-
The Journal of Maternal-fetal &... Dec 2023Congenital CMV infection (cCMV) is the most common congenital infection with 10-15% of cases developing symptomatic disease. Early antiviral treatment is of essence when...
BACKGROUND
Congenital CMV infection (cCMV) is the most common congenital infection with 10-15% of cases developing symptomatic disease. Early antiviral treatment is of essence when symptomatic disease is suspected. Recently, the use of neonatal imaging has been implicated as a prognostic tool for long term sequalae among asymptomatic newborns at high risk. Even though neonatal MRI is commonly used in neonatal symptomatic cCMV disease, it is less often used in asymptomatic newborns, mainly due to cost, access and difficulty to perform. We have therefore developed an interest in assessing the use of fetal imaging as an alternative. Our primary aim was to compare the fetal and neonatal MRIs in a small cohort 10 asymptomatic neonates with congenital CMV infection.
METHODS
We performed a single-center retrospective cohort study (case-series) on a convenience sample of children born from January 2014 to March 2021 with confirmed congenital CMV infection who had undergone both fetal and neonatal MRIs. We created a checklist of relevant cerebral abnormalities and asked 4 blinded radiologists to assess the MRIs (2 for each, namely fetal and neonatal) and then compared the findings between the fetal and neonatal imaging as well as the concordance in reporting of abnormalities within each category.
FINDINGS
Overall concordance between prenatal and postnatal scans was high (70%). When comparing the two blinded reports for each MRI, we found high levels of concordance: 90% concordance for fetal MRIs and 100% for neonatal MRIs. The most common abnormalities identified in both fetal and neonatal scans were "abnormal white matter hyperintensity" and "subependymal cysts."
INTERPRETATION
Even though this is a small descriptive study, it indicates that fetal MRI could potentially provide us with similar information as neonatal imaging. This study could form the basis for subsequent larger future studies.
Topics: Pregnancy; Female; Child; Infant, Newborn; Infant; Humans; Retrospective Studies; Cytomegalovirus Infections; Magnetic Resonance Imaging; Fetal Diseases; Neuroimaging
PubMed: 37290964
DOI: 10.1080/14767058.2023.2220564 -
Neuroradiology May 2024This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves... (Review)
Review
PURPOSE
This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves into masses originating from cells of the ventricular lining, those within the septum pellucidum, and brain parenchyma cells extending into the ventricles. The aim of this series is to offer a comprehensive understanding of these supratentorial intraventricular masses, encompassing their primary clinical findings and histological definitions.
METHODS
We conducted a review and analysis of relevant epidemiological data, the current genetics/molecular classifications as per the fifth edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (WHO CNS5), and imaging findings. Each supratentorial intraventricular mass was individually evaluated, with a detailed discussion on its clinical and histological features.
RESULTS
This article covers a range of supratentorial intraventricular masses observed in children. These include colloid cysts, subependymal giant cell astrocytomas, ependymomas, gangliogliomas, myxoid glioneuronal tumors, central neurocytomas, high-grade gliomas, pilocytic astrocytomas, cavernous malformations, and other embryonal tumors. Each mass type is characterized both clinically and histologically, offering an in-depth review of their individual imaging characteristics.
CONCLUSION
The WHO CNS5 introduces notable changes, emphasizing the vital importance of molecular diagnostics in classifying pediatric central nervous system tumors. These foundational shifts have significant potential to impact management strategies and, as a result, the outcomes of intraventricular masses in children.
Topics: Child; Humans; Glioma; Brain; Ependymoma; Astrocytoma; Tomography, X-Ray Computed; Brain Neoplasms; Supratentorial Neoplasms
PubMed: 38085360
DOI: 10.1007/s00234-023-03253-3 -
Medicine Oct 2023Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually... (Review)
Review
RATIONALE
Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance.
PATIENT CONCERNS
Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of abnormal ultrasound findings. Case 1 presented subependymal cyst and case 2 presented intrauterine growth restriction, persistent left superior vena cava and pericardial effusion in clinical ultrasound examination.
DIAGNOSES
Cytogenetic examination showed that the 2 fetuses presented normal karyotypic results. CMA detected 1.536 Mb (case 1) and 1.409 Mb (case 2) microdeletions in the region of 7q11.23 separately.
INTERVENTIONS
Both couples opted for the termination of pregnancies based upon genetic counseling.
OUTCOMES
The deleted region in both fetuses overlapped with Williams-Beuren syndrome. To our knowledge, case 1 was the first reported fetus of Williams-Beuren syndrome with subependymal cyst.
LESSONS
The genotype-phenotype of Williams-Beuren syndrome is complicated due to the phenotypic diversity. For prenatal cases, clinicians should consider the combination of ultrasonography, traditional cytogenetic, and molecular diagnosis technology when genetic counseling.
Topics: Humans; Female; Pregnancy; Williams Syndrome; Vena Cava, Superior; Prenatal Diagnosis; Genetic Testing; Cysts
PubMed: 37904428
DOI: 10.1097/MD.0000000000034852 -
BMC Cardiovascular Disorders Dec 2023Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the... (Review)
Review
BACKGROUND
Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario. Our literature review found that only 2% (1 out of 61) of rhabdomyoma cases were found in the right atrium. The majority of fetal cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC).
CASE PRESENTATION
A 7-day-old male neonate presented with arrhythmias and an atrial mass for further evaluation. Echocardiography revealed a hyperechoic, round, uniform right atrial mass (25 mm). An abdominal and testicular ultrasound showed multiple thin-walled cortical cysts in both kidneys and a scrotal hydrocele, respectively. His laboratory workup was insignificant except for hypomagnesemia. Electrocardiography revealed junctional rhythm and PACs with wave distortions. A brain magnetic resonance imaging scan revealed multiple subependymal lesions on the frontal and occipital horns of the lateral ventricles. These findings (Fig. 1), along with a family history of TSC, confirmed the diagnosis of TSC with associated CR. The patient was treated symptomatically with an anti-convulsant and monitored with regular follow-ups. Surgical resection was not required.
CONCLUSION
Despite CR's predominance in the ventricles, a diagnosis of rhabdomyoma should be kept in mind in the presence of a solitary atrial mass and PACs. Physicians should evaluate systemic findings related to TSC and provide appropriate follow-up and family screening. Surgical resection is not always required, and symptom management can be achieved through medical treatment alone.
Topics: Infant; Infant, Newborn; Humans; Male; Tuberous Sclerosis; Rhabdomyoma; Echocardiography; Electrocardiography; Heart Atria; Arrhythmias, Cardiac; Heart Neoplasms
PubMed: 38062408
DOI: 10.1186/s12872-023-03639-4 -
Frontiers in Endocrinology 2023Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three...
BACKGROUND
Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three types. Type B PCD is clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal movement, and seizures.
CASE PRESENTATION
Here, we report the first case of type B PCD in China, presenting with intractable lactic acidosis shortly after birth. A compound heterozygous mutation in the PC gene was identified by whole-exome sequencing, NM_001040716.2: c.1154_1155del and c.152G>A, which were inherited from her asymptomatic parents, respectively. Furthermore, prenatal neuroradiological presentations including widened posterior horns of lateral ventricles, huge subependymal cysts, and increased biparietal diameter and head circumference were concerned. Symptomatic treatment was taken and the infant died at 26 days.
CONCLUSION
To our knowledge, this is the minimum gestational age (22w5d) that's when the prenatal onset of the neuroradiologic phenotype of PCD was observed. PCD has a poor prognosis and lacks an effective treatment, so this paper is shared to highlight the importance of PCD prenatal diagnosis in the absence of family history.
Topics: Pregnancy; Female; Humans; Pyruvate Carboxylase Deficiency Disease; Acidosis, Lactic; Pyruvate Carboxylase; Seizures; Muscle Hypotonia
PubMed: 37484962
DOI: 10.3389/fendo.2023.1199590 -
Pediatric Radiology Feb 2024White matter change is a well-known abnormality in congenital cytomegalovirus (cCMV) infection, but grading remains challenging and clinical relevance unclear. (Observational Study)
Observational Study
Apparent diffusion coefficient values of the white matter in magnetic resonance imaging of the neonatal brain may help predict outcome in congenital cytomegalovirus infection.
BACKGROUND
White matter change is a well-known abnormality in congenital cytomegalovirus (cCMV) infection, but grading remains challenging and clinical relevance unclear.
OBJECTIVE
To investigate if quantitative measurement of white matter apparent diffusion coefficient (ADC) values in magnetic resonance imaging (MRI) of the neonatal brain can predict outcome in cCMV.
MATERIALS AND METHODS
A retrospective, single-center observational study, including patients with cCMV who had a neonatal brain MRI with diffusion-weighted imaging, was performed between 2007 and 2020. Regions of interest were systematically placed in the white matter on the ADC maps. Two pediatric radiologists independently scored additional brain abnormalities. Outcome measures were neonatal hearing and cognitive and motor development. Statistical analysis included simple and penalized elastic net regression.
RESULTS
Neonatal brain MRI was evaluated in 255 patients (median age 21 days, 25-75 percentiles: 14-28 days, 121 male). Gyral abnormalities were noted in nine patients (3.5%), ventriculomegaly in 24 (9.4%), and subependymal cysts in 58 (22.7%). General white matter ADC was significantly higher in patients with neonatal hearing loss and cognitive and motor impairment (P< 0.05). For neonatal hearing loss, simple logistic regression using only general white matter was the best prediction model, with a receiver operating characteristic area under the curve (AUC)=0.76. For cognitive impairment, interacting elastic net regression, including other brain abnormalities and frontoparietal white matter ADC, performed best, with AUC=0.89. For motor impairment, interacting elastic net regression, including other brain abnormalities and deep anterior frontal white matter performed best, with AUC=0.73.
CONCLUSION
Neonatal white matter ADC was significantly higher in patients with clinical impairments. Quantitative ADC measurement may be a useful tool for predicting clinical outcome in cCMV.
Topics: Infant, Newborn; Child; Humans; Male; White Matter; Retrospective Studies; Magnetic Resonance Imaging; Diffusion Magnetic Resonance Imaging; Brain; Cytomegalovirus Infections; Brain Diseases; Hearing Loss
PubMed: 38182852
DOI: 10.1007/s00247-023-05838-9