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Congenital infections (TORCH)
Each congenital infection leaves its own "signature" — CMV periventricular calcifications and deafness, toxoplasmosis diffuse calcifications and hydrocephalus, rubella cataract and heart defect, syphilis snuffles and a palm-and-sole rash; CMV is the most common congenital infection and the leading non-genetic cause of deafness.
Why it matters in the exam
The question presents a small-for-gestational-age newborn with microcephaly, petechiae, hepatosplenomegaly and the result of an imaging or eye examination, and asks for the pathogen. The distinction is made by the special sign: the location of brain calcifications, cataract, a heart defect or snuffles. Other questions ask how congenital CMV is diagnosed — PCR in urine or saliva in the first three weeks — and who receives valganciclovir.
In neonatal herpes simplex (HSV) infection is usually acquired during delivery, and disease appears at 5–21 days as skin-eye-mouth disease, encephalitis or disseminated disease; every newborn with suspected HSV receives IV acyclovir 60 mg/kg per day in three doses (14 days for localised disease, 21 days for CNS or disseminated disease), followed by oral suppressive therapy. Congenital syphilis is treated with IV penicillin G for 10 days.
In varicella, maternal varicella starting between 5 days before and 2 days after birth requires VZIG for the newborn, and early-pregnancy infection causes skin scarring and limb hypoplasia. In toxoplasmosis the newborn is treated with pyrimethamine, sulfadiazine and folinic acid for one year. In symptomatic CMV, oral valganciclovir for 6 months, started in the first month, improves hearing and development.
Key points
- CMV is the most common congenital infection and the leading non-genetic cause of deafness.
- Diagnosis of congenital CMV: PCR in urine or saliva before 21 days of age.
- Periventricular calcifications = CMV; diffuse = toxoplasmosis.
- Neonatal HSV: IV acyclovir 60 mg/kg per day at once on suspicion.
- Congenital syphilis: IV penicillin G for 10 days.
Summary table
| Pathogen | Newborn signature | Diagnosis | Treatment |
|---|---|---|---|
| CMV | Periventricular calcifications, microcephaly, sensorineural deafness, petechiae | PCR in urine or saliva by 21 days of age | Valganciclovir for 6 months in symptomatic disease |
| Toxoplasmosis | Diffuse calcifications, hydrocephalus, chorioretinitis | IgM/IgA and PCR | Pyrimethamine, sulfadiazine and folinic acid for one year |
| Rubella | Cataract, PDA or pulmonary artery stenosis, deafness, "blueberry muffin" rash | IgM and PCR | Supportive; prevention by vaccination before pregnancy |
| Syphilis | Snuffles, palm and sole rash, hepatomegaly, periostitis | Quantitative VDRL/RPR compared with the mother, direct testing | IV penicillin G for 10 days |
| HSV | Vesicles, seizures, disseminated disease at 5–21 days | PCR from skin, mucosa, blood and CSF | Acyclovir 60 mg/kg per day for 14–21 days |
| Varicella | Early infection: skin scars and limb hypoplasia; perinatal: severe disease | Clinical and PCR | VZIG for the newborn when maternal illness is around delivery; acyclovir |
Free exam questions
מה יש לעשות בעקבות קבלת תשובה חיובית ל- CMV בבדיקה ברוק ביילוד שניזון מהנקה ושנלקחה ממנו עקב לידה במשקל נמוך לגיל ההיריון? (the question as examined, in Hebrew)
- א. להתחיל טיפול ב– Valgancyclovir בשל CMV מחלת .מולדת
- ב. לבקש דגימת רוק נוספת של היילוד ולחזור על הבדיקה
- ג. לאמת את האבחנה על ידי בדיקת שתן CMV PCR
- ד. לאמת את האבחנה על ידי בדיקת CMV PCR .בדם
אצל ילוד בן שבוע שנולד במועד ש מעקב ההיריון שלו היה דל, הופיעו .פרכוס כללי ופריחה פטכיאלית בבדיקה גופנית לציין צהבת ,הפטוספלנומגליה, ו כוריורטיניטיס. בב דיקות העזר לציין הידרוצפלוס ב- US מוח והסתיידויות אינטרה- ( קרניאליות intra-cranial calcifications ) ב- MRI איזה מבין הבאים הוא המחולל הסביר ביותר של ?מחלתו (the question as examined, in Hebrew)
- א. Herpes simplex virus
- ב. Toxoplasmosis
- ג. Treponema pallidum
- ד. Zika virus
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Sources
- AAP Red Book: Report of the Committee on Infectious Diseases, 2024–2027 — Cytomegalovirus, Toxoplasmosis, Rubella, Syphilis and Herpes Simplex chapters
- International Congenital Cytomegalovirus Recommendations Group consensus, 2017 (updated 2024) — Diagnosis and antiviral treatment of congenital CMV
- Nelson Textbook of Pediatrics, 22nd edition (2024) — Infections of the Neonatal Infant
Sources are given for further reading; the text is written afresh and not copied from them.
Reviewed by the Examqo AI Professor · 2026-11-06. The text may contain errors; when in doubt, check the source.