TORCH Infections

Ashley M. Maranich, MD
CPT/USA/MC
Pediatric Infectious Disease Fellow
TORCH Infections
T=toxoplasmosis
O=other (syphilis)
R=rubella
C=cytomegalovirus (CMV)
H=herpes simplex (HSV)
 You are taking care of a term newborn
male with birth weight/length <10th %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?
How do you proceed with a work-up?
Index of Suspicion
When do you think of TORCH
infections?
IUGR infants
HSM
Thrombocytopenia
Unusual rash
Concerning maternal history
Classic findings of any specific infection
 Diagnosing TORCH Infection

!!!!!!DO NOT USE TORCH TITERS!!!!!!

Diagnosing TORCH Infection
Good maternal/prenatal history
Remember most infections of concern are
mild illnesses often unrecognized
Thorough exam of infant
Directed labs/studies based on most
likely diagnosis
Again, DO NOT USE TORCH TITERS!
 Screening TORCH Infections
Retrospective study of 75/182 infants with IUGR who
were screened for TORCH infections
1/75 with clinical findings, 11/75 with abnl lab findings
All patients screened:
TORCH titers, urine CMV culture, head US
Only 3 diagnosed with infection
NONE by TORCH titer!!
Overall cost of all tests = $51,715
Shotgun screening approach NOT cost effective nor
particularly useful
Diagnostic 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
Toxoplasmosis
Caused by protozoan Toxoplasma gondii
Domestic cat is the definitive host with
infections via:
Ingestion of cysts (meats, garden products)
Contact with oocysts in feces
Much higher prevalence of infection in
European countries (ie France, Greece)
Acute infection usually asymptomatic
1/3 risk of fetal infection with primary maternal
infection in pregnancy
Infection rate higher with infxn in 3rd trimester
Fetal death higher with infxn in 1st trimester
 Clinical Manifestations
Most (70-90%) are asymptomatic at birth
Classic triad of symptoms:
Chorioretinitis
Hydrocephalus
Intracranial calcifications
Other symptoms include fever, rash, HSM,
microcephaly, seizures, jaundice,
thrombocytopenia, lymphadenopathy
Initially asymptomatic infants are still at high risk
of developing abnormalities, especially
chorioretinitis
Chorioretinitis of congenital toxo
Diagnosis
Maternal IgG testing indicates past
infection (but when?)
Can be isolated in culture from
placenta, umbilical cord, infant serum
PCR testing on WBC, CSF, placenta
Not standardized
Newborn serologies with IgM/IgA
Toxo Screening
Prenatal testing with varied sensitivity
not useful for screening
Neonatal screening with IgM testing
implemented in some areas
Identifies infected asymptomatic infants
who may benefit from therapy
Prevention and Treatment
Treatment for pregnant mothers diagnosed with acute toxo
Spiramycin daily
Macrolide antibiotic
Small studies have shown this reduces likelihood of congenital
transmission (up to 50%)
If infant diagnosed prenatally, treat mom
Spiramycin, pyrimethamine (anti-malarial, dihydrofolate reductase
inhib), and sulfadiazine (sulfa antibiotic)
Leucovorin rescue with pyrimethamine
Symptomatic infants
Pyrimethamine (with leucovorin rescue) and sulfadiazine
Treatment for 12 months total
Asymptomatic infants
Course of same medications
Improved neurologic and developmental outcomes demonstrated
(compared to untreated pts or those treated for only one month)
Syphilis
Treponema pallidum (spirochete)
Transmitted via sexual contact
Placental transmission as early as 6wks
gestation
Typically occurs during second half
Mom with primary or secondary syphilis more
likely to transmit than latent disease
Large decrease in congenital syphilis since
late 1990s
In 2002, only 11.2 cases/100,000 live births
reported
From MMWR
Aug 2004
From MMWR
Aug 2004
Congenital Syphilis
2/3 of affected live-born infants are
asymptomatic at birth
Clinical symptoms split into early or late
(2 years is cutoff)
3 major classifications:
Fetal effects
Early effects
Late effects
Clinical Manifestations
Fetal:
Stillbirth
Neonatal death
Hydrops fetalis
Intrauterine death in 25%
Perinatal mortality in 25-30% if
untreated
Clinical Manifestations
Early congenital (typically 1st 5 weeks):
Cutaneous lesions (palms/soles)
HSM
Jaundice
Anemia
Snuffles
Periostitis and metaphysial dystrophy
Funisitis (umbilical cord vasculitis)
Periostitis of long bones seen
in neonatal syphilis
Clinical Manifestations
Late congenital:
Frontal bossing
Short maxilla
High palatal arch
Hutchinson teeth
8th nerve deafness
Saddle nose
Perioral fissures
Can be prevented with appropriate treatment
Hutchinson teeth late result of
congenital syphilis
 Diagnosing Syphilis
(Not in Newborns)
Available serologic testing
RPR/VDRL: nontreponemal test
Sensitive but NOT specific
Quantitative, so can follow to determine disease activity
and treatment response
MHA-TP/FTA-ABS: specific treponemal test
Used for confirmatory testing
Qualitative, once positive always positive
RPR/VDRL screen in ALL pregnant women
early in pregnancy and at time of birth
This is easily treated!!
 CDC Definition of Congenital
Syphilis
Confirmed if T. pallidum identified in skin
lesions, placenta, umbilical cord, or at
autopsy
Presumptive diagnosis if any of:
Physical exam findings
CSF findings (positive VDRL)
Osteitis on long bone x-rays
Funisitis (barber shop pole umbilical cord)
RPR/VDRL >4 times maternal test
Positive IgM antibody
Diagnosing Congenital Syphilis

IgG can represent maternal antibody,

not infant infection
This is VERY intricate and often
confusing
Consult your RedBook (or peds ID folks)
when faced with this situation
Treatment
Penicillin G is THE drug of choice for ALL
syphilis infections
Maternal treatment during pregnancy very
effective (overall 98% success)
Treat newborn if:
They meet CDC diagnostic criteria
Mom was treated <4wks before delivery
Mom treated with non-PCN med
Maternal titers do not show adequate response
(less than 4-fold decline)
Rubella
Single-stranded RNA virus
Vaccine-preventable disease
No longer considered endemic in the U.S.
Mild, self-limiting illness
Infection earlier in pregnancy has a
higher probability of affected infant
 Reported rubella and CRS: United States, 1966-2004

Meissner, H. C.American
Copyright 2006 et al. Pediatrics
Academy of 2006;117:933-935
Pediatrics
Clinical Manifestations
Sensorineural hearing loss (50-75%)
Cataracts and glaucoma (20-50%)
Cardiac malformations (20-50%)
Neurologic (10-20%)
Others to include growth retardation,
bone disease, HSM, thrombocytopenia,
blueberry muffin lesions
Blueberry muffin spots representing
extramedullary hematopoesis
Diagnosis
Maternal IgG may represent immunization or
past infection - Useless!
Can isolate virus from nasal secretions
Less frequently from throat, blood, urine, CSF
Serologic testing
IgM = recent postnatal or congenital infection
Rising monthly IgG titers suggest congenital
infection
Diagnosis after 1 year of age difficult to
establish
Treatment
Preventionimmunize, immunize,
immunize!
Supportive care only with parent
education
Cytomegalovirus (CMV)
Most common congenital viral infection
~40,000 infants per year in the U.S.
Mild, self limiting illness
Transmission can occur with primary infection
or reactivation of virus
40% risk of transmission in primary infxn
Studies suggest increased risk of
transmission later in pregnancy
However, more severe sequalae associated with
earlier acquisition
Clinical Manifestations
90% are asymptomatic at birth!
Up to 15% develop symptoms later,
notably sensorineural hearing loss
Symptomatic infection
SGA, HSM, petechiae, jaundice,
chorioretinitis, periventricular calcifications,
neurological deficits
>80% develop long term complications
Hearing loss, vision impairment, developmental
delay
Ventriculomegaly and
calcifications of
congenital CMV
Diagnosis
Maternal IgG shows only past infection
Infection common this is useless
Viral isolation from urine or saliva in 1st
3weeks of life
Afterwards may represent post-natal infection
Viral load and DNA copies can be assessed
by PCR
Less useful for diagnosis, but helps in following
viral activity in patient
Serologies not helpful given high antibody in
population
Treatment
Ganciclovir x6wks in symptomatic infants
Studies show improvement or no progression of
hearing loss at 6mos
No other outcomes evaluated (development, etc.)
Neutropenia often leads to cessation of therapy
Treatment currently not recommended in
asymptomatic infants due to side effects
Area of active research to include use of
valgancyclovir, treating asx patients, etc.
Herpes Simplex (HSV)
HSV1 or HSV2
Primarily transmitted through infected
maternal genital tract
Rationale for C-section delivery prior to
membrane rupture
Primary infection with greater
transmission risk than reactivation
Clinical Manifestations
Most are asymptomatic at birth
3 patterns of ~ equal frequency with
symptoms between birth and 4wks:
Skin, eyes, mouth (SEM)
CNS disease
Disseminated disease (present earliest)
Initial manifestations very nonspecific with
skin lesions NOT necessarily present
Presentations of congenital HSV
Diagnosis
Culture of maternal lesions if present at
delivery
Cultures in infant:
Skin lesions, oro/nasopharynx, eyes, urine, blood,
rectum/stool, CSF
CSF PCR
Serologies again not helpful given high
prevalence of HSV antibodies in population
Treatment
High dose acyclovir 60mg/kg/day
divided q8hrs
X21days for disseminated, CNS disease
X14days for SEM
Ocular involvement requires topical
therapy as well
Which TORCH Infection Presents
With
Snuffles?
syphilis
Chorioretinitis, hydrocephalus, and
intracranial calcifications?
toxo
Blueberry muffin lesions?
rubella
Periventricular calcifications?
CMV
No symptoms?
All of them
Which TORCH Infections Can
Absolutely Be Prevented?
Rubella

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

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