Congenital Syphilis

Congenital syphilis
Early onset rash of congenital syphilis
Specialty	Infectious disease
Symptoms	Early: No symptoms, small baby, rash, fever, large liver and spleen, congested nose, jaundice, large glands, seizures, cranial nerve disease, warty bumps on genitals, cataracts, irritability[1] Late: Skeletal abnormalities, intellectual disability, hydrocephalus, general paresis[1]
Usual onset	Unborn baby, at birth, infancy, and later[2]
Types	Early onset (0-2-years age)[1] Late onset (older than 2-years)[1]
Causes	Spread from mother to baby of untreated syphilis (Treponema pallidum) during pregnancy or at birth[2]
Diagnostic method	Before birth: Blood tests, ultrasound[3] After birth: Symptoms, blood tests, CSF tests, medical imaging[4]
Prevention	Safe sex, adequate screening, early treatment in pregnancy[5]
Treatment	Antibiotics[6]
Medication	Penicillin by injection; Benzylpenicillin (IV), procaine benzylpenicillin (IM), benzathine penicillin G (IM)[6]
Frequency	473 per 100,000 live births worldwide (2016)[7]
Deaths	204,000 worldwide (2016)[7]

Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy.^[1] It may be detected in the unborn baby as poor growth, excessive fluid leading to premature birth, or loss of the baby; though some have no signs.^[2][8] Features vary widely and may be divided into whether they present before or after age 2-years.^[1] Typically there are no signs in the first few weeks of life; though babies may be small and irritable.^[1] Features may include fever, rash, large liver and spleen, runny nose, or bone or joint pain.^[1][4] There may be yellowish skin and eyes, large glands, pneumonia, meningitis, warty bumps on genitals, deafness, or blindness.^[1][5] Untreated babies that survive may develop deformities of the nose, lower legs, forehead, collar bone, jaw, or cheek bone.^[1] There may be a perforated or high arched palate, joint disease, and intellectual disability.^[1][4] Seizures and cranial nerve palsies may occur in both early and late phases.^[1]

It is caused by the bacterium Treponema pallidum subspecies pallidum when it infects the baby after crossing the placenta during pregnancy or from contact with a syphilitic sore at birth.^[1][8] It is not transmitted during breastfeeding unless there is a syphilitic sore on the mother's breast.^[1] Most cases occur due to inadequate screening and treatment during pregnancy.^[9] The baby is highly infectious if the rash and snuffles are present.^[1] The disease may be suspected from tests on the mother; blood tests and ultrasound.^[3] Tests on the baby may include blood, CSF, and medical imaging.^[10] Findings may reveal low red blood, low platelets, low sugars, protein in the urine, or low thyroid.^[1] The placenta may appear large and pale.^[1] Other investigations include testing for HIV.^[10]

Prevention is by safe sex to prevent syphilis in the mother, and early screening and treatment in pregnancy.^[5] One intramuscular injection of benzathine penicillin G given to a pregnant woman early in the illness can prevent congenital syphilis in her baby.^[11] Treatment of suspected congenital syphilis is with penicillin by injection; benzylpenicillin, procaine benzylpenicillin, or benzathine penicillin G.^[6][10] During times of penicillin unavailability, ceftriaxone may be used.^[10] If there is a penicillin allergy, desensitisation may be an option.^[10][12]

Syphilis affects around a million pregnancies a year.^[13] In 2016, there were around 473 cases of congenital syphilis per 100,000 live births and 204,000 deaths from the disease worldwide.^[7] Of 660,000 cases reported in 2016, 143,000 resulted in deaths of unborn babies, 61,000 deaths of newborn babies, 41,000 low birth weights or preterm births, and 109,000 young children diagnosed with congenital syphilis.^[14] Around 75% were from the African and Eastern Mediterranean regions.^[4] The cost of preventing syphilis in the mother and baby and in treating the disease is generally inexpensive.^[11][15] The disease was first described in the sixteenth century.^[16] Blood tests for syphilis were introduced in 1906, and it was later shown that spread occurred from the mother.^[17]

Signs and symptoms[edit | edit source]

Congenital syphilis may present in the unborn baby, newborn baby or later.^[2] Clinical features vary and some differ between early onset, that is presentation before age 2-years of age, and late onset, presentation after age 2-years.^[1] Infection in the unborn baby may present as poor growth, non-immune hydrops leading to premature birth or loss of the baby, or no signs.^[1][4] Affected newborns mostly initially have no clinical signs.^[1] If they have symptoms, they are more likely to be quite sick. ^[8] These babies are typically small, dehydrated, malnourished, and irritable.^[1][8] They characteristically present with a rash, fever, large liver and spleen, and may have a runny and congested nose, and leg pain.^[1][4] There may be jaundice, large glands, pneumonia, meningitis, warty bumps on genitals, deafness or blindness.^[1][5] Signs in the eyes are less frequent.^[1] Untreated babies that survive the early phase may develop skeletal deformities.^[1][4] Seizures and cranial nerve palsies may first occur in both early and late phases.^[1]

Early[edit | edit source]

Rash[edit | edit source]

The rash in a newborn is a prominent feature.^[1] It may appear as light coloured patches on the legs and face, dark spots on the soles of feet, small bumps around the mouth, or widespread peeling skin with blisters.^[1]

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  Rash of congenital syphilis

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  Rash of congenital syphilis

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  Erosive lesions over natal cleft

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  Erosive lesion over genitals

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  Congenital syphilis rash

Rhinitis[edit | edit source]

Some babies present with the snuffles; initially clear discharge, it may later become purulent or blood tinged.^[1]

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  Runny and congested nose

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  High arched palate, oral fissures, and runny and congested nose

Bone pain[edit | edit source]

Refusal to move a limb in an infant may result from inflammation around bone or cartilage.^[1]

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  Swollen elbow

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  Swollen joints (age 2-months)

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  Swollen knee

Eyes[edit | edit source]

Eye findings include glaucoma, cataracts, chorioretinitis and uveitis.^[1]

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  Congenital syphilis corneal keratitis

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  Congenital syphilis cataract

Other early signs[edit | edit source]

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  13-day-old infant with cleft lip

Late[edit | edit source]

Late onset features include deformity of the nose, lower legs, forehead, collar bone, jaw, and cheek bone.^[1] Some of these bone defects can be detected early.^[16] There may be a perforated or high arched palate, and recurrent joint disease.^[1][4] Other late signs include scarred skin, intellectual disability, hydrocephalus, and juvenile general paresis.^[1] Eighth nerve palsy, interstitial keratitis and small notched teeth may appear individually or together; known as Hutchinson triad.^[1][18]

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  Late onset: Deformity of nose and palate

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  Hutchinson's teeth

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  Mulberry molar

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  Absent teeth

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  Perforation of palate

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  Perforated hard palate

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  Saddle nose

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  Gumma of face

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  Frontal bossing, mulberry molars, Hutchinson teeth, saddle nose, cataract in right eye

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  Du Bois sign

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  Clutton's joints

Cause[edit | edit source]

Congenital syphilis is caused by the bacterium Treponema pallidum subspecies pallidum when it infects the baby after crossing the placenta or from contact with a syphilitic sore at birth.^[1][8] It is not transmitted during breastfeeding unless there is an open sore on the mother's breast.^[1] The unborn baby can become infected at any time during the pregnancy, and risk of infection is greater as the pregnancy progresses.^[1] The previously held theory that infection generally could not occur in the first 4-months of pregnancy has been disproved.^[1]

Diagnosis[edit | edit source]

The disease may be suspected from tests on the mother; blood tests and ultrasound.^[3] No specific ultrasound finding precisely indicates congenital syphilis but a large liver or spleen, bowel abnormalities, poor growth, ascites, and hydrops, suggest a syphilis work-up.^[19] Babies with large livers, bone damage and skin lesions suggestive of congenital syphilis also require testing.^[19]

Tests may include dark field microscopy.^[3] Serological testing is carried out on the mother and the baby; venereal disease research laboratory (VDRL) and rapid plasma reagin (RPR) tests.^[3] If the neonatal IgG antibody titres are significantly higher than the mother's, then congenital syphilis can be confirmed. Specific IgM in the infant is another method of confirmation. CSF pleocytosis, raised CSF protein level and positive CSF serology suggest neurosyphilis.^[20]

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  Wimberger corner sign

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  Wimberger corner sign; X-rays of (a) lower limbs (AP view) and (b) upper limbs (AP view) showing resolution of metaphyseal erosions and periosteal reaction

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  a) X-ray of the lower limb (AP view) showing proximal tibial metaphyseal erosions along with periosteal reaction and (b) X-ray of the upper limb (AP view) showing distal tibial and fibular metaphyseal erosions with periosteal reaction

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  CT PNS showing the bilateral maxillary and nasal polyps

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  CT PNS showing the perforation of right side of hard palate

Prevention[edit | edit source]

Prevention is by safe sex to prevent syphilis in the mother, and early screening and treatment of syphilis in pregnancy.^[5][11] One intramuscular injection of benzathine penicillin G (2.4MIU) administered to a pregnant woman early in the illness can prevent congenital syphilis in her baby.^[11]

Treatment[edit | edit source]

Treatment of suspected congenital syphilis is with penicillin by injection; benzylpenicillin into vein (50,000 units/kg twice daily during the first 7 days of life and three times daily thereafter for a total of 10 days), or procaine benzylpenicillin into muscle (50,000 units/kg in a single daily dose for 10 days) or benzathine penicillin G into muscle (50,000 units/kg in a single dose).^[6][10] During times of penicillin unavailability, ceftriaxone may be used.^[10] Where there is penicillin allergy, antimicrobial desensitisation may be considered.^[10][12]

Epidemiology[edit | edit source]

Syphilis affects around one million pregnancies a year.^[13] In 2016, there were around 473 cases of congenital syphilis per 100,000 live births and 204,000 deaths from the disease worldwide.^[7] Of the 660,000 congenital syphilis cases reported in 2016, 143,000 resulted in deaths of unborn babies, 61,000 deaths of newborn babies, 41,000 low birth weights or preterm births, and 109,000 young children diagnosed with congenital syphilis.^[14] Around 75% were from the WHO's African and Eastern Mediterranean regions.^[4]

History[edit | edit source]

The origin of syphilis is unclear.^[21] The disease was first described in children in the sixteenth century, and thought to be due to breastfeeding.^[16] Nineteenth century physicans believed that congenital syphilis was acquired from semen ("semen inheritance") at the time of conception, and the unborn baby then transmitted it to the mother via the placenta.^[17] This false theory was used to explain why the mother was typically without symptoms until after childbirth.^[17] Then, the condition was popularly known as the "snuffles".^[22] Serological tests for syphilis were introduced in 1906, and it was later shown that transmission occurred from the mother.^[17]

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  Gérard de Lairesse, Dutch Baroque painter who suffered from congenital syphilis.

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  Inheritance by Edvard Munch (1899)

See also[edit | edit source]

• Maternal infections that can affect the baby

References[edit | edit source]

External links[edit | edit source]

Classification	ICD-10: A50 ICD-9-CM: 090 MeSH: D013590 DiseasesDB: 12744 SNOMED CT: 35742006
External resources	MedlinePlus: 001344 eMedicine: ped/2193