (2) stimulability of the auditory system in children with cCMV following cochlear implantation (CI); and (3) whether features of magnetic resonance imaging (MRI) potentially are predictive of hearing outcomes.
Methods
In this retrospective study of a prospectively acquired cohort, 123 children with cCMV who were referred for hearing loss at a single tertiary referral hospital over 20 years were compared with an unmatched comparative group of 90 children with GJB2‐related deafness. Outcome measures were results of newborn hearing screening (NHS), behavioral audiograms, and, in a subgroup of cochlear implant (CI) users, responses from the auditory nerve and brainstem evoked by CI at initial activation, as well as lesional volume of FLAIR‐hyperintense signal alterations on MRI.
Results
All but 3 of 123 children with cCMV had confirmed and persistent SNHL. At birth, 113 children with cCMV underwent NHS, 31 (27%) passed in both ears and 23 (20%) passed in one ear (no NHS data in 10 children). At the first audiologic assessment, 32 of 123 (26%) had normal hearing bilaterally; 35 of 123 (28%) had unilateral SNHL; and 57 of 123 (46%) had bilateral SNHL. More than half (67 of 123, 54%) experienced hearing deterioration in at least one ear. Survival analyses suggested that 60% of children who developed SNHL did so by 2.5 years and 80% by 5 years. In the children who passed NHS in one or both ears, 50% developed hearing loss by 3.5 years in the ear, which passed unilaterally (n = 23 ears), and 50% by 5 years in bilateral passes (n = 62 ears). Hearing loss was significant enough in all but one child with isolated high‐frequency loss for rehabilitation to be indicated. Hearing thresholds in individual ears were in the CI range in 83% (102 of 123), although duration of deafness was sufficient to preclude implantation at our center in 13 children with unilateral SNHL. Hearing aids were indicated in 16% (20 of 123). Responses from the auditory nerve and brainstem to initial CI stimulation were similar in children with cCMV‐related SNHL compared with GJB2‐related SNHL. Characteristic white matter changes on MRI were seen in all children with cCMV‐related SNHL (n = 91), but the lesion volume in each cortical hemisphere did not predict degree of SNHL.
Conclusions
cCMV‐related SNHL is often not detected by NHS but occurs with high prevalence in early childhood. Electrophysiological measures suggest equivalent stimulability of the auditory nerve and brainstem with CI in children with cCMV and GJB2‐related SNHL. Hyperintense white matter lesions on FLAIR MRI are consistently present in children with cCMV‐related SNHL but cannot be used to predict its time course or degree. Combined, the data show early and rapid deterioration of hearing in children with cCMV‐related SNHL with potential for good CI outcomes if SNHL is identified and managed without delay. Findings support universal newborn screening for cCMV followed by careful audiological monitoring.
Level of Evidence
3 Laryngoscope, 132:S1–S24, 2022
Children with unilateral deafness could have concurrent vestibular dysfunction which would be associated with balance deficits and potentially impair overall development. The prevalence of vestibular ...and balance deficits remains to be defined in these children.
Twenty children with unilateral deafness underwent comprehensive vestibular and balance evaluation.
Retrospective review revealed that more than half of the cohort demonstrated some abnormality of the vestibular end organs (otoliths and horizontal canal), with the prevalence of end organ specific dysfunction ranging from 17 to 48% depending on organ tested and method used. In most children, impairment occurred only on the deaf side. Children with unilateral deafness also displayed significantly poorer balance function than their normal hearing peers.
The prevalence of vestibular dysfunction in children with unilateral deafness is high and similar to that of children with bilateral deafness. Vestibular and balance evaluation should be routine and the functional impact of combined vestibulo-cochlear sensory deficits considered.
•There is a high prevalence of vestibular dysfunction in unilateral deafness.•Significantly poorer balance skills are also observed in unilateral deafness.•Vestibular and balance evaluation should be considered in this group.
Minor cranial sutural synostosis is currently regarded as a rare diagnosis. As clinical awareness grows, a greater number of cases are being documented. This study aims to describe the variants of ...unicoronal synostosis with regard to major and minor sutural involvement and secondary effects on cranial and orbital morphology. The information is aimed to improve clinical diagnosis and management.
A retrospective study was conducted collecting preoperative computed tomographic scans of patients diagnosed with unicoronal synostosis and listed for surgical interventions, identified from a craniofacial database. Within these patients, different synostotic variants were identified based on which suture was affected. Scans of normal pediatric skulls (trauma) were used for a control group. Computed tomographic scans were analyzed for sutural involvement, cranial base deflection, and ipsilateral and contralateral orbital height and width. One-way analysis of variance was used to detect differences between synostotic variants and controls.
A total of 57 preoperative computed tomographic scans of patients with unicoronal synostosis were reviewed, in addition to 18 computed tomographic scans of normal skulls (control group). Four variants of unicoronal synostosis were identified: frontoparietal, frontosphenoidal, frontoparietal and frontosphenoidal, and frontosphenoidal and frontoparietal. The last two variants differ in their temporal involvement in the direction of sutural synostosis and ultimately cranial and orbital morphology. Three variants have been previously identified, but the fourth is presented for the first time.
An understanding of the variants of unicoronal synostosis and their temporal relationships is integral for accurate clinical diagnosis and surgical correction. Recommendations for treatment are based on discrete changes in orbital morphology.
Traumatic brain injury is responsible for approximately half of all childhood deaths from infancy to puberty, the majority of which are attributable to abusive head trauma (AHT). Due to the broad way ...patients present and the lack of a clear mechanism of injury in some cases, neuroimaging plays an integral role in the diagnostic pathway of these children. However, this nonspecific nature also presages the existence of numerous conditions that mimic both the clinical and neuroimaging findings seen in AHT. This propensity for misdiagnosis is compounded by the lack of pathognomonic patterns and clear diagnostic criteria. The repercussions of this are severe and have a profound stigmatic effect. The authors present an exhaustive review of the literature complemented by illustrative cases from their institutions with the aim of providing a framework with which to approach the neuroimaging and diagnosis of AHT.
Sensorineural hearing loss results from abnormalities that affect the hair cells of the membranous labyrinth, inner ear malformations, and conditions affecting the auditory pathway from the cochlear ...nerve to the processing centers of the brain. Cochlear implantation is increasingly being performed for hearing rehabilitation owing to expanding indications and a growing number of children and adults with sensorineural hearing loss. An adequate understanding of the temporal bone anatomy and diseases that affect the inner ear is paramount for alerting the operating surgeon about variants and imaging findings that can influence the surgical technique, affect the choice of cochlear implant and electrode type, and help avoid inadvertent complications. In this article, imaging protocols for sensorineural hearing loss and the normal inner ear anatomy are reviewed, with a brief description of cochlear implant devices and surgical techniques. In addition, congenital inner ear malformations and acquired causes of sensorineural hearing loss are discussed, with a focus on imaging findings that may affect surgical planning and outcomes. The anatomic factors and variations that are associated with surgical challenges and may predispose patients to periprocedural complications also are highlighted.
RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.
and
Cerebral oxygen delivery is reduced in newborns with congenital heart disease Lim, Jessie Mei, BSc; Kingdom, Theodore; Saini, Brahmdeep, BEng ...
Journal of thoracic and cardiovascular surgery/The Journal of thoracic and cardiovascular surgery/The journal of thoracic and cardiovascular surgery,
10/2016, Letnik:
152, Številka:
4
Journal Article
Recenzirano
Odprti dostop
Abstract Objective To investigate preoperative cerebral hemodynamics in newborns with congenital heart disease. We hypothesized that cerebral blood flow and oxygen delivery would be decreased in ...newborns with congenital heart disease compared with controls. Methods Using a “feed-and-sleep” approach to performing neonatal magnetic resonance imaging, we measured cerebral blood flow by using a slice prescription perpendicular to the right and left internal carotid arteries and basilar artery at the level of the clivus. We calculated brain volume by segmenting a 3-dimensional steady-state free procession acquisition of the whole brain, allowing quantification of cerebral blood flow indexed to brain volume. Cerebral oxygen delivery was calculated as the product of cerebral blood flow and preductal systemic arterial oxygen content obtained via a combination of conventional pulse oximetry and laboratory analysis of venous blood samples for hemoglobin concentration. Results A complete set of measurements were obtained in 32 newborns with heart disease and 31 controls. There was no difference in gestational age between the heart disease and control groups. There was no difference in cerebral blood flow compared with controls (103.5 ± 34.0 vs 119.7 ± 40.4 mL/min), whereas cerebral oxygen delivery was significantly lower in the congenital heart disease subjects (1881 ± 625.7 vs 2712 ± 915.7 mLO2 /min). Ten newborns with congenital heart disease had diffuse excessive high signal intensity in their white matter and 2 had white matter injury whereas another 5 had both. Conclusions Newborns with unrepaired cyanotic congenital heart disease have decreased cerebral oxygen delivery due to arterial desaturation. If brain growth and development are adversely affected through oxygen conformance, our findings could have clinical implications in terms of timing of surgical repair.
Background: Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) is a treatable neurometabolic condition associated with pathogenic variants in the SLC19A3 gene. The classical childhood-onset ...phenotype presents at a mean age of 4 years, ranging from birth to 12 years. These patients present with subacute encephalopathy, dysarthria, dysphagia, dystonia, external ophthalmoplegia, seizures, quadriparesis, and even death. Chronically, an MRI brain reveals atrophy and necrosis of the basal ganglia. Case report: A 16-year-old girl presented in the context of pneumonia with gradual-onset, slowly progressive neurological symptoms. These initial symptoms self-resolved, without treatment with biotin or thiamine, though she had persistent concerns with her writing and memory. MRI brain noted bilateral abnormal signals in the basal ganglia, involving the head and body of the caudate nuclei and the putamen. Whole-exome sequencing (WES) revealed homozygosity for a likely pathogenic variant in the SLC19A3 gene, c.517A > G (p.N173D). Her residual neurological symptoms resolved with biotin and thiamine treatment, with the exception of ongoing memory concerns. Conclusion: We describe a patient presenting with an atypical form of the classical childhood-onset phenotype of BTBGD. Our case emphasizes that BTBGD is a condition that should be considered as a potential diagnosis in all children, including older children, presenting with the new onset of even minor neurological deficits in the context of illness. It highlights the importance of brain MRI and WES in identifying patients with atypical presentations.
2-Aminopurine (2 AP) is a fluorescent isomer of adenine and has a fluorescence lifetime of ~11 ns in water. It is widely used in biochemical settings as a site-specific fluorescent probe of DNA and ...RNA structure and base-flipping and -folding. These assays assume that 2 AP is intrinsically strongly fluorescent. Here, we show this not to be the case, observing that gas-phase, jet-cooled 2-aminopurine and 9-methyl-2-aminopurine have very short fluorescence lifetimes (156 ps and 210 ps, respectively); they are, to all intents and purposes, non-fluorescent. We find that the lifetime of 2-aminopurine increases dramatically when it is part of a hydrate cluster, 2 AP · (H2O)n, where n = 1-3. Not only does it depend on the presence of water molecules, it also depends on the specific hydrogen-bonding site to which they attach and on the number of H2O molecules at that site. We selectively microhydrate 2-aminopurine at its sugar-edge, cis-amino or trans-amino sites and see that its fluorescence lifetime increases by 4, 50 and 95 times (to 14.5 ns), respectively.
Aim
To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the ...clinical presentation.
Method
We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results. We used a new functional classification for callosal abnormalities based on embryological and anatomical correlations with four classes: complete agenesis, anterior agenesis (rostrum, genu, body), posterior agenesis (isthmus, splenium), and complete hypoplasia (thinning). We also studied the presence of extracallosal abnormalities.
Results
The new functional callosal subtyping did not reveal significant differences between the various subtypes in association with neurological outcome; however, the presence of cardiac disease was found more frequently in the group with complete agenesis. Thirty‐seven per cent (46/125) had identifiable causes: of these, 48% (22/46) had a monogenic disorder, 30% (14/46) had a pathogenic chromosomal copy‐number variant detected by CMA or karyotype, and 22% (10/46) had a recognizable clinical syndrome for which no confirmatory genetic test was available (namely Aicardi syndrome/septo‐optic dysplasia and Goldenhar syndrome). The diagnostic yield for a significant CMA change was 19%. The presence of Probst bundles was found to be associated with a better neurodevelopmental outcome.
Interpretation
The functional classification system alone ‘without clinical data’ cannot predict the functional outcome. The presence of extracallosal brain abnormalities and an underlying genetic diagnosis predicted a worse neurodevelopmental outcome. This study highlights the importance of CMA testing and cardiac evaluation as part of a routine screen.
What this paper adds
The yield of chromosomal microarray testing is high, even in cases of isolated callosal agenesis.
It highlights the significant association of cardiac anomalies in isolated and complete agenesis of the corpus callosum.
The functional anatomical classification system in isolation was not able to predict neurological outcome.
The presence of extracallosal and extra‐central nervous system malformation together with the detection of a neurogenetic etiology are the main predictors of clinical outcome.
This article is commented on by Palmer on pages 430–431 of this issue.
Objectives
Ectopic thymus is rare and can be a diagnostic challenge. This study evaluated the management of children radiographically diagnosed with ectopic cervical thymus.
Methods
A retrospective ...review of 100 patients was performed. Data related to clinical presentation, radiological imaging, pathology, and management were collected. Changes in lesion volume were tracked over time. Clinical characteristics were compared based on lesion location in the neck using analysis of variance modelling.
Results
There were 115 lesions with radiographic features of ectopic cervical thymus (15 children had bilateral lesions). Diagnosis was based on ultrasound in 98% of patients, magnetic resonance imaging in 18%, and computed tomography in 11%. Mean (SD) follow‐up duration was 2 (2.2) years. Forty‐four percent (51/115) of lesions involved the thyroid gland, 29% (33/115) were in the central neck but separate from the thyroid, 18% (21/115) had mediastinal extension, and 8% (9/115) involved the submandibular region. Location was unclear for two patients. Submandibular lesions were on average 12.4 cm3 larger (95% CI, 8.2, 16.6) than mediastinal lesions at diagnosis, P ≤ .001. Volume of thymic tissue decreased over time, from a mean (standard deviation SD) volume of 4.3 cm3 (9.2) at initial ultrasound to 2.7 cm3 (6.1) at final ultrasound (paired t‐test, P = .008). Only two patients required surgery: one for compressive symptoms, and the other to rule out malignancy.
Conclusion
Ninety‐eight percent of children with ectopic cervical thymus were managed conservatively without issues. We propose a classification system based on location to ease communication among clinicians and to help follow these lesions over time.
Level of Evidence
4, case series Laryngoscope, 130:1577–1582, 2020
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