Congenital syphilis

Congenital syphilis
Notched incisors known as Hutchinson's teeth which are characteristic of congenital syphilis
Specialty	Infectious diseases
Symptoms	Rash, fever, large liver and spleen, skeletal abnormalities[1]
Usual onset	Unborn baby, newborn baby or later[1]
Duration	Lifelong
Types	Early & late[2]
Causes	Treponema pallidum[2]
Diagnostic method	Signs, symptoms, blood tests, CSF tests
Prevention	Adequate screening and treatment in pregnant mother[2]
Treatment	Antibiotic
Medication	Penicillin by injection; Procaine benzylpenicillin, benzylpenicillin, benzathine penicillin G[3]

Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at birth.^[1] It may present in the unborn baby, newborn baby or later.^[1] Signs and symptoms vary and include no symptoms, loss of pregnancy, reduced growth of the unborn baby, premature birth, disease in the newborn baby, and death of a baby.^[2] Affected newborns typically present with a runny nose, rash, fever, large liver and spleen, and inflammation around bone or cartilage.^[2] There may be jaundice, meningitis, deafness or blindness.^[4] Untreated babies that survive the early phase enter a late phase and may develop skeletal deformities including saddle nose deformity, saber shin, small notched teeth, prominent forehead, and recurrent joint disease.^[2]

It is caused by the bacterium Treponema pallidum subspecies pallidum when it is transmitted from mother to baby during pregnancy or at birth.^[1] Tests may include blood tests, CSF analysis and medical imaging.^[5] Other investigations include testing for HIV.^[5]

Prevention is by safe sex to prevent syphilis in the mother, and early screening and treatment of syphilis in pregnancy.^[4] Treatment is with penicillin by injection; benzylpenicillin into vein, or procaine benzylpenicillin or benzathine penicillin G into muscle.^[3][5] During times of penicillin unavailability, ceftriaxone may be an alternative.^[5] Where there is penicillin allergy, antimicrobial desensitisation may be considered.^[5][6]

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 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.^[8]

Signs and symptoms

Untreated early syphilis infections results in a high risk of poor pregnancy outcomes, including saddle nose, lower extremity abnormalities, miscarriages, premature births, stillbirths, or death in newborns. Some infants with congenital syphilis have symptoms at birth, but many develop symptoms later. Symptoms may include rash, fever, large liver and spleen, and skeletal abnormalities.^[9] Newborns will typically not develop a primary syphilitic chancre but may present with signs of secondary syphilis (i.e. generalized body rash). Often these babies will develop syphilitic rhinitis ("snuffles"), the mucus from which is laden with the T. pallidum bacterium, and therefore highly infectious. If a baby with congenital syphilis is not treated early, damage to the bones, teeth, eyes, ears, and brain can occur.^[9]

Early

This is a subset of cases of congenital syphilis. Newborns may be asymptomatic and are only identified on routine prenatal screening. If not identified and treated, these newborns develop poor feeding and runny nose.^[9] By definition, early congenital syphilis occurs in children between 0 and 2 years old.^[10]

Late

Late congenital syphilis is a subset of cases of congenital syphilis. By definition, it occurs in children at or greater than 2 years of age who acquired the infection trans-placentally.^[10]

Symptoms include:^[11]

• Blunted upper incisor teeth known as Hutchinson's teeth
• Deafness from auditory nerve disease
• Frontal bossing (prominence of the brow ridge)
• Hard palate defect
• Inflammation of the cornea known as interstitial keratitis
• Protruding mandible
• Saber shins
• Saddle nose (collapse of the bony part of nose)
• Short maxillae
• Swollen knees

A frequently-found group of symptoms is Hutchinson's triad, which consists of Hutchinson's teeth (notched incisors), keratitis and deafness and occurs in 63% of cases.^[11]

Treatment (with penicillin) before the development of late symptoms is essential.^[12]

• Abnormal x-rays^{[citation needed]}
• Anemia^[13]
• Cerebral palsy
• Du Bois sign, narrowing of the little finger^{[citation needed]}
• Enlarged liver^[1]
• Enlarged spleen^[1]
• Frontal bossing^{[citation needed]}
• Sensorineural hearing loss
• Higouménakis' sign, enlargement of the sternal end of clavicle in late congenital syphilis^{[citation needed]}
• Hutchinson's triad, a set of symptoms consisting of deafness, Hutchinson's teeth (centrally notched, widely spaced peg-shaped upper central incisors), and interstitial keratitis (IK), an inflammation of the cornea which can lead to corneal scarring and potential blindness^{[citation needed]}
• Hydrocephalus
• Jaundice^{[citation needed]}
• Lymph node enlargement^{[citation needed]}
• Mulberry molars (permanent first molars with multiple poorly developed cusps)^[14]
• Musculoskeletal deformities
• Petechiae
• Poorly developed maxillae^{[citation needed]}
• Pseudoparalysis^{[citation needed]}
• Rhagades, linear scars at the angles of the mouth and nose result from bacterial infection of skin lesions
• Snuffles, aka "syphilitic rhinitis", which appears similar to the rhinitis of the common cold, except it is more severe, lasts longer, often involves bloody rhinorrhea, and is often associated with laryngitis^[15]
• Sabre shins^{[citation needed]}
• Skin rash^[1]

Death from congenital syphilis is usually due to bleeding into the lungs.

Diagnosis

Serological testing is carried out on the mother and the infant. 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.^[16]

Treatment

If a pregnant mother is identified as being infected with syphilis, treatment can effectively prevent congenital syphilis from developing in the fetus, especially if she is treated before the sixteenth week of pregnancy.^[2] The fetus is at greatest risk of contracting syphilis when the mother is in the early stages of infection, but the disease can be passed at any point during pregnancy, even during delivery (if the child had not already contracted it). A woman in the secondary stage of syphilis decreases her fetus's risk of developing congenital syphilis by 98% if she receives treatment before the last month of pregnancy.^[17] An affected child can be treated using antibiotics much like an adult; however, any developmental symptoms are likely to be permanent.^[18]

Kassowitz's law is an empirical observation used in context of congenital syphilis stating that the greater the duration between the infection of the mother and conception, the better the outcome for the infant. Features of a better outcome include less chance of stillbirth and of developing congenital syphilis.^[19]

The Centers for Disease Control and Prevention recommends treating symptomatic or babies born to an infected mother with unknown treatment status with procaine penicillin G, 50,000 U/kg dose IM a day in a single dose for 10 days.^[20] Treatment for these babies can vary on a case-by-case basis. Treatment cannot reverse any deformities, brain, or permanent tissue damage that has already occurred.^[18]

A Cochrane review found that antibiotics may be effective for serological cure but in general the evidence around the effectiveness of antibiotics for congenital syphilis is uncertain due to the poor methodological quality of the small number of trials that have been conducted.^[21]

Epidemiology

In 2016, there were around 473 cases of congenital syphilis per 100,000 live births and 204,000 deaths from the disease worldwide.^[7] In 2017, 660,000 cases were reported worldwide.^[1]

Cases in the United States have been increasingly rising in the 2010s. The Centers for Disease Control and Prevention (CDC) reported 918 cases for 2017, what is more than twice the figures of four years earlier.^[22] Reports in 2023 show a rise of more than 900 percent in Mississippi over five years.^{[23][24][25][26]}

References

External links

Media related to Congenital syphilis at Wikimedia Commons