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Table 8.3 (continued)
Study/
Reference
number
Resende
etal.
(2010)
[40]
ABR indicates auditory brainstem responses, BAEP brainstem auditory evoked potentials, CSF
cerebrospinal uid, Ig immunoglobulin
a
Adapted and modied from Ref. [31, 33, 40]
Number
of cases
106 Toxoplasma-IgM
Diagnostic
criterion Treatment Audiometric test
positivity in
infants’ dry blood
samples,
conrmatory
serum tests, and
Toxoplasmaspecic IgG
persistence
>12months
12months Behavioral
audiometry, ABR,
otoacoustic
emission, and
tympanometry
E. Kepenekli et al.
Prevalence of
hearing loss
12.3%
conductive
hearing loss in
13/106, 3.8%
sensory-
neural hearing
loss (4/106),
and 27.4%
central
hearing
abnormality
(29/106)
In a study by McGee etal. [32], 30 infants with congenital toxoplasmosis were
treated for 1year and followed up prospectively. The infants’ hearing was monitored by an auditory brainstem response (ABR) test and behavioral audiometry.
Although half of the patients had severe end-organ involvement, such as hydrocephalus, chorioretinitis, and systemic illness, the audiometry tests were normal and
consistent with the ages of the cases. The authors concluded that these positive
results are related to the timely and adequate administration of antimicrobial treatment. The authors also recommended that infants with congenital toxoplasmosis be
closely followed-up for hearing between the ages of 6months and 2years, which is
considered the critical period for language acquisition.
McLeod etal. [39] conducted a prospective multicenter study to detect the longterm effects of congenital toxoplasmosis. They reported that 68 children with congenital toxoplasmosis developed HL with appropriate and adequate antimicrobial
therapy. They concluded that early diagnosis and long-term treatment positively
affect neurocognitive functions and vision (Table8.3).
Andrade etal. [37] followed all newborns born in Belo Horizonte, Brazil, for
1 year with serological diagnostic methods (T. gondii-specic IgM and/or IgA).
They detected congenital toxoplasmosis in 20 of 30,808 newborns (1/1590). One of
these 20 newborns, diagnosed with congenital toxoplasmosis, died due to systemic
disease in the early period. The hearing of the other infants was tested with behavioral audiometry, otoacoustic emission, and brainstem evoked responses audiometry (BERA), and HL was detected in four (21.1%) infants (Tables 8.2 and 8.3). One
of these four infants had other risk factors for HL.The HL in the other three infants
was attributed only to toxoplasmosis. Contrary to the literature, HL persisted in two
infants despite receiving timely and adequate antimicrobial therapy composed of
pyrimethamine, sulfadiazine, and folinic acid for 12months.
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Resende etal. [40] reported that 106 infants with congenital toxoplasmosis were
followed up. Antiparasitic treatment was started before 2.5months old, and detailed
hearing tests, including tympanometry, transient evoked otoacoustic emissions, distortion product otoacoustic emissions, behavioral observation audiometry, and
brainstem auditory evoked potentials, were performed. Normal hearing in 60 children (56.6%), conductive HL in 13 children (12.3%), sensorineural HL (SNHL) in
4 children (3.8%), and central hearing abnormality in 29 children (27.4%) were
detected. The authors emphasized that hearing and language problems can be seen
in congenital toxoplasmosis despite early diagnosis and treatment.
Fontes etal. [41] reported that children with congenital toxoplasmosis have a ve
times higher risk of abnormality in the brainstem auditory evoked potential test and
higher latency of wave V. In the study conducted by Al-Amari etal. [42] in Saudi
Arabia, 50 infants, aged 11–30months, followed up with the diagnosis of congenital
HL were compared with the age-matched control group. Toxoplasma- specic IgG
positivity was signicantly higher in infants with hearing loss. Potasman etal. [43], in
a similar study in Israel, screened the Toxoplasma-specic IgG levels of 109 patients
aged 1–15years and followed up with the diagnosis of idiopathic epilepsy, cerebral
palsy, and deafness. The seropositivity was 2.5 times higher in the disease group compared to the control group, and the relative risk ratio for hearing abnormality was 7.1.
In a meta-analysis, 114 cases of congenital toxoplasmosis in 5 longitudinal studies analyzed were divided into no or short-term treatment, treated for 12months but
started after 2.5months, and treated for 12months but started before 2.5months of
age groups [31]. Hearing loss developed in these groups at 28%, 12%, and 0%,
respectively (Table8.3).
In 2018, Corrêa etal. [33], in a review summarizing eight research articles published between 1980 and 2015, reported that 3.8–30% of HL due to congenital
toxoplasmosis are of the sensorineural type and 10–20% of the conductive type. No
SNHL was encountered in one of the studies reviewed [39].
Studies focused on congenital toxoplasmosis report that early diagnosis and
appropriate antimicrobial therapy for 12months effectively reduce hearing damage.
The risk of HL is low when adequate and timely treatment (before 2.5months) is
started in cases with congenital toxoplasmosis. However, the hearing should be
monitored closely, especially in cases where treatment was started late, inadequate,
or not given [6, 31].
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8.13 Conclusion
Congenital toxoplasmosis, reported with different rates in different geographical
regions, is an important intrauterine infection. It is mostly asymptomatic but may
cause severe end-organ damage. The most critical factors determining the rate of
congenital toxoplasmosis in society are hygiene behaviors, the knowledge and
awareness of pregnant women about toxoplasmosis, the dominant T. gondii strains
in the geographical region, and whether pregnant women and/or newborn screening
for toxoplasmosis is performed.
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E. Kepenekli et al.
If maternal T. gondii infection occurs early in pregnancy, the possibility of
transplacental transmission to the fetus is low. However, severe illness is more
likely when the fetus is infected early in pregnancy. Suppose an acute maternal
toxoplasmosis infection diagnosis is made, early and appropriate antimicrobial
therapy should be started, and microbiological and radiological tests should be
planned to determine whether the fetus is affected. Infants with congenital toxoplasmosis usually remain asymptomatic. However, both symptomatic and asymptomatic infants should be followed up for long-term sequelae, such as
chorioretinitis, motor mental retardation, growth retardation, and HL.Hearing
loss is an important but sometimes overlooked complication of congenital toxoplasmosis. The rate of HL in infants with congenital toxoplasmosis is 0–30%.
Studies reported that appropriate and early (within the rst 10 weeks of life)
antimicrobial treatment could reduce the HL rate. Since the sensitivity of commonly used routine hearing screening tests is relatively low, ABR should be preferred for hearing screening in infants with congenital toxoplasmosis. Early
diagnosis and treatment of HL can improve the affected infant’s psychosocial,
motor, and intellectual development.
References
1. Joint Committee on Infant Hearing. The year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Am J Audiol. 2000;9:9–29.
2. White KR.Early hearing detection and intervention programs: opportunities for genetic services. Am J Med Genet. 2004;130:29–36.
3. De Leenheer EM, Janssens S, Padalko E, Loose D, Leroy BP, Dhooge IJ.Etiological diagnosis
in the hearing impaired newborn: proposal of a ow chart. Int J Pediatr Otorhinolaryngol.
2011;75:27–32.
4. American Academy of Pediatrics, Joint Committee on Infant Hearing (JCIH). The year 2019
position statement: principles and guidelines for early hearing detection and intervention programs. J Early Hearing Detect Intervent. 2019;4(2):1–44. https://digitalcommons.usu.edu/cgi/
viewcontent.cgi?article=1104&context=jehdi. Accessed 30 Dec 2022.
5. Peyron F, Wallon M, Kieffer F, Garweg J.Toxoplasmosis. In: Wilson CB, Nizet V, Maldonado
YA, Remington JS, Klein JO, editors. Remington and Klein’s infectious diseases of the fetus
and newborn infant. 8th ed. Philadelphia: Elsevier; 2016. p.949–1042.
6. Guerina NG, Marquez L. Congenital toxoplasmosis: clinical features and diagnosis. In:
Kaplan SL, Weisman LE, eds. UpToDate. Waltham: UpToDate (updated: Apr 20, 2022; literature review: Nov 2022). https://www.uptodate.com/contents/congenital- toxoplasmosis-
clinical- features- and- diagnosis. Accessed 30 Dec 2022.
7. Jenum PA, Kapperud G, Stray-Pedersen B, Melby KK, Eskild A, Eng J. Prevalence of
Toxoplasma gondii specic immunoglobulin G antibodies among pregnant women in Norway.
Epidemiol Infect. 1998;120:87–92.
8. Peyron F, Mc Leod R, Ajzenberg D, etal. Congenital toxoplasmosis in France and the United
States: one parasite, two diverging approaches. PLoS Negl Trop Dis. 2017;11:e0005222.
9. Torgerson PR, Mastroiacovo P.The global burden of congenital toxoplasmosis: a systematic
review. Bull World Health Organ. 2013;91:501–8.
10. Dubey JP, Murata FHA, Cerqueira-Cézar CK, Kwok OCH, Villena I. Congenital toxoplasmosis in humans: an update of worldwide rate of congenital infections. Parasitology.
2021;148:1406–16.
8 Congenital Toxoplasmosis andHearing Loss
https://t.me/medicina_free
11. Prusa AR, Kasper DC, Sawers L, Walter E, Hayde M, Stillwaggon E.Congenital toxoplasmosis in Austria: prenatal screening for prevention is cost-saving. PLoS Negl Trop Dis.
2017;11:e0005648.
12. Center for Disease Control and Prevention. Parasites: toxoplasmosis (Toxoplasma infec-
tion) (reviewed: Nov 10, 2020). https://www.cdc.gov/parasites/toxoplasmosis/biology.html.
Accessed 30 Dec 2022.
13. Black MW, Boothroyd JC. Lytic cycle of Toxoplasma gondii. Microbiol Mol Biol Rev.
2000;64:607–23.
14. Al-Malki ES.Toxoplasmosis: stages of the protozoan life cycle and risk assessment in humans
and animals for enhanced awareness and an improved socio-economic status. Saudi J Biol Sci.
2021;28:962–9.
15. American Academy of Pediatrics. Toxoplasma gondii infections. In: Kimberlin DW, Barnett
ED, Lyneld R, Sawyer MH, editors. Red book: 2021–2024 report of the committee on infectious diseases. 32nd ed. Itasca: American Academy of Pediatrics; 2021. p.767–75.
16. Boyer KM, Nadipuram SM.Toxoplasmosis. In: Cherry JD, Harrison GJ, Kaplan SL, Steinbach
WJ, Hotez PJ, editors. Feigin and Cherry’s textbook of pediatric infectious diseases. 8th ed.
Philadelphia: Elsevier; 2019. p.2208–23.
17. Mets MB, Holfels E, Boyer KM, etal. Eye manifestations of congenital toxoplasmosis. Am J
Ophthalmol. 1997;123:1–16.
18. Phan L, Kasza K, Jalbrzikowski J, etal. Longitudinal study of new eye lesions in children
with toxoplasmosis who were not treated during the rst year of life. Am J Ophthalmol.
2008;146:375–84.
19. SYROCOT (Systematic Review on Congenital Toxoplasmosis) Study Group, Thiébaut R,
Leproust S, Chêne G, Gilbert R.Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients’ data. Lancet. 2007;369(9556):115.
20. Rico-Torres CP, Vargas-Villavicencio JA, Correa D. Is Toxoplasma gondii type related to
clinical outcome in human congenital infection? Systematic and critical review. Eur J Clin
Microbiol Infect Dis. 2016;35:1079–88.
21. Guerina NG, Hsu HW, Meissner HC, etal. Neonatal serologic screening and early treatment
for congenital Toxoplasma gondii infection. The New England Regional Toxoplasma Working
Group. N Engl J Med. 1994;330:1858–63.
22. Hohlfeld P, Daffos T, Costa JM, Thulliez P, Forestier F, Vidaud M.Prenatal diagnosis of congenital toxoplasmosis with a polymerase-chain reaction test on amniotic uid. N Engl J Med.
1994;331:695–9.
23. McAuley J, Boyer KM, Patel D, etal. Early and longitudinal evaluations of treated infants and
children and untreated historical patients with congenital toxoplasmosis: the Chicago collaborative treatment trial. Clin Infect Dis. 1994;18:38–72.
24. Tiebaut R, Leproust S, Chene G, Gilbert R.Effectiveness of prenatal treatment for congenital
toxoplasmosis: a meta-analysis of individual patient’s data. Lancet. 2007;13(396):115–22.
25. Gandhi RJ.Toxoplasmosis in patients with HIV.In: Sax PE, Mitty J, eds. UpToDate. Waltham:
UpToDate, (updated: Mar 24, 2021; literature review: Nov 2022) https://www.uptodate.com/
contents/toxoplasmosis- in- patients- with- hiv. Accessed 30 Dec 2022.
26. Fishman JA, Alexander BD. Prophylaxis of infections in solid organ transplantation. In:
Blumberg EA, Bond S, eds. UpToDate. Waltham: UpToDate (updated: Jun 23, 2022; literature
review: Nov 2022). https://www.uptodate.com/contents/prophylaxis- of- infections- in- solid-
organ- transplantation. Accessed 30 Dec 2022.
27. Petersen E, Mandelbrot L.Toxoplasmosis and pregnancy. In: Simpson LL, Weller PF, eds.
UpToDate. Waltham: UpToDate, (updated: Mar 25, 2022; literature review: Nov 2022). https://
www.uptodate.com/contents/toxoplasmosis- and- pregnancy. Accessed 30 Dec 2022.
28. Mandelbrot L.Congenital toxoplasmosis: what is the evidence for chemoprophylaxis to prevent fetal infection? Prenat Diagn. 2020;40:1693–702.
29. Olariu TR, Remington JS, McLeod R, Alam A, Montoya JG.Severe congenital toxoplasmosis
in the United States: clinical and serologic ndings in untreated infants. Pediatr Infect Dis
J. 2011;30:1056–61.
115
116
https://t.me/medicina_free
30. Setian N, Andrade RS, Kuperman H, Manna TD, Dichtchekenian V, Damiani D.Precocious
puberty: an endocrine manifestation in congenital toxoplasmosis. J Pediatr Endocrinol Metab.
2002;15:1487–90.
31. Brown ED, Chau JK, Atashband S, Westerberg BD, Kozak FK.A systematic review of neonatal toxoplasmosis exposure and sensorineural hearing loss. Int J Pediatr Otorhinolaryngol.
2009;73:707–11.
32. McGee T, Wolters C, Stein L, etal. Absence of sensorineural hearing loss in treated infants
and children with congenital toxoplasmosis. Otolaryngol Head Neck Surg. 1992;106:75–80.
33. Corrêa CC, Maximino LP, Weber SAT.Hearing disorders in congenital toxoplasmosis: a literature review. Int Arch Otorhinolaryngol. 2018;22:330–3.
34. Salviz M, Montoya JG, Nadol JB, Santos F. Otopathology in congenital toxoplasmosis. Otol
Neurotol. 2013;34:1165–9.
35. Kelemen G.Toxoplasmosis and congenital deafness. AMA Arch Otolaryngol. 1958;68:547–61.
36. Wilson CB, Remington JS, Stagno S, Reynolds DW. Development of adverse squeal in children born with subclinical Toxoplasma infection. Pediatrics. 1980;66:767–74.
37. Andrade GM, Resende LM, Goulart EM, Siqueira AL, Vitor RWA, Januario JN. Hearing
loss in congenital toxoplasmosis detected by newborn screening. Braz J Otorhinolaryngol.
2008;74:21–8.
38. Stagno S, Reynolds DW, Amos CS, etal. Auditory and visual defects resulting from symptomatic and subclinical congenital cytomegaloviral and toxoplasma infections. Pediatrics.
1977;59:669–78.
39. McLeod R, Boyer K, Karrison T, et al.; Toxoplasmosis Study Group. The outcome of treatment for congenital toxoplasmosis, 1981-2004: the National Collaborative Chicago-based,
congenital toxoplasmosis study. Clin Infect Dis. 2006;42:1383–1394.
40. Resende LM, Andrade GMQ, Azevedo MF, Perissinoto J, Vieira ABC.Congenital toxoplasmosis: auditory and language outcomes in early diagnosed and treated children. Sci Med.
2010;20:13–9.
41. Fontes AA, Carvalho SADS, Andrade GMQ, Carellos EV, Romanelli RC, Resende LM.Study
of brainstem auditory evoked potentials in early diagnosis of congenital toxoplasmosis. Braz J
Otorhinolaryngol. 2019;85:447–55.
42. Al-Amari O, Kameswaran M. Toxoplasmosis and congenital sensorineural hearing loss in
Saudi Arabia. Ann Saudi Med. 1996;16:468–70.
43. Potasman I, Davidovitch M, Tal Y, Tal J, Zelnik N, Jaffe M.Congenital toxoplasmosis: a signicant cause of neurological morbidity in Israel. Clin Infect Dis. 1995;20:259–62.
E. Kepenekli et al.
Congenital Rubella Infection
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andHearing Loss
ZeynepGökçeGayretli Aydın, AyşeEnginArısoy,
andGailJ.Demmler-Harrison
9.1 Introduction
Rubella is generally mild, self-limited, and vaccine-preventable contagious viral
infection, mainly affecting children aged 2–12 years. Rubella virus infection is
specied with maculopapular rash, lymphadenopathy, and sometimes fever. Arthritis
might accompany rubella, especially in women, but is observed less in men and
children. Although rare, encephalitis can also develop during rubella infection,
more commonly in adults [1].
Many postnatal rubella infections are subclinical and asymptomatic. However,
pregnant women in their rst trimester with rubella infection might experience miscarriage, stillbirth, and even congenital disabilities of the fetus, known as congenital
rubella syndrome (CRS) [2].
Congenital rubella syndrome was rst recognized in 1941 and could have various symptoms, such as mild to severe sensorineural hearing loss (SNHL), cataracts,
mental retardation, and congenital heart disease [1, 3, 4]. During pregnancy,
9
Z. G. Gayretli Aydın (*)
Division of Pediatric Infectious Diseases, Department of Pediatrics, Faculty of Medicine,
Karadeniz Technical University, Trabzon, Türkiye
e-mail: zggayretli@gmail.com
A. E. Arısoy
Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Kocaeli University,
Kocaeli, Türkiye
e-mail: arisoyengin@yahoo.com
G. J. Demmler-Harrison
Division of Infectious Diseases, Department of Pediatrics, Baylor College of Medicine,
Houston, TX, USA
Infectious Disease Service, Texas Children’s Hospital, Houston, TX, USA
e-mail: gdemmler@bcm.edu
© The Author(s), under exclusive license to Springer Nature
Switzerland AG 2023
A. E. Arısoy et al. (eds.), Hearing Loss in Congenital, Neonatal and Childhood
Infections, Comprehensive ENT, https://doi.org/10.1007/978-3-031-38495-0_9
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maternal rubella infection causes roughly 105,000 children to be born with CRS
annually worldwide [5], a potentially fatal condition that could be prevented with
vaccination. After reinfection, a few conrmed CRS cases have been observed, and
this event is rarely teratogenic [4, 6].
In 1969, after the license of the rubella vaccine, rubella and congenital rubella
cases decreased rapidly in countries employing national immunization programs.
Nevertheless, CRS and rubella remain a signicant public health threat in countries
lacking rubella immunization programs worldwide [7].
Z. G. Gayretli Aydın et al.
9.2 Etiology
In 1962, Weller and Neva [8] and Parkman etal. found a positive-sense, enveloped,
and single-stranded ribonucleic acid (RNA) virus called rubella virus [9, 10].
Rubella virus is considered in the Rubivirus genus the sole member within the
Togavirus family. Only one serotype of the rubella virus has been recognized, and
humans are the only identied reservoirs [7, 8].
Three structural polypeptides are observed in the rubella virüs; a single nonglycosylated core protein, C, surrounding the virion’s RNA, and two envelope glycoproteins of E1 and E2. The rubella virus E1 prevailing exterior molecule is the
primary target of the humoral reaction, and it is responsible for viral attachment,
fusion, hemagglutination, and neutralization. The E2 glycoprotein is embedded into
the envelope [7, 11].
9.3 Pathogenesis
The rubella virus enters the target cell by binding the E1 protein on its surface to the
host cell’s myelin oligodendrocyte glycoprotein (MOG), mainly identied in human
central nervous system (CNS) cells and the placenta [12, 13]. The rubella virus is
transmitted to the fetus by the placental route and infects all fetal organs. When a
maternal infection develops in the rst trimester of pregnancy, the risk of fetal
defects is as high as 85–90%, as organogenesis occurs during this period [7]. The
risk decreases to 50% with maternal infection at 13–16 weeks and 25% at
15–16weeks [7]. Although fetal defect risk is infrequent in maternal infections that
develop after the 16th week, hearing loss (HL) may develop with maternal infection
as late as 20weeks [7, 14]. Whether rubella reinfection during pregnancy is transmitted to the fetus is controversial [7, 14, 15].
The pathogenesis of congenital rubella infection remains unclear. A few studies
demonstrated the histopathological changes related to the CRS in multiple organs.
Cytopathic damage occurs in blood vessels, and ischemia develops in affected
organs [16]. Noninammatory necrosis was detected in infected fetuses’ eye, ear,
heart, brain, and liver structures [8, 17]. Lachrymal glands in the eye and the direct
viral infection in epithelial cells of the ciliary body, pycnotic nuclei, inclusion bodies, and cytoplasmic vacuoles detected in primary lens cells could play an inuential
9 Congenital Rubella Infection andHearing Loss
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role in developing cataracts [18]. Histopathological analysis of rubella virusinfected fetuses showed cellular damage in the cochlear duct and/or stria vascularis
epithelium. These ndings may explain the cause of deafness in CRS [17, 18].
Tropism of the rubella virus to the fetal endothelial cells was detected [19].
Vascular pathologies such as thrombosis and surrounding tissue necrosis in CRS
result from persistent rubella virus infection of the endothelium [7, 19]. Vascular
necrotic changes cause cellular destruction, leading to ischemic damage to the myocardium and brain [6, 17] and signicant histopathological changes in the liver [18].
Necrotizing and inammatory changes were presented in the liver of the infected
fetus [18].
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9.4 Epidemiology
Rubella was a more common disease before the rubella vaccine’s global use, which
occurs most often during spring, mainly among young children. Epidemics occur
every 6–9years, and large-scale epidemics arise for up to 30years [1]. In the prevaccine era, in the United States of America (USA), 62 CRS and 57,600 rubella
cases were reported every year [20]. The last major American epidemic occurred in
1964–1965. There was a report of 12.5 million rubella cases and approximately
20,000 CRS cases in this epidemic [1, 2]. After national vaccination campaigns in
the USA, rubella incidence has decreased by more than 99% and declined by 86%
worldwide [21]. After 2004, rubella and CRS elimination were declared from the
USA [7, 22]. However, rubella is still commonly circulated in different parts of the
world, and an estimated 100,000 infants are born with CRS yearly [7]. As a result of
the failure to manage vaccination programs, large rubella outbreaks were reported
in low- and middle-income countries such as Ethiopia, Oman, Uzbekistan, Romania,
Argentina, Brazil, and some other Latin American countries [23].
In 2021, the World Health Organization (WHO) reported that the current rubella
vaccine global coverage was 69%, with 90% in America, 95% in Europe, 45% in
Eastern Mediterranea, 32% in Africa, 83% in South-East Asia, and 94% Western
Pacic [5]. Twelve and a half million disability-adjusted life years (DALYs) and
131,000 deaths because of CRS could be prevented from 2001 to 2030 with
expanded coverage for the rubella vaccine. Eighty-one of 194 (42%) member states
in WHO regions conrmed eradicating rubella until September 2019 [5].
9.5 Clinical Manifestations ofCongenital Rubella Syndrome
During pregnancy, and especially in the rst trimester, CRS is the most severe consequence of rubella virus infection. Manifestations of CRS vary depending on the
timing of maternal infection. The defect risk is quite high if maternal rubella infection develops in the rst trimester. The risk is considerably reduced after 18–20weeks
of pregnancy [7, 24, 25].
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Congenital rubella syndrome presents different manifestations during intrauterine, early (neonatal), and later periods. Congenital disabilities and death in the
affected fetus and premature birth may develop. A literature review evaluating articles between 1991 and 2014 reported that 17 of 32 fetuses showed 56 various disabilities detected before labor [24]. Amniotic uid anomalies (40%), cardiac
malformation (34.3%), brain anomalies (12.5%), and ocular abnormalities (6.25%)
were identied. Placentomegaly, hepatosplenomegaly, hyperechogenic bowel, ascites, short femur, micrognathia, hyperechogenic scrotal mass, and single umbilical
artery were among the other ultrasound ndings [24].
Z. G. Gayretli Aydın et al.
9.5.1 Early Manifestations
In 1970, abnormalities were reported in a systematic review of 1109 children having
CRS [24]. Early manifestations of CRS include intrauterine growth retardation, low
birth weight, blueberry mufn lesions, generalized lymphadenopathy, hepatosplenomegaly, hepatitis, jaundice, diarrhea, bleeding underneath the skin, hemolytic
anemia, congenital heart disease, pneumonitis, meningoencephalitis, cataract,
microphthalmia, retinopathy, bony radiolucencies, cryptorchidism, and inguinal
hernia. Some manifestations may be temporary, while others may be permanent
(Table9.1) [1, 2, 26]. In a study following the 1964 rubella epidemic in the USA,
68% of newborns with CRS were subclinical, and 71% of subclinical patients developed clinical signs in the rst 5years [27].
9.5.2 Cardiac Defects
Patent ductus arteriosus (PDA), pulmonary valvular stenosis, pulmonary artery stenosis, pulmonary hypertension, coarctation of the aorta, aortic stenosis, atrial septal
defect (ASD), and ventricular septal defect (VSD) are the cardiac defects detected
in 38–70% of CRS patients [2]. The most common cardiac nding is PDA in newborns with CRS. In evaluating 36 children having CRS using echocardiography,
PDA was found in 67%, ASD in 19%, pulmonary stenosis in 8%, VSD in 3%, and
atrioventricular septal defect in 3% [28]. In another study evaluating more patients
with CRS, similar to previous studies, the most frequently detected defect was PDA
(87%), tricuspid regurgitation (65%), ASD/patent foramen ovale (50%), pulmonary
hypertension (44%), mitral regurgitation (26%), pulmonary stenosis (23%), pulmonary regurgitation (15%), aortic stenosis (14%), VSD (9%), aortic regurgitation
(7%), coarctation of the aorta (4%), and atrioventricular septal defect (1%) [2].
Affected newborns may also develop myocarditis, which can result in death. In
addition to cardiac defects, vascular problems may also occur in children with
CRS.Many vessels, such as coronary, cerebral, and peripheral arteries, with obstructive lesions were reported [29].
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121
Table 9.1 Clinical manifestations of congenital rubella syndrome
Temporary
a
Permanent
General Low birth weight
Skin effects Dermal erythropoiesis Chronic rash
Dimples
Ocular effects Cloudy cornea Cataracts
Iridocyclitis Microphthalmos
Glaucoma
Pigmentary retinopathy
Hypoplasia of the iris
Severe myopia
Auditory effects Central hearing impairment
Cardiovascular effects Myocarditis Pulmonary arterial stenosis
Aortic stenosis
Coarctation of aorta
Atrial/ventricular septal
defects
Patent ductus arteriosus
Tetralogy of Fallot
Pulmonary hypertension
Pulmonary effects Interstitial pneumonitis Interstitial pneumonitis
Tracheoesophageal stula
Gastrointestinal
Hepatosplenomegaly
effects
Hepatitis Duodenal stenosis
Jaundice Jejunal or rectal atresia
Chronic diarrhea
Central nervous
Meningoencephalitis Microcephaly
system
Large anterior fontanel Spastic diplegia
Hyperirritability (tremors) Brain calcication
Seizures Cerebral arterial stenosis
Hypotonia
Hematologic effects Hemolytic anemia
Hypoplastic anemia
Thrombocytopenia with/without
purpura
Urogenital anomalies Vesicoureteral reux Hypospadias
Cryptorchidism
Vesicoureteral reux
Inguinal hernia
Orthopedic effects Radiolucent bone disease Clubfoot
Pathologic fractures
Myositis
Immunologic effects Thymic hypoplasia
Asplenia
a
Adapted and modied from Ref. [1, 2, 26]
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