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TORCH Infections Ashley M. Maranich, MD CPT/USA/MC Pediatric Infectious Disease Fellow.

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Presentation on theme: "TORCH Infections Ashley M. Maranich, MD CPT/USA/MC Pediatric Infectious Disease Fellow."— Presentation transcript:

1 TORCH Infections Ashley M. Maranich, MD CPT/USA/MC Pediatric Infectious Disease Fellow

2 TORCH Infections T=toxoplasmosisT=toxoplasmosis O=other (syphilis)O=other (syphilis) R=rubellaR=rubella C=cytomegalovirus (CMV)C=cytomegalovirus (CMV) H=herpes simplex (HSV)H=herpes simplex (HSV)

3 You are taking care of a term newborn male with birth weight/length <10 th %ile. Physical exam is normal except for a slightly enlarged liver span. A CBC is significant for low platelets.You are taking care of a term newborn male with birth weight/length <10 th %ile. Physical exam is normal except for a slightly enlarged liver span. A CBC is significant for low platelets. What, if anything, do you worry about?What, if anything, do you worry about? How do you proceed with a work-up?How do you proceed with a work-up?

4 Index of Suspicion When do you think of TORCH infections?When do you think of TORCH infections? IUGR infantsIUGR infants HSMHSM ThrombocytopeniaThrombocytopenia Unusual rashUnusual rash Concerning maternal historyConcerning maternal history “Classic” findings of any specific infection“Classic” findings of any specific infection

5 Diagnosing TORCH Infection !!!!!!DO NOT USE TORCH TITERS!!!!!!

6 Diagnosing TORCH Infection Good maternal/prenatal historyGood maternal/prenatal history Remember most infections of concern are mild illnesses often unrecognizedRemember most infections of concern are mild illnesses often unrecognized Thorough exam of infantThorough exam of infant Directed labs/studies based on most likely diagnosis…Directed labs/studies based on most likely diagnosis… Again, DO NOT USE TORCH TITERS!Again, DO NOT USE TORCH TITERS!

7 Screening TORCH Infections Retrospective study of 75/182 infants with IUGR who were screened for TORCH infectionsRetrospective study of 75/182 infants with IUGR who were screened for TORCH infections 1/75 with clinical findings, 11/75 with abnl lab findings1/75 with clinical findings, 11/75 with abnl lab findings All patients screened:All patients screened: TORCH titers, urine CMV culture, head USTORCH titers, urine CMV culture, head US Only 3 diagnosed with infectionOnly 3 diagnosed with infection NONE by TORCH titer!!NONE by TORCH titer!! Overall cost of all tests = $51,715Overall cost of all tests = $51,715 “Shotgun” screening approach NOT cost effective nor particularly useful“Shotgun” screening approach NOT cost effective nor particularly useful Diagnostic work-up should be logical and directed by history/exam findingsDiagnostic work-up should be logical and directed by history/exam findings Khan, NA, Kazzi, SN. Yield and costs of screening growth-retarded infants for torch infections. Am J Perinatol 2000; 17:131.

8 Toxoplasmosis Caused by protozoan – Toxoplasma gondiiCaused by protozoan – Toxoplasma gondii Domestic cat is the definitive host with infections via:Domestic cat is the definitive host with infections via: Ingestion of cysts (meats, garden products)Ingestion of cysts (meats, garden products) Contact with oocysts in fecesContact with oocysts in feces Much higher prevalence of infection in European countries (ie France, Greece)Much higher prevalence of infection in European countries (ie France, Greece) Acute infection usually asymptomaticAcute infection usually asymptomatic 1/3 risk of fetal infection with primary maternal infection in pregnancy1/3 risk of fetal infection with primary maternal infection in pregnancy Infection rate higher with infxn in 3 rd trimesterInfection rate higher with infxn in 3 rd trimester Fetal death higher with infxn in 1 st trimesterFetal death higher with infxn in 1 st trimester

9 Clinical Manifestations Most (70-90%) are asymptomatic at birthMost (70-90%) are asymptomatic at birth Classic triad of symptoms:Classic triad of symptoms: ChorioretinitisChorioretinitis HydrocephalusHydrocephalus Intracranial calcificationsIntracranial calcifications Other symptoms include fever, rash, HSM, microcephaly, seizures, jaundice, thrombocytopenia, lymphadenopathyOther symptoms include fever, rash, HSM, microcephaly, seizures, jaundice, thrombocytopenia, lymphadenopathy Initially asymptomatic infants are still at high risk of developing abnormalities, especially chorioretinitisInitially asymptomatic infants are still at high risk of developing abnormalities, especially chorioretinitis

10 Chorioretinitis of congenital toxo

11 Diagnosis Maternal IgG testing indicates past infection (but when…?)Maternal IgG testing indicates past infection (but when…?) Can be isolated in culture from placenta, umbilical cord, infant serumCan be isolated in culture from placenta, umbilical cord, infant serum PCR testing on WBC, CSF, placentaPCR testing on WBC, CSF, placenta Not standardizedNot standardized Newborn serologies with IgM/IgANewborn serologies with IgM/IgA

12 Toxo Screening Prenatal testing with varied sensitivity not useful for screeningPrenatal testing with varied sensitivity not useful for screening Neonatal screening with IgM testing implemented in some areasNeonatal screening with IgM testing implemented in some areas Identifies infected asymptomatic infants who may benefit from therapyIdentifies infected asymptomatic infants who may benefit from therapy

13 Prevention and Treatment Treatment for pregnant mothers diagnosed with acute toxoTreatment for pregnant mothers diagnosed with acute toxo Spiramycin dailySpiramycin daily Macrolide antibioticMacrolide antibiotic Small studies have shown this reduces likelihood of congenital transmission (up to 50%)Small studies have shown this reduces likelihood of congenital transmission (up to 50%) If infant diagnosed prenatally, treat momIf infant diagnosed prenatally, treat mom Spiramycin, pyrimethamine (anti-malarial, dihydrofolate reductase inhib), and sulfadiazine (sulfa antibiotic)Spiramycin, pyrimethamine (anti-malarial, dihydrofolate reductase inhib), and sulfadiazine (sulfa antibiotic) Leucovorin rescue with pyrimethamineLeucovorin rescue with pyrimethamine Symptomatic infantsSymptomatic infants Pyrimethamine (with leucovorin rescue) and sulfadiazinePyrimethamine (with leucovorin rescue) and sulfadiazine Treatment for 12 months totalTreatment for 12 months total Asymptomatic infantsAsymptomatic infants Course of same medicationsCourse of same medications Improved neurologic and developmental outcomes demonstrated (compared to untreated pts or those treated for only one month)Improved neurologic and developmental outcomes demonstrated (compared to untreated pts or those treated for only one month)

14 Syphilis Treponema pallidum (spirochete)Treponema pallidum (spirochete) Transmitted via sexual contactTransmitted via sexual contact Placental transmission as early as 6wks gestationPlacental transmission as early as 6wks gestation Typically occurs during second halfTypically occurs during second half Mom with primary or secondary syphilis more likely to transmit than latent diseaseMom with primary or secondary syphilis more likely to transmit than latent disease Large decrease in congenital syphilis since late 1990sLarge decrease in congenital syphilis since late 1990s In 2002, only 11.2 cases/100,000 live births reportedIn 2002, only 11.2 cases/100,000 live births reported

15 From MMWR – Aug 2004

16

17 Congenital Syphilis 2/3 of affected live-born infants are asymptomatic at birth2/3 of affected live-born infants are asymptomatic at birth Clinical symptoms split into early or late (2 years is cutoff)Clinical symptoms split into early or late (2 years is cutoff) 3 major classifications:3 major classifications: Fetal effectsFetal effects Early effectsEarly effects Late effectsLate effects

18 Clinical Manifestations Fetal:Fetal: StillbirthStillbirth Neonatal deathNeonatal death Hydrops fetalisHydrops fetalis Intrauterine death in 25%Intrauterine death in 25% Perinatal mortality in 25-30% if untreatedPerinatal mortality in 25-30% if untreated

19 Clinical Manifestations Early congenital (typically 1 st 5 weeks):Early congenital (typically 1 st 5 weeks): Cutaneous lesions (palms/soles)Cutaneous lesions (palms/soles) HSMHSM JaundiceJaundice AnemiaAnemia SnufflesSnuffles Periostitis and metaphysial dystrophyPeriostitis and metaphysial dystrophy Funisitis (umbilical cord vasculitis)Funisitis (umbilical cord vasculitis)

20 Periostitis of long bones seen in neonatal syphilis

21 Clinical Manifestations Late congenital:Late congenital: Frontal bossingFrontal bossing Short maxillaShort maxilla High palatal archHigh palatal arch Hutchinson teethHutchinson teeth 8 th nerve deafness8 th nerve deafness Saddle noseSaddle nose Perioral fissuresPerioral fissures Can be prevented with appropriate treatmentCan be prevented with appropriate treatment

22 Hutchinson teeth – late result of congenital syphilis

23 Diagnosing Syphilis (Not in Newborns) Available serologic testingAvailable serologic testing RPR/VDRL: nontreponemal testRPR/VDRL: nontreponemal test Sensitive but NOT specificSensitive but NOT specific Quantitative, so can follow to determine disease activity and treatment responseQuantitative, so can follow to determine disease activity and treatment response MHA-TP/FTA-ABS: specific treponemal testMHA-TP/FTA-ABS: specific treponemal test Used for confirmatory testingUsed for confirmatory testing Qualitative, once positive always positiveQualitative, once positive always positive RPR/VDRL screen in ALL pregnant women early in pregnancy and at time of birthRPR/VDRL screen in ALL pregnant women early in pregnancy and at time of birth This is easily treated!!This is easily treated!!

24 CDC Definition of Congenital Syphilis Confirmed if T. pallidum identified in skin lesions, placenta, umbilical cord, or at autopsyConfirmed if T. pallidum identified in skin lesions, placenta, umbilical cord, or at autopsy Presumptive diagnosis if any of:Presumptive diagnosis if any of: Physical exam findingsPhysical exam findings CSF findings (positive VDRL)CSF findings (positive VDRL) Osteitis on long bone x-raysOsteitis on long bone x-rays Funisitis (“barber shop pole” umbilical cord)Funisitis (“barber shop pole” umbilical cord) RPR/VDRL >4 times maternal testRPR/VDRL >4 times maternal test Positive IgM antibodyPositive IgM antibody

25 Diagnosing Congenital Syphilis IgG can represent maternal antibody, not infant infectionIgG can represent maternal antibody, not infant infection This is VERY intricate and often confusingThis is VERY intricate and often confusing Consult your RedBook (or peds ID folks) when faced with this situationConsult your RedBook (or peds ID folks) when faced with this situation

26 Treatment Penicillin G is THE drug of choice for ALL syphilis infectionsPenicillin G is THE drug of choice for ALL syphilis infections Maternal treatment during pregnancy very effective (overall 98% success)Maternal treatment during pregnancy very effective (overall 98% success) Treat newborn if:Treat newborn if: They meet CDC diagnostic criteriaThey meet CDC diagnostic criteria Mom was treated <4wks before deliveryMom was treated <4wks before delivery Mom treated with non-PCN medMom treated with non-PCN med Maternal titers do not show adequate response (less than 4-fold decline)Maternal titers do not show adequate response (less than 4-fold decline)

27 Rubella Single-stranded RNA virusSingle-stranded RNA virus Vaccine-preventable diseaseVaccine-preventable disease No longer considered endemic in the U.S.No longer considered endemic in the U.S. Mild, self-limiting illnessMild, self-limiting illness Infection earlier in pregnancy has a higher probability of affected infantInfection earlier in pregnancy has a higher probability of affected infant

28 Copyright ©2006 American Academy of Pediatrics Meissner, H. C. et al. Pediatrics 2006;117: Reported rubella and CRS: United States,

29 Clinical Manifestations Sensorineural hearing loss (50-75%)Sensorineural hearing loss (50-75%) Cataracts and glaucoma (20-50%)Cataracts and glaucoma (20-50%) Cardiac malformations (20-50%)Cardiac malformations (20-50%) Neurologic (10-20%)Neurologic (10-20%) Others to include growth retardation, bone disease, HSM, thrombocytopenia, “blueberry muffin” lesionsOthers to include growth retardation, bone disease, HSM, thrombocytopenia, “blueberry muffin” lesions

30 “Blueberry muffin” spots representing extramedullary hematopoesis

31 Diagnosis Maternal IgG may represent immunization or past infection - Useless!Maternal IgG may represent immunization or past infection - Useless! Can isolate virus from nasal secretionsCan isolate virus from nasal secretions Less frequently from throat, blood, urine, CSFLess frequently from throat, blood, urine, CSF Serologic testingSerologic testing IgM = recent postnatal or congenital infectionIgM = recent postnatal or congenital infection Rising monthly IgG titers suggest congenital infectionRising monthly IgG titers suggest congenital infection Diagnosis after 1 year of age difficult to establishDiagnosis after 1 year of age difficult to establish

32 Treatment Prevention…immunize, immunize, immunize!Prevention…immunize, immunize, immunize! Supportive care only with parent educationSupportive care only with parent education

33 Cytomegalovirus (CMV) Most common congenital viral infectionMost common congenital viral infection ~40,000 infants per year in the U.S.~40,000 infants per year in the U.S. Mild, self limiting illnessMild, self limiting illness Transmission can occur with primary infection or reactivation of virusTransmission can occur with primary infection or reactivation of virus 40% risk of transmission in primary infxn40% risk of transmission in primary infxn Studies suggest increased risk of transmission later in pregnancyStudies suggest increased risk of transmission later in pregnancy However, more severe sequalae associated with earlier acquisitionHowever, more severe sequalae associated with earlier acquisition

34 Clinical Manifestations 90% are asymptomatic at birth!90% are asymptomatic at birth! Up to 15% develop symptoms later, notably sensorineural hearing lossUp to 15% develop symptoms later, notably sensorineural hearing loss Symptomatic infectionSymptomatic infection SGA, HSM, petechiae, jaundice, chorioretinitis, periventricular calcifications, neurological deficitsSGA, HSM, petechiae, jaundice, chorioretinitis, periventricular calcifications, neurological deficits >80% develop long term complications>80% develop long term complications Hearing loss, vision impairment, developmental delayHearing loss, vision impairment, developmental delay

35 Ventriculomegaly and calcifications of congenital CMV

36 Diagnosis Maternal IgG shows only past infectionMaternal IgG shows only past infection Infection common – this is uselessInfection common – this is useless Viral isolation from urine or saliva in 1 st 3weeks of lifeViral isolation from urine or saliva in 1 st 3weeks of life Afterwards may represent post-natal infectionAfterwards may represent post-natal infection Viral load and DNA copies can be assessed by PCRViral load and DNA copies can be assessed by PCR Less useful for diagnosis, but helps in following viral activity in patientLess useful for diagnosis, but helps in following viral activity in patient Serologies not helpful given high antibody in populationSerologies not helpful given high antibody in population

37 Treatment Ganciclovir x6wks in symptomatic infantsGanciclovir x6wks in symptomatic infants Studies show improvement or no progression of hearing loss at 6mosStudies show improvement or no progression of hearing loss at 6mos No other outcomes evaluated (development, etc.)No other outcomes evaluated (development, etc.) Neutropenia often leads to cessation of therapyNeutropenia often leads to cessation of therapy Treatment currently not recommended in asymptomatic infants due to side effectsTreatment currently not recommended in asymptomatic infants due to side effects Area of active research to include use of valgancyclovir, treating asx patients, etc.Area of active research to include use of valgancyclovir, treating asx patients, etc.

38 Herpes Simplex (HSV) HSV1 or HSV2HSV1 or HSV2 Primarily transmitted through infected maternal genital tractPrimarily transmitted through infected maternal genital tract Rationale for C-section delivery prior to membrane ruptureRationale for C-section delivery prior to membrane rupture Primary infection with greater transmission risk than reactivationPrimary infection with greater transmission risk than reactivation

39 Clinical Manifestations Most are asymptomatic at birthMost are asymptomatic at birth 3 patterns of ~ equal frequency with symptoms between birth and 4wks:3 patterns of ~ equal frequency with symptoms between birth and 4wks: Skin, eyes, mouth (SEM)Skin, eyes, mouth (SEM) CNS diseaseCNS disease Disseminated disease (present earliest)Disseminated disease (present earliest) Initial manifestations very nonspecific with skin lesions NOT necessarily presentInitial manifestations very nonspecific with skin lesions NOT necessarily present

40 Presentations of congenital HSV

41 Diagnosis Culture of maternal lesions if present at deliveryCulture of maternal lesions if present at delivery Cultures in infant:Cultures in infant: Skin lesions, oro/nasopharynx, eyes, urine, blood, rectum/stool, CSFSkin lesions, oro/nasopharynx, eyes, urine, blood, rectum/stool, CSF CSF PCRCSF PCR Serologies again not helpful given high prevalence of HSV antibodies in populationSerologies again not helpful given high prevalence of HSV antibodies in population

42 Treatment High dose acyclovir 60mg/kg/day divided q8hrsHigh dose acyclovir 60mg/kg/day divided q8hrs X21days for disseminated, CNS diseaseX21days for disseminated, CNS disease X14days for SEMX14days for SEM Ocular involvement requires topical therapy as wellOcular involvement requires topical therapy as well

43

44 Which TORCH Infection Presents With… Snuffles?Snuffles? syphilissyphilis Chorioretinitis, hydrocephalus, and intracranial calcifications?Chorioretinitis, hydrocephalus, and intracranial calcifications? toxotoxo Blueberry muffin lesions?Blueberry muffin lesions? rubellarubella Periventricular calcifications?Periventricular calcifications? CMVCMV No symptoms?No symptoms? All of themAll of them

45 Which TORCH Infections Can Absolutely Be Prevented? RubellaRubella SyphilisSyphilis

46 When Are TORCH Titers Helpful in Diagnosing Congenital Infection? NEVER!NEVER!

47 Questions?


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