Periventricular Calcifications Research Articles

Short- and long-term neurological outcomes of congenital cytomegalovirus infection.

Cytomegalovirus (CMV) is the most common congenital viral infection. Although most children with congenital CMV (approximately 85%-90%) are asymptomatic at birth, findings such as sensorineural hearing loss, microcephaly, and neurodevelopmental retardation can be observed during the follow-up. Among the brain magnetic resonance imaging (MRI) findings of CMV are white matter abnormalities, polymicrogyria, and periventricular calcification. Since a definitive diagnosis of congenital CMV cannot be made after the neonatal period, the identification of the associated phenotype is diagnostically important, but data are limited in patients who have been retrospectively diagnosed with congenital CMV infection. The aim of this study was to evaluate the short- and long-term neurological follow-up results of congenital CMV infections in a tertiary hospital. The neurological results of fifteen patients under the age of 18 years, who had a definitive diagnosis of congenital CMV infection and were followed up in a tertiary care hospital between 2011 and 2020, were retrospectively evaluated. Ten of the patients in our study group were male. The mean age at presentation for neurological evaluation was 2.02 ± 1.54 months, with a median follow-up time of 36.3 months (range: 9.3-129.4 months). Neurological disorders detected during the long-term follow-up included cerebral palsy (46.7%), cognitive impairment (46.7%), epilepsy (40%), and sensorineural hearing loss (26.7%). The most common abnormality observed on MRI scans was white matter involvement (53.3%). Early diagnosis and intervention are crucial in congenital CMV infection, as it commonly results in neurological involvement among the patients in our series. This preventable condition warrants further research regarding prenatal/neonatal screening.

A descriptive overview of cases of congenital cytomegalovirus at a tertiary hospital between 2017 and 2023

Cytomegalovirus infection (CMV) is the most common congenital infection in developed countries. The aim of our study was to describe the features of the children that have congenital CMV infection at our hospital for the last 6 years. A retrospective descriptive study was designed that included all the children with CMV congenital infection that were diagnosed at tertiary hospital of Madrid Community between 2017 and 2023. Twenty-two children were included. 54.5% have a prenatal diagnosis, 50% of them were in the third trimester, 25% at first trimester and 25% at the second. 22.7% were preterm. CMV was isolated in all the samples with CV more than 1000 copies/ml. When CMV was made in blood, 11/22 (50%) had a high CV. Only one newborn had a high CV at CRL. 44% have affectation at transfontanellar ultrasound evidenced by vasculopathy (62%), intraventricular hemorrhage (IVH) or periventricular calcifications (20%). 68% were asymptomatic, al though 20% had a retarded intrauterine growth (RIG) at birth or clinical features or analytical were objectified (neutropenia, thrombocytopenia, cholestasis). 33% got treatment with val ganciclovir and 33% had sequelae (hearing loss). CMV congenital infection is still a severe public health issue in developed countries. Most of the cases are mild or asymptomatic even though we should have high clinical suspicion with compatible symptoms and consistent maternal history in order to make an early diagnosis and treatment to prevent or reduce sequelae.

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome

Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype including also central nervous system and ocular abnormalities. We report a sister and brother with different expression of the phenotype. Both were compound heterozygous pathogenic variants in the DOCK6 gene, including a heterozygous c.5939+2T > C intronic variant that was maternally inherited, and a heterozygous deletion of exons 10 to 21 that was paternally inherited. The sister had microcephaly, periventricular calcifications, minor retinal vasculopathy, and mild impaired neurodevelopment, but only very subtle limb abnormalities and no ACC. Her brother showed a classical DOCK6-related AOS phenotype, including a severe bilateral peripheral ischemic retinopathy. From a review of 22 molecularly confirmed cases with DOCK6-related AOS with ophthalmic examination, we found that 16 of them had retinal vascular pathology (72.7%), confirming as the major ocular anomaly. Documented intrafamilial variability in our family and the evidence revised from previous reports, confirm that AR DOCK6-related AOS expressivity can produce a “milder” phenotype without ACC or TTLD, which could be underdiagnosed in simplex cases because it is difficult to recognize out of a familial context. Therefore, in order to know its real magnitude is required the future inclusion of DOCK6 gene in NGS panels directed to the study of simplex cases of patients with microcephaly, periventricular calcifications, retinal vasculopathy, and/or cardiovascular defects.

Lymphocytic choriomeningitis virus: An under-recognized congenital teratogen.

BACKGROUNDLymphocytic choriomeningitis virus (LCMV) is a neglected rodent-borne arenavirus associated with transplacental transmission and fetal infection. AIMTo summarize the epidemiological, clinical, and diagnostic features of reported patients with congenital LCMV infection.METHODSA literature search was conducted in PubMed, Medline, Google Scholar, and ResearchGate. The keywords used were ‘congenital lymphocytic choriomeningitis virus,’ and 48 studies were included. In addition, we conducted a relevant search by Reference Citation Analysis (RCA) (https://www.referencecitationanalysis.com).RESULTSThe results have shown 27 reports of congenital LCMV infection in 86 patients, with 52.73% of them being males. Patients presented with chorioretinitis (83.53%), hydrocephalus (54.12%), and psychomotor retardation or developmental delay (54.12%). Computed tomography and/or magnetic resonance imaging most often demonstrated ventriculomegaly (74.07%), periventricular calcifications (66.67%), and microcephaly (40%). Most mothers of congenitally infected infants were exposed to rodents during pregnancy, predominantly mice, with flu-like symptoms mainly occurring during the first two trimesters of gestation. Mortality in congenitally infected children was 16.47%. The diagnosis of congenital LCMV infection was confirmed serologically in most patients (86.67%).CONCLUSIONLCMV is still an insufficiently recognized fetal teratogen that often leads to long-term neurologic sequelae. Clinicians need to be familiar with LCMV and its potential teratogenic effect and as well as to effectively differentiate LCMV from other TORCH (T: Toxoplasma gondii, O: Other pathogens, R: Rubella virus, C: Cytomegalovirus, H: Herpes simplex virus) pathogens.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.

Anatomical and diffusion-weighted imaging of brain abnormalities in third-trimester fetuses with cytomegalovirus infection.

In this study of cytomegalovirus (CMV)-infected fetuses with first-trimester seroconversion, we aimed to evaluate the detection of brain abnormalities using magnetic resonance imaging (MRI) and neurosonography (NSG) in the third trimester, and compare the grading systems of the two modalities. We also evaluated the feasibility of routine use of diffusion-weighted imaging (DWI) fetal MRI and compared the regional apparent diffusion coefficient (ADC) values between CMV-infected fetuses and presumed normal, non-infected fetuses in the third trimester. This was a retrospective review of MRI and NSG scans in fetuses with confirmed first-trimester CMV infection performed between September 2015 and August 2019. Brain abnormalities were recorded and graded using fetal MRI and NSG grading systems to compare the two modalities. To investigate feasibility of DWI, a four-point rating scale (poor, suboptimal, good, excellent) was applied to assess the quality of the images. Quantitative assessment was performed by placing a freehand drawn region of interest in the white matter of the frontal, parietal, temporal and occipital lobes and the basal ganglia, pons and cerebellum to calculate ADC values. Regional ADC measurements were obtained similarly in a control group of fetuses with negative maternal CMV serology in the first trimester, normal brain findings on fetal MRI and normal genetic testing. Fifty-three MRI examinations of 46 fetuses with confirmed first-trimester CMV infection were included. NSG detected 24 of 27 temporal cysts seen on MRI scans, with a sensitivity of 78% and an accuracy of 83%. NSG did not detect abnormal gyration visible on two (4%) MRI scans. Periventricular calcifications were detected on two MRI scans compared with 10 NSG scans. While lenticulostriate vasculopathy was detected on 11 (21%) NSG scans, no fetus demonstrated this finding on MRI. MRI grading correlated significantly with NSG grading of brain abnormalities (P < 0.0001). Eight (15%) of the DWI scans in the CMV cohort were excluded from further analysis because of insufficient quality. The ADC values of CMV-infected fetuses were significantly increased in the frontal (both sides, P < 0.0001), temporal (both sides, P < 0.0001), parietal (left side, P = 0.0378 and right side, P = 0.0014) and occipital (left side, P = 0.0002 and right side, P < 0.0001) lobes and decreased in the pons (P = 0.0085) when compared with non-infected fetuses. The ADC values in the basal ganglia and the cerebellum were not significantly different in CMV-infected fetuses compared with normal controls (all P > 0.05). Temporal and frontal ADC values were higher in CMV-infected fetuses with more severe brain abnormalities compared to fetuses with mild abnormalities. Ultrasound and MRI are complementary during the third trimester in the assessment of brain abnormalities in CMV-infected fetuses, with a significant correlation between the grading systems of the two modalities. On DWI in the third trimester, the ADC values in several brain regions are abnormal in CMV-infected fetuses compared with normal controls. Furthermore, they seem to correlate in the temporal area and, to a lesser extent, frontal area with the severity of brain abnormalities associated with CMV infection. Larger prospective studies are needed for further investigation of the microscopic nature of diffusion abnormalities and correlation of different imaging findings with postnatal outcome. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Congenital lymphocytic choriomeningitis virus: A review.

Lymphocytic choriomeningitis virus (LCMV) uses rodents such as mice and hamsters as its principal reservoir. When women acquire LCMV during pregnancy because of contact with rodents, it can lead to congenital LCMV infection, which is associated with high mortality and morbidity. Although the number of cases reported in the literature is increasing, LCMV is rarely mentioned because a history of exposure to rodents is uncommon and mostly unknown. The main objective of this article was to summarize all morphological, antenatal, and postnatal abnormalities that may suggest a congenital LCMV infection. We reviewed PubMed case reports and case series where an antenatal and/or a postnatal description of at least one case of congenital LCMV infection was documented. We found 70 cases of congenital LCMV infection, 68 of which had antenatal or postnatal brain abnormalities, which were mainly chorioretinitis (59/70), hydrocephaly (37/70), microcephaly (22/70), ventriculomegaly (11/70) and periventricular calcifications (11/70). Antenatal and postnatal extracerebral abnormalities were mainly small for gestational age, ascites, cardiomegaly or anemia. Other organ damage was rare, but could include skin abnormalities, hydrops or hepatosplenomegaly. Seventy percent (49/70) of cases had major cerebral abnormalities that could have been detected by antenatal ultrasound examination. Congenital LCMV infection is associated with a significant mortality rate (30%) and survivors often have severe neurologic sequelae. LCMV is a rare congenital infection, but awareness of the various prenatal ultrasound morphological abnormalities should be improved, and LCMV should be considered when first-line etiological explorations are negative, especially when the mother's medical history indicates exposure to rodents.

Congenital Cytomegalovirus

Congenital Cytomegalovirus

Клінічний випадок природженої CMV-нейроінфекції в дитини з вибірковим дефіцитом IgA

Вважають, що природжена CMV-інфекція має місце щонайменше у 1 % немовлят, хоча результати останніх клінічних досліджень вказують на питому вагу зазначених уражень на рівні 8 % випадків серед усіх новонароджених. Тяжкість клінічних симптомів ураження нервової системи CMV-етіології залежить від терміну внутрішньоутробного інфікування. При ранньому інфікуванні, протягом першого триместру внутрішньоутробного періоду, коли відбувається закладка головного мозку, розвиваються тяжкі вади центральної нервової системи, включаючи аненцефалію, поренцефалію, шизенцефалію, лісенцефалію, мікрополігірію та пахігірію. При більш пізньому зараженні, протягом 2–3-го триместру вагітності, відзначають більш легкі прояви: вентрикуломегалію, порушення мієлінізації білої речовини мозку, кісти в полюсах скроневих часток, гіпогенезію мозолистого тіла, перивентрикулярні кальцифікати та ураження кохлеовестибулярних нервів. В статті наведено історію хвороби хлопчика віком 5 років з типовими клініко-інструментальними ознаками природженої CMV-інфекції. У дитини відзначались глибокий спастичний тетрапарез, тяжка затримка психомовленнєвого розвитку, рефрактерний епілептичний синдром із поліморфними нападами, порушення роботи тазових органів, унеможливлення самостійного пересування. МРТ головного мозку демонструвала типові радіологічні ознаки природженої CMV-інфекції: кортикальну атрофію, вентрикуломегалію, перивентрикулярний гліоз, поля демієлінізації в білій речовині півкуль, кісти в полюсах скроневих часток, гіпоплазію мозолистого тіла. Протягом періоду новонародженості відзначалися специфічні IgM до СMV у сироватці крові. ПЛР лейкоцитів крові виявила ДНК СMV у дитини в 5-річному віці на момент звернення в клініку за медичною допомогою. Ця інфекція призводила до генералізованої лімфаденопатії, гепатоспленомегалії, тромбоцитопенії та лімфомоноцитозу. Оцінка імунного статусу показала наявність вибіркового дефіциту IgA, з чим пов’язали розвиток цієї опортуністичної інфекції. Обговорені типові помилки при клінічному веденні дітей із природженою CMV-інфекцією та шляхи їх уникнення.

Hepatosplenomegaly and Periventricular Cyst in a Neonate with Direct Hyperbilirubinemia

Hepatosplenomegaly and Periventricular Cyst in a Neonate with Direct Hyperbilirubinemia

Intracranial Calcifications and Ocular Abnormalities in a Child with Neurodevelopmental Delay

A patient with neurodevelopmental delay and an unremarkable prenatal and birth history presented postnatally with congenital cataracts and neuroanatomical abnormalities including periventricular calcifications, porencephaly, and cerebellar hypoplasia. Although there was initial suspicion for a TORCH infection including cytomegalovirus, further genetic testing revealed a novel <em>COL4A1</em> mutation, which involves type 4 collagen alpha 1 chain, an important component of vasculature.

Could prevention of infantile spasms have been possible in a historical cohort of 31 tuberous sclerosis patients?

The present study was carried out to evaluate whether prevention could have been realistic. A retrospective analysis by hospital chart review of 31 patients with TSC and infantile spasms (practically all patients) admitted to two tertiary hospitals, Children's Hospital, University of Helsinki and Kuopio in 1980-2000. Clinical history, early cognitive development, early clinical signs of TSC, clinical signs of suspicious seizures, first seizures and EEG, response to adrenocorticotropic hormone (ACTH) therapy, EEG and brain imaging were evaluated. Early development prior the spasms was apparently normal in 25 (80%). The first EEG ever performed for a child showed hypsarrhythmia in 16 (51%) or modified hypsarrhythmia in 10 (32%). Treatment lag was short (0-4, mean 2 weeks) and the primary response to ACTH favorable in 19 (64%). Etiological diagnostic workup of IS revealed TSC. In one single case (3%) the diagnosis of TSC could be made at birth due to a congenital cardiac rhabdomyoma. Three other rhabomyomas were diagnosed later. In brain imaging, subependymal periventricular calcifications or hypodense areas were seen in every patient at onset of IS. Other organ manifestations of TSC were retinal phakomas (6), polycystic kidneys (2), and renal angiolipomatosis (1). Preventive treatment of epileptic discharges could have been possible in a single case of neonatal rhabdomyoma suggesting that preventive treatment is challenging in everyday practice. The main obstacle is the delay of TSC diagnosis.

A CASE REPORT OF CYTOMEGALOVIRUS ASSOCIATED ANOPHTHALMIA IN A PRETERM INFANT

PURPOSE: Cytomegalovirus belongs to the family of Herpesviridae, also known as HHV-5. The ocular manifestations of congenital cytomegalovirus infection include chorioretinitis, microphthalmos/anophthalmos, keratitis, cataract and optic atrophy. Anophthalmia is a condition in which there is a complete absence of any visible globe structure, though a microphthalmic remnant or cyst maybe present. MATERIALS AND METHODS: A 20 day old preterm baby born at 35 weeks with a birth weight of 2kg presented to the Ophthalmology OPD with microcephaly. No jaundice or hepatosplenomegaly was seen. An ocular examination showed left sided anophthalmia and coloboma iris of RE. USG orbit of left side revealed an ill- defined cystic lesion within the orbital fossa. Real time-PCR done on the sample of the infant was positive for CMV virus. A CT scan was done which showed no periventricular calcification. RESULTS: Congenital cytomegalovirus is associated with a high incidence of eye abnormalities and this infant showed findings consistent with CMV in infants.

Lymphocytic Choriomeningitis-Emerging Trends of a Neglected Virus: A Narrative Review.

Lymphocytic choriomeningitis virus (LCMV) is a neglected rodent-borne zoonotic virus distributed worldwide. Since serologic assays are limited to several laboratories, the disease has been underreported, often making it difficult to determine incidence and seroprevalence rates. Although human clinical cases are rarely recorded, LCMV remains an important cause of meningitis in humans. In addition, a fatal donor-derived LCMV infection in several clusters of solid organ transplant recipients further highlighted a pathogenic potential and clinical significance of this virus. In the transplant populations, abnormalities of the central nervous system were also found, but were overshadowed by the systemic illness resembling the Lassa hemorrhagic fever. LCMV is also an emerging fetal teratogen. Hydrocephalus, periventricular calcifications and chorioretinitis are the predominant characteristics of congenital LCMV infection, occurring in 87.5% of cases. Mortality in congenitally infected children is about 35%, while 70% of them show long-term neurologic sequelae. Clinicians should be aware of the risks posed by LCMV and should consider the virus in the differential diagnosis of aseptic meningitis, especially in patients who reported contact with rodents. Furthermore, LCMV should be considered in infants and children with unexplained hydrocephalus, intracerebral calcifications and chorioretinitis. Despite intensive interdisciplinary research efforts, efficient antiviral therapy for LCMV infection is still not available.

Primary Hypoparathyroidism and Chronic Kidney Disease: Is It Always Related to Treatment?

Abstract Background: Anterior neck surgery is the leading cause of acquired hypoparathyroidism. Renal failure is the most common complication of treatment for hypoparathyroidism with active vitamin D and calcium supplements. However, the contribution of hypoparathyroidism to development of CKD in the absence of treatment is not well studied. Clinical Case: A 70-year old woman was brought to ED after she was found on the floor at home. Medical history was significant only for a partial thyroidectomy over 20 years prior, without reported post-operative complications. She was not taking any medications. Pertinent physical findings included altered mental status, hand tremors, involuntary contractions of left arm, and ashen skin. Laboratory tests upon presentation were significant for profoundly low albumin-corrected calcium of 3.68 mg/dL (n 8.6–10.2 mg/dL); low PTH 9.9 pg/dL (n 15–65 pg/dL); elevated phosphorous 8.5 mg/dL (n 2.7–4.5 mg/dL), elevated BUN 36 mg/dL (n 8–22 mg/dL), creatinine 2.76 mg/dL (n 0.5–1.3 mg/dL) and elevated CK of 4787 U/L (n 10–225 U/L). EKG showed QT interval prolongation. Head CT revealed periventricular and basal ganglia calcifications. Renal US was normal. The patient was treated with IV and PO calcium acetate and active vitamin D with resolution of the symptoms while calcium level improved. Post hospital follow-ups were significant for persistent hyperphosphatemia, which gradually improved with calcium and non-calcium phosphate binders as well as active vitamin D. Although this patient presented with acute hypocalcemia, she had chronic hypoparathyroidism as evidenced by basal ganglia calcifications. In the absence of other medical conditions, including negative PTH antibodies, or treatment for chronic hypoparathyrodism, the most likely cause of the CKD was chronic hypoparathyroidism itself. Conclusion: Post-surgical hypoparathyroidism may develop many years after surgery and can be asymptomatic. It is essential to diagnose this condition early to avoid late complications of the disease. The kidneys are particularly affected. Conventional treatment with calcium and vitamin D analogues is associated with ectopic mineralization and can lead to CKD. Untreated hypoparathyroidism on the other hand, can also lead to CKD, posing therapeutic challenges on finding the most appropriate and balanced treatment regimen in order to prevent further renal complications. Close monitoring and optimizing therapy plays critical role in preserving renal function of patients with hypoparathyroidism.

Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India.

Background Cytomegalovirus (CMV) is a ubiquitous herpes virus. It is the most common congenital viral infection. Data on congenital CMV in India are lacking and hence the present study was undertaken. Objectives The aim of the study is to evaluate the clinical and radiological profile of neurological manifestations of congenital CMV infections in tertiary care hospital. Methods This is a retrospective chart review of the clinical and laboratory profile of congenital CMV infections presenting from January 2018 to February 2020 to a tertiary care hospital in Southern India. Details of clinical profile, serological and neuroimaging data were obtained and analyzed. Results A total of 42 cases with female preponderance (57%) were reported during the study period. The mean age of presentation was 2.9 years. Clinical features were developmental delay (81%), microcephaly (93%), seizures (33%), intrauterine growth restriction (19%), neonatal encephalopathy (10%), anemia (9%), jaundice (10%), hepato-splenomegaly (7%), and eye abnormalities (14%). Antenatal maternal fever was reported by 12%. Sensorineural hearing loss was present in 57%. Neuroimaging showed periventricular calcification (79%), cerebral atrophy (69%), ventricular dilatation (55%), malformations (26%), dysmyelination (12%), and temporal lobe cysts (5%). CMV-immunoglobulin-M positivity was seen in 14 cases (33%), urinary polymerase chain reaction for CMV was positive in 21 cases (50%), and clinical diagnosis was done in seven cases (16%). Conclusion Common findings in congenital CMV are microcephaly, developmental delay, seizures, anemia, and sensorineural hearing loss. Common neuroimaging findings are periventricular calcification, cerebral atrophy, malformation, white matter signal changes, and cysts. CMV can mimic like cerebral palsy, malformations of the brain, demyelinating disorders, and calcified leukoencephalopathies like Aicardi-Goutières syndrome.

Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes

This study presents a correlation between prenatal ultrasonographic images and neuropathologic findings of postmortem tissue samples from five confirmed cases of perinatal Zika virus (ZIKV) infection belonging to the cohort of the ZEN Initiative in Bucaramanga, Colombia. Deaths occurred between June 2016 and March 2017. Mothers consulted with ZIKV infection clinical manifestations or fetal central nervous system (CNS) abnormalities or both. A detailed ultrasound scan and neurosonographic protocol was performed by maternal fetal specialists. Perinatal autopsies were performed following the Colombian National Health Institute's ZIKV protocol. The autopsies were from two fetal deaths, and three early neonatal deaths. Gestational age was between 262/7 and 382/7 weeks. Two cases were classified as mild microcephaly. Few findings by ultrasound and pathology were found in case 1 because it was a late infection; the other cases presented findings corresponding to congenital Zika syndrome: craniofacial malformations, cerebellar hypoplasia, anomalies of the corpus callosum and ventriculomegaly, all confirmed in autopsy specimens. By ultrasonography, hyperechogenicities were seen in several brain structures, which correspond to cortical and periventricular calcifications, subependymal glial reactivity and perivascular rings. The ultrasound and pathological findings show a wide spectrum of CNS anomalies that confirm the neurotropic effect of the ZIKV, recognizing the neuroimaging findings of this disease (unilateral ventriculomegaly, alterations in the corpus callosum and cerebellum, and calcifications) are highly suggestive of ZIKV infection.

P18.10: Imaging findings of congenital toxoplasmosis, cytomegalovirus and Zika virus infections

Toxoplasmosis (TOXO), cytomegalovirus (CMV), and Zika vírus (ZIKV) are among the common infectious agents that may infect the fetuses vertically. Clinical presentations of these congenital infections overlap significantly, and it is usually impossible to determine the causative agent clinically. The objective was the comparison of imaging findings in fetuses who underwent intrauterine infection by toxoplasmosis, CMV, and ZIKV. Confirmed cases of TOXO (2), CMV (3), and ZIKV (7) infections were included in the study over 10 months prospectively. Prenatal ultrasound (US), fetal magnetic resonance imaging (MRI), and postnatal neuroimaging (CT or MRI) were performed on all of the included cases and interpreted by an expert radiologist. The main neuroimaging findings in congenital toxoplasmosis were randomly distributed brain calcifications and ventricular dilatation on US, as well as white matter signal change on fetal brain MRI. The main neuroimaging findings of congenital CMV infection included microcephaly, ventriculomegaly and periventricular calcifications on US, as well as pachygyria revealed by fetal MRI. The case of congenital ZIKV infection showed microcephaly, ventriculomegaly, and periventricular calcifications on US, as well as brain atrophy and brain surface smoothness on fetal MRI. Increased placental thickness, hyperechogenic bowel, ascites and oligohydramnios were found CMV (1) and toxoplasmosis (1). IUGR was found in a CMV (2) and toxoplasmosis (1). Arthrogryposis was found in one case of ZIKV. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Congenital Cytomegalovirus Infection Presenting as Pneumonia with Respiratory Distress and Thrombocytopenia

Human Cytomegalovirus (CMV) is a member of Herpes viridae family, that affects most of the human population at some stage of live and is the most common congenital infection causing sensorineural hearing loss and neurodevelopmental delay in newborn. CMV infection may be acquired in a newborn congenitally or after delivery, but except for the congenital infection, other mode of infection rarely result in significant symptoms or sequel in them. Clinical findings of congenital CMV infection include IUGR, hydrops, generalized petechiae, purpura, thrombocytopenia, jaundice, hepatosplenomegaly, pneumonitis, microcephaly, periventricular calcifications, seizures, chorioretinitis, sensorineural hearing loss, bone abnormalities, abnormal dentition, and hypocalcified enamel. Here we present a case of congenital CMV infection who presented with Pneumonia with Respiratory distress and thrombocytopenia. A single, live, term, female child delivered at home developed low grade fever, cough and increased oral secretion at 28 day of life and was initially diagnosed as Pneumonia with respiratory distress with thrombocytopenia. Mother and child, both were investigated for TORCH infection which came out to be positive for CMV infection (child’s serum CMV Ab IgM 94 U/ml). Her CMV Viral Load Real Time PCR tested positive with 56380 copies/ml.

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature

BackgroundAs the number of children with Zika virus-related complications grows, the long-term developmental trajectory and its effects on families are unknown. We present the first known case of congenital Zika syndrome seen at our institution with significant fundus findings.Case presentationA 3-day-old Hispanic baby girl presented with severe microcephaly of 24 cm and temperature instability at birth. Her mother had traveled to Honduras early in pregnancy and testing of amniotic fluid was positive for Zika virus via polymerase chain reaction. A dilated fundus examination was significant for bilateral severe colobomatous chorioretinal atrophy of the macula and pigmentary changes. Neonatal magnetic resonance imaging revealed diffuse lissencephaly with decreased brain volume, atrophic corpus callosum and brainstem, periventricular calcifications, and ventriculomegaly of the lateral ventricles.ConclusionsOur patient, who presented with the first known case of congenital Zika syndrome in Northern Florida, demonstrated profound bilateral colobomatous chorioretinal atrophy of the macula. The ophthalmologic findings along with severe microcephaly emphasize the neurotropism of the Zika virus, and ultimately are indicative of poor developmental and visual prognosis for affected infants. With the increased prevalence of Zika virus, ophthalmologists should be aware of the associated findings and the importance of an eye-screening examination with a dilated fundus examination within 1 month of life of infants in which congenital Zika syndrome is suspected. A multidisciplinary care approach is essential for the care of affected infants and their families.