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Ostermayer: Created page with "TORCH infections is an acronym for a group of congenital and perinatal infections that share overlapping clinical features in the newborn: '''T'''oxoplasmosis, '''O'''ther (syphilis, varicella, parvovirus B19, Zika), '''R'''ubella, '''C'''ytomegalovirus (CMV), and '''H'''erpes simplex virus (HSV).Jaan A, Rajnik M. TORCH Complex. ''StatPearls''. NCBI. 2023. These infections account for approximately 2-3% of all congenital anomalies and may cau..."

2026-03-18T00:47:40Z

Created page with "TORCH infections is an acronym for a group of congenital and perinatal infections that share overlapping clinical features in the newborn: '''T'''oxoplasmosis, '''O'''ther (syphilis, varicella, parvovirus B19, Zika), '''R'''ubella, '''C'''ytomegalovirus (CMV), and '''H'''erpes simplex virus (HSV).<ref name="StatPearls">Jaan A, Rajnik M. TORCH Complex. ''StatPearls''. NCBI. 2023.</ref> These infections account for approximately 2-3% of all congenital anomalies and may cau..."

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TORCH infections is an acronym for a group of congenital and perinatal infections that share overlapping clinical features in the newborn: '''T'''oxoplasmosis, '''O'''ther (syphilis, varicella, parvovirus B19, Zika), '''R'''ubella, '''C'''ytomegalovirus (CMV), and '''H'''erpes simplex virus (HSV).<ref name="StatPearls">Jaan A, Rajnik M. TORCH Complex. ''StatPearls''. NCBI. 2023.</ref> These infections account for approximately 2-3% of all congenital anomalies and may cause fetal death, prematurity, growth restriction, and devastating multisystem disease.<ref name="StatPearls"/> The emergency physician's role is to '''recognize the nonspecific clinical pattern''' that suggests congenital infection, '''initiate time-sensitive empiric treatment''' (especially acyclovir for HSV), and '''arrange appropriate confirmatory testing and specialist consultation'''.

==Background==
*TORCH infections are transmitted from mother to fetus/neonate via:
**'''Transplacental''' (during pregnancy) — most TORCH agents
**'''Peripartum''' (during delivery) — HSV (~85% of neonatal HSV cases), HIV
**'''Postpartum''' (breast milk, close contact) — CMV, HIV
*'''Earlier gestational infection generally causes more severe fetal damage'''; later infection causes higher transmission rates but often milder disease<ref name="AMBOSS">Congenital TORCH infections. ''AMBOSS''. 2024.</ref>
*Neonatal cholestasis occurs in ~1 in 2,500 live births; infections account for ~11% of cases (see [[Neonatal hepatitis]])<ref name="Gottesman">Gottesman LE, et al. Etiologies of conjugated hyperbilirubinemia in infancy: systematic review. ''BMC Pediatr''. 2015;15:192.</ref>

===The "TORCH titer" — limitations===
*A blanket "TORCH titer" panel (IgG screening) is of '''limited clinical utility''' and is '''not recommended as a primary diagnostic strategy'''<ref name="StatPearls"/>
*Neonatal IgG largely reflects '''maternal antibodies''' transferred across the placenta and does not confirm neonatal infection
*'''Pathogen-specific testing''' (IgM, PCR) directed by clinical suspicion is far more useful
*If clinical syndrome suggests congenital infection, '''investigate each pathogen individually''' with the most appropriate rapid diagnostic test

==Clinical features==
===Shared/overlapping features (the congenital infection pattern)===
*'''Intrauterine growth restriction (IUGR)/small for gestational age'''
*'''Hepatosplenomegaly'''
*'''Jaundice''' (conjugated hyperbilirubinemia — see [[Neonatal hepatitis]])
*'''Petechiae, purpura, or thrombocytopenia''' ("blueberry muffin" rash — dermal erythropoiesis)
*'''Microcephaly'''
*'''Chorioretinitis'''
*'''Sensorineural hearing loss'''
*'''Intracranial calcifications'''
*'''Anemia'''
*'''Seizures'''

Many neonates with congenital infection are '''asymptomatic at birth''' but develop sequelae (hearing loss, developmental delay, chorioretinitis) weeks to years later.<ref name="AMBOSS"/>

===Pathogen-specific features===

====Toxoplasmosis (''Toxoplasma gondii'')====
*Classic triad: '''chorioretinitis + hydrocephalus + diffuse intracranial calcifications'''<ref name="StatPearls"/>
*Calcifications tend to be '''diffuse/scattered''' (compare CMV: periventricular)
*Chorioretinitis is the '''most common late finding''' — may appear months to years after birth
*'''Macrocephaly''' (from hydrocephalus) distinguishes from most other TORCH agents which cause microcephaly
*Most neonates are asymptomatic at birth; untreated disease leads to progressive neurologic and ocular damage
*Maternal risk: cat litter, undercooked meat, contaminated soil/water

====Congenital syphilis (''Treponema pallidum'')====
*'''Early''' (<2 years): hepatosplenomegaly, jaundice, rhinitis ('''snuffles''' — blood-tinged nasal discharge), '''maculopapular rash''' (palms/soles), osteochondritis/periostitis, generalized lymphadenopathy, '''funisitis''' (inflammation of umbilical cord), condylomata lata
*'''Late''' (>2 years): '''Hutchinson teeth''' (notched, peg-shaped incisors), '''saddle nose''', '''frontal bossing''', '''interstitial keratitis''', '''saber shins''', sensorineural deafness, '''high palatal arch'''
*'''Hydrops fetalis''' in severe cases
*Periostitis may be visible on '''skeletal X-rays''' (an important diagnostic clue)

====Rubella (congenital rubella syndrome)====
*Classic triad: '''sensorineural deafness + cataracts + congenital heart disease''' (especially patent ductus arteriosus, pulmonary artery stenosis)<ref name="AMBOSS"/>
*"Blueberry muffin" rash (dermal erythropoiesis)
*Hepatosplenomegaly, thrombocytopenic purpura
*Microcephaly, intellectual disability
*'''Deafness''' is the most common single manifestation
*Rare in countries with effective vaccination programs; consider in unvaccinated/immigrant populations

====Cytomegalovirus (CMV) — the most common congenital infection====
*Most common congenital infection worldwide (~0.2-2% of live births)<ref name="AMBOSS"/>
*'''~90% are asymptomatic at birth''' — but asymptomatic infants can still develop late-onset hearing loss and developmental delay
*Symptomatic disease: petechiae, hepatosplenomegaly, jaundice, microcephaly, '''periventricular calcifications''' (compare toxoplasmosis: diffuse), chorioretinitis, seizures
*'''Sensorineural hearing loss''' is the most important late complication — leading infectious cause of childhood hearing loss worldwide
*"Blueberry muffin" rash

====Herpes simplex virus (HSV) — the most acutely life-threatening====
*'''Most EM-critical TORCH infection''' due to rapid progression and high mortality without treatment<ref name="HSV_JHM">Schmit M, et al. Clinical progress note: Evaluation and management of neonatal herpes simplex virus disease. ''J Hosp Med''. 2023;18(6):548-555.</ref>
*Incidence: ~1 in 2,000-3,200 live births in the US
*~85% acquired '''peripartum''' (during delivery), ~10% postpartum, ~5% in utero
*'''Three clinical categories:'''

{| class="wikitable"
|-
! Category !! Frequency !! Typical onset !! Key features !! Mortality (with treatment)
|-
| '''SEM''' (skin, eyes, mouth) || ~45% || Day 7-14 || Vesicular rash (>80% have vesicles), [[keratoconjunctivitis]], oral ulcers || <1%
|-
| '''CNS''' || ~30% || Day 14-21 || Seizures (often focal), irritability, lethargy, poor feeding, bulging fontanelle; vesicles in only ~60% || ~4%
|-
| '''Disseminated''' || ~25% || Day 7-14 || Sepsis-like: [[DIC]], [[hepatitis]]/[[liver failure]], pneumonitis, shock; '''CNS involved in up to 75%'''; vesicles in only ~60% || ~30%
|}

*'''Critical pitfall:''' vesicular rash is '''absent''' in ~40% of CNS and disseminated disease — '''do not rely on vesicles to suspect HSV'''<ref name="HSV_JHM"/>
*'''Fever is often absent at presentation'''
*'''Any ill neonate <42 days of age with sepsis-like picture, seizures, or liver failure should be empirically treated with acyclovir'''

====Other "O" pathogens====
*'''Parvovirus B19:''' severe fetal anemia → '''hydrops fetalis''' (nonimmune); aplastic crisis; usually self-limited if live-born; may require intrauterine transfusion
*'''Varicella (VZV):''' congenital varicella syndrome (limb hypoplasia, cicatricial skin lesions, microcephaly, cortical atrophy, chorioretinitis); very rare with maternal vaccination
*'''Zika virus:''' microcephaly (often severe), ocular defects, arthrogryposis; epidemic setting; no specific treatment
*'''HIV:''' usually asymptomatic at birth; testing and prophylaxis per neonatal protocols

==Differential diagnosis==
===Neonate with the "congenital infection" pattern===
*'''Other TORCH infections''' (always consider the full panel when one is suspected)
*[[Neonatal sepsis]] (bacterial — ''E. coli'', GBS)
*[[Galactosemia]] (may mimic sepsis with liver failure; ''E. coli'' sepsis association)
*[[Tyrosinemia|Tyrosinemia type 1]] (liver failure + coagulopathy)
*[[Neonatal hemochromatosis]] (GALD)
*[[Biliary atresia]] (if jaundice is the presenting sign)
*Neonatal leukemia/neuroblastoma ("blueberry muffin" appearance)
*Hemophagocytic lymphohistiocytosis (HLH)
*Aicardi-Goutières syndrome ('''pseudo-TORCH''' — genetic condition mimicking congenital infection with calcifications + CSF lymphocytosis)

==Evaluation==
===ED workup for suspected congenital infection===
*'''CBC with differential:''' anemia, thrombocytopenia, atypical lymphocytes, neutropenia
*'''Hepatic panel:''' AST, ALT (may be markedly elevated in HSV hepatitis), bilirubin (fractionate)
*'''Coagulation studies:''' PT/INR, fibrinogen (DIC in disseminated HSV)
*'''Blood glucose:''' hypoglycemia (hepatic failure)
*'''BMP:''' electrolytes, renal function
*'''Blood culture''' (to exclude bacterial sepsis)
*'''Urinalysis and urine culture'''
*'''Lumbar puncture:''' CSF cell count, protein, glucose, HSV PCR, bacterial culture; HSV PCR on CSF is critical for diagnosis of CNS disease
*'''ALT specifically:''' markedly elevated ALT is a red flag for disseminated HSV (liver is a primary target organ)

===Pathogen-specific testing (initiate from ED based on clinical suspicion)===

{| class="wikitable"
|-
! Pathogen !! Best diagnostic test !! Key notes
|-
| '''HSV''' || '''HSV PCR''' (CSF, blood, surface swabs of mouth/eyes/nasopharynx/vesicles) || Start '''acyclovir empirically''' before results return; also send ALT, DIC labs
|-
| '''CMV''' || '''Urine CMV PCR''' or saliva CMV PCR || Must be collected within first '''3 weeks of life''' to distinguish congenital from postnatal infection
|-
| '''Toxoplasmosis''' || '''Toxoplasma-specific IgM and IgA''' in infant serum; '''PCR''' || IgG alone reflects maternal antibodies; ophthalmology and neuroimaging needed
|-
| '''Syphilis''' || '''RPR/VDRL''' (quantitative) on infant AND mother; '''treponemal test''' (FTA-ABS IgM) || Compare infant to maternal RPR titers; skeletal survey; LP if neurosyphilis suspected
|-
| '''Rubella''' || '''Rubella-specific IgM''' in infant serum || Maternal vaccination history is critical; viral culture/PCR of nasopharyngeal secretions
|-
| '''Parvovirus B19''' || '''Parvovirus IgM'''; '''PCR''' on blood || Reticulocyte count (aplastic crisis); fetal ultrasound for hydrops
|}

===Imaging===
*'''Cranial ultrasound''' (neonates): intracranial calcifications, ventriculomegaly, periventricular echogenicity
*'''CT head:''' more sensitive for calcifications; periventricular (CMV) vs diffuse (toxoplasmosis) distribution pattern
*'''MRI brain:''' most sensitive for cortical malformations (polymicrogyria in CMV), white matter disease
*'''Ophthalmologic examination:''' all suspected congenital infections require fundoscopic exam for chorioretinitis
*'''Skeletal survey:''' periostitis, osteochondritis (congenital syphilis)
*'''Audiology (ABR):''' arrange for all confirmed congenital infections, especially CMV

==Management==
===HSV — the ED emergency===
*'''Start IV acyclovir immediately''' in any neonate with suspected HSV — '''do not wait for PCR results'''<ref name="HSV_JHM"/>
*'''Dose: acyclovir 20 mg/kg/dose IV every 8 hours''' (= 60 mg/kg/day)
*'''Duration:'''
**'''SEM disease: 14 days''' IV
**'''CNS or disseminated disease: 21 days''' IV
**Repeat LP with CSF HSV PCR before stopping treatment in CNS disease; '''continue IV acyclovir until CSF PCR is negative'''<ref name="HSV_NIH">Herpes Simplex Virus: Pediatric OIs. ''NIH Clinical Guidelines''. 2024.</ref>
*After IV course: '''oral acyclovir suppressive therapy''' 300 mg/m²/dose TID for '''6 months''' (reduces cutaneous recurrences and improves neurodevelopmental outcomes in CNS disease)
*'''Supportive care:''' IV fluids, correct DIC/coagulopathy (FFP, cryoprecipitate, platelets), respiratory support, seizure management, broad-spectrum antibiotics until bacterial sepsis excluded
*'''Monitor:''' CBC twice weekly (acyclovir-associated neutropenia in ~20%), daily creatinine (nephrotoxicity)
*'''Ophthalmology consult:''' herpetic keratoconjunctivitis requires topical trifluridine or ganciclovir in addition to systemic therapy

===Congenital syphilis===
*'''Aqueous penicillin G: 50,000 units/kg/dose IV every 12 hours''' (age <7 days) or '''every 8 hours''' (age ≥7 days) for '''10 days'''<ref name="StatPearls"/>
*Alternative: '''Procaine penicillin G 50,000 units/kg IM daily''' for 10 days (if IV not feasible)
*Normal neonate born to adequately treated mother (≥4 weeks before delivery): single dose '''benzathine penicillin G 50,000 units/kg IM''' may suffice
*'''No alternative to penicillin''' — penicillin-allergic infants require desensitization

===Congenital toxoplasmosis===
*'''Pyrimethamine''' (loading dose 2 mg/kg/day for 2 days, then 1 mg/kg/day) + '''sulfadiazine''' (50 mg/kg/dose BID) + '''leucovorin''' (10 mg 3 times weekly) for '''12 months'''<ref name="CDC_Toxo">Clinical Care of Toxoplasmosis. ''CDC''. 2024.</ref>
*Leucovorin (folinic acid) is '''mandatory''' to prevent pyrimethamine-induced bone marrow suppression
*'''Do NOT substitute folic acid for leucovorin''' — folic acid antagonizes pyrimethamine's therapeutic effect while leucovorin selectively rescues marrow
*Add '''corticosteroids''' (prednisone 0.5 mg/kg BID) if CSF protein >1 g/dL or vision-threatening chorioretinitis
*'''Weekly CBC''' while on pyrimethamine (monitor for neutropenia, anemia, thrombocytopenia)

===Congenital CMV===
*'''Valganciclovir''' (oral) or '''ganciclovir''' (IV) for moderate-to-severe symptomatic congenital CMV<ref name="AMBOSS"/>
*Valganciclovir 16 mg/kg/dose BID orally for 6 months is current standard
*Goal is to preserve hearing and neurodevelopmental outcomes
*'''Not routinely initiated in the ED''' — refer to infectious disease/neonatology for treatment decisions
*Monitor for neutropenia, thrombocytopenia, hepatotoxicity

===Congenital rubella===
*'''No specific antiviral treatment'''
*Supportive management of cardiac defects, cataracts, hearing loss
*'''Infectious for up to 1 year''' — isolation precautions; notify public health

===General supportive measures for all congenital infections===
*Vitamin K (if cholestatic — fat-soluble vitamin malabsorption)
*Treat [[Neonatal hepatitis|conjugated hyperbilirubinemia]] per workup
*Nutritional support (MCT-enriched formula if cholestatic)
*Seizure management
*Hearing evaluation (ABR) for all
*Ophthalmologic examination for all
*Developmental follow-up

==Disposition==
*'''All neonates with suspected congenital infection should be admitted''' — most will require NICU-level care
*'''HSV:''' start acyclovir in the ED; admit to NICU; infectious disease consultation
*'''Syphilis with positive RPR or symptomatic:''' admit; start IV penicillin after LP; involve infectious disease
*'''CMV, toxoplasmosis:''' admit for confirmatory testing, neuroimaging, ophthalmologic evaluation, and treatment initiation
*'''Well-appearing infant with isolated conjugated hyperbilirubinemia:''' may be evaluated urgently as outpatient (see [[Neonatal hepatitis]]) but ensure TORCH-specific testing is sent and follow-up is reliable
*'''Notify:''' congenital syphilis and rubella are '''reportable diseases''' — contact public health

==See Also==
*[[Neonatal hepatitis]]
*[[Neonatal jaundice]]
*[[Neonatal HSV]]
*[[Neonatal sepsis]]
*[[Biliary atresia]]
*[[Tyrosinemia]]
*[[Galactosemia]]
*[[Sensorineural hearing loss]]

==External Links==
*[https://www.ncbi.nlm.nih.gov/books/NBK560528/ StatPearls — TORCH Complex]
*[https://www.cdc.gov/toxoplasmosis/hcp/clinical-care/index.html CDC — Clinical Care of Toxoplasmosis]
*[https://pmc.ncbi.nlm.nih.gov/articles/PMC3685871/ PMC — Treatment of HSV Infections in Pediatric Patients]
*[https://pmc.ncbi.nlm.nih.gov/articles/PMC321459/ Clin Microbiol Rev — Neonatal Herpes Simplex Infection]
*[https://www.merckmanuals.com/professional/pediatrics/infections-in-neonates/neonatal-herpes-simplex-virus-hsv-infection Merck Manual — Neonatal HSV Infection]
*[https://clinicalinfo.hiv.gov/en/guidelines/hiv-clinical-guidelines-pediatric-opportunistic-infections/herpes-simplex-virus NIH — Herpes Simplex Virus: Pediatric OIs]

==References==
<references/>

[[Category:Pediatrics]]
[[Category:ID]]

TORCH infections - Revision history

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