Diagnostic analysis of baseline brain MRI features in infants with congenital cytomegalovirus infection: a simplified scoring system

Kachramanoglou, Carolina; Jan, Wajanat; Jones, Brynmor; Papachatzi, E.; Zombori, L.; Khan, Faraan; Gaur, Pritika; Basheer, Nigel; Randell, Paul; Lyall, Hermione

doi:10.1016/j.crad.2021.09.015

Cited by 9 publications

(7 citation statements)

References 23 publications

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“…38 cCMV infection can also perturb developmental processes in the fetal and neonatal brain resulting in abnormalities that overlap many congenital MIC syndromes including cortical dysgenesis, intracranial (predominantly periventricular) calcifications, dysgenesis of the corpus callosum, cerebellar hypoplasia with additional features as well such as ventriculomegaly, lenticulostriate vasculopathy, periventricular cystic malformations, and fetal brain sequence disruption or arrest syndrome. [39][40][41] Of note, intracranial calcifications, as seen with cCMV, CZS, and other in utero infections, may be underreported in our series as most children underwent brain imaging by MR which has limited sensitivity for their detection. All in all, the phenotypic features of children with cCMV are similar to, or at times indistinguishable from, CZS, and now ANKLE2-related MIC.…”

Section: Discussionmentioning

confidence: 87%

“…While the CZS has gained much public attention, it is important to remember that congenital cytomegalovirus (cCMV) continues to be the most common congenital viral infection globally and is a common cause of neurodevelopmental disabilities, sensorineural hearing loss, and vision loss in children 38 . cCMV infection can also perturb developmental processes in the fetal and neonatal brain resulting in abnormalities that overlap many congenital MIC syndromes including cortical dysgenesis, intracranial (predominantly periventricular) calcifications, dysgenesis of the corpus callosum, cerebellar hypoplasia with additional features as well such as ventriculomegaly, lenticulostriate vasculopathy, periventricular cystic malformations, and fetal brain sequence disruption or arrest syndrome 39–41 . Of note, intracranial calcifications, as seen with cCMV, CZS, and other in utero infections, may be underreported in our series as most children underwent brain imaging by MR which has limited sensitivity for their detection.…”

Section: Discussionmentioning

confidence: 99%

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ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

Thomas

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Robak

et al. 2022

Ann Clin Transl Neurol

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Objective: This study delineates the clinical and molecular spectrum of ANKLE2-related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus. Methods: We identified 12 individuals with MIC and variants in ANKLE2 with a broad range of features. Probands underwent thorough phenotypic evaluations, developmental assessments, and anthropometric measurements. Brain imaging studies were systematically reviewed for developmental abnormalities. We functionally interrogated a subset of identified ANKLE2 variants in Drosophila melanogaster. Results: All individuals had MIC (z-score ≤ À3), including nine with congenital MIC. We identified a broad range of brain abnormalities including simplified cortical gyral pattern, full or partial callosal agenesis, increased extra-axial spaces, hypomyelination, cerebellar vermis hypoplasia, and enlarged cisterna magna. All probands had developmental delays in at least one domain, with speech and language delays being the most common. Six probands had skin findings 1276

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

Thomas

Link

Robak

et al. 2022

Ann Clin Transl Neurol

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“…These sequelae data in asymptomatic infants continues to support the need for universal screening. Notably recent studies have shown that up to 50% of infants with asymptomatic cCMV have abnormal MRI brains in infancy (44,(52)(53)(54), which might indicate a subgroup of infants who may benefit from therapeutic intervention.…”

Section: Discussionmentioning

confidence: 99%

Delays in diagnosis and treatment initiation for congenital cytomegalovirus infection - Why we need universal screening

et al. 2022

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IntroductionCongenital cytomegalovirus (cCMV) is the leading cause of neurodevelopmental and hearing impairment from in-utero infection. Late diagnosis results in limited treatment options and may compromise long-term outcome.MethodsA retrospective audit of infants with cCMV referred to a Tertiary Pediatric Infectious Diseases center from 2012–2021. Data collected included timing of diagnostics, treatment initiation and reasons for delays.Results90 infants with confirmed cCMV were included, 46/90 (51%) were symptomatic at birth. Most common reasons for diagnostics in asymptomatic infants were failed newborn hearing screening (17/44, 39%) and antenatal risk-factors (14/44, 32%). Median age at cCMV diagnosis was 3 (range 0–68) and 7 (0–515) days, with median referral age 10 (1–120) and 22 (2–760) days for symptomatic and asymptomatic infants respectively. There was a significant risk of delay in diagnosis (>21 days) for asymptomatic infants [RR 2.93 (1.15–7.45); p = 0.02]. Of asymptomatic infants who received treatment, 13/24 (54%) commenced it within 28 days of life, a significant delay in treatment compared to 30/36 (83%) symptomatic infants [RR 2.75 (1.18–6.43); p = 0.02]. The commonest reason for delayed treatment initiation was delayed first diagnostic test for both symptomatic 4/6 (67%) and asymptomatic infants 9/11 (82%).ConclusionsDelays in diagnosis and treatment for cCMV are unacceptably frequent and significantly higher in asymptomatic infants. Our study highlights the need for increased awareness among healthcare professionals, reconsideration of age-targets for Newborn Hearing Screening, and research that addresses the barriers to implementation of universal screening, which would ultimately facilitate prompt diagnosis and management of all infants with cCMV.

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“…Cranial ultrasound and brain MRI are considered complementary tests. MRI is the most sensitive imaging to detect disorders of neuronal migration, cysts, ventricular dilatation or volume loss and abnormalities of white matter signal 20. Cranial ultrasound is more sensitive for the detection of calcification.…”

Section: Diagnosis Of Congenital CMV In Infants and Childrenmentioning

confidence: 99%

“…What investigations should be done to determine effect of congenital CMV on the infant?To assess for CMV-associated end organ disease, all infants should have the following performed: clinical examination, including growth parameters; diagnostic auditory brain stem responses; ophthalmological examination for retinitis or scarring; full blood count to assess bone marrow function; and renal and liver function tests.Cranial ultrasound and brain MRI are considered complementary tests. MRI is the most sensitive imaging to detect disorders of neuronal migration, cysts, ventricular dilatation or volume loss, and abnormalities of white matter signal [20]. Cranial ultrasound is more sensitive for the detection of calcification.…”

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confidence: 99%

Managing challenges in congenital CMV: current thinking

et al. 2022

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Congenital human cytomegalovirus (CMV) infection is the most common congenital infection, affecting around 1 in 200 infants in high-income settings. It can have life-long consequences for up to one in four children, including sensorineural hearing loss and neurodisability. Despite the frequency of congenital CMV and the severity for some children, it is a little-known condition by pregnant women, families and healthcare providers. Timely diagnosis of CMV infection in pregnancy is important to facilitate consideration of treatment with valaciclovir, which may reduce the risk of transmission to the fetus or reduce the severity of the outcomes for infected infants. Recognition of features of congenital CMV is important for neonatologists, paediatricians and audiologists to prompt testing for congenital CMV within the first 21 days of life. Early diagnosis gives the opportunity for valganciclovir treatment, where appropriate, to improve outcomes for affected infants. Further research is urgently needed to inform decisions about antenatal and neonatal screening, long-term outcomes for asymptomatic and symptomatic infants, predictors of these outcomes and optimal treatment for women and infants.

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Diagnostic analysis of baseline brain MRI features in infants with congenital cytomegalovirus infection: a simplified scoring system

Cited by 9 publications

References 23 publications

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

Delays in diagnosis and treatment initiation for congenital cytomegalovirus infection - Why we need universal screening

Managing challenges in congenital CMV: current thinking

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