University of Alabama at Birmingham 2005 Case #7 Universidad Peruana Cayetano Heredia
This past week, the annual field trip to Cusco in the Andean highlands took place.  Cusco (elevation 3400m) is the oldest continuously inhabited city in the Americas.  The following patient was seen on the medical ward at the Regional Hospital of Cusco.
Image for 03/07/05History:  10-month old female born with red vesicular skin lesions from knee to toe which spread over the next several weeks to involve the feet (including the soles), hands (including the palms), and oral mucosa.  A persistent nasal discharge was also noted.  She was treated with a variety of oral and topical antibiotics over the next months without response.  A fever developed at 5 months of age and the patient was treated with 5 days of IM penicillin with resolution of fever and marked improvement of the skin lesions.  In recent months the skin lesions have recurred and continue to progress.  Breastfeeding has continued throughout.

Epidemiology:  Born in a rural jungle area of Madre de Dios.  Mother HIV negative prenatally, has a recurrent vaginal discharge which has been diagnosed as bacterial vaginosis.

Physical Examination:  Weight 11 kg.  Afebrile.  Mild hepatosplenomegaly.  Saddle nose deformity [Image A].  Normal teeth with vesicular lesions in the oral mucosa.  Skin examination as in Images B-D and lesions extended to the palms and soles [Image E].  Neurologic exam normal and neurologic milestones have been normal to date.

Laboratory Examination:  Hct. 35.  WBC 8.8 with 60 neutrophils, 2 bands, 28 lymphs, 8 monos,and 2 eosinophils.  X-ray of legs and feet normal.  Chest x-ray normal.

 

 

 

 

Diagnosis:  Congenital syphilis.
Discussion:  RPR in the child is positive.  The mother is RPR and FTA-ABS positive and the father is RPR positive.  Appropriate pre and peri-natal testing and follow-up of the mother had not been performed.  Serial dilutions are not routinely done in the local laboratory.  On questioning the father recalled a genital ulcer 3 years previously that was not treated.  Darkfield microscopy is not available at this hospital but if done the ulcerative lesions would have been found teeming with spirochetes and such lesions are highly infectious.

The diagnosis of syphilis is confirmed, according to CDC guidelines if T. pallidum is directly visualized in skin lesions, placenta, umbilical cord, or autopsy.  The diagnosis is considered presumptive if the child has a positive serologic test for syphilis and any one of:

  • Compatible findings on physical examination;
  • CSF abnormalities including positive VDRL, increased white blood cell count (WBC), or elevated protein;
  • Osteitis on radiography of long bones;
  • Placentitis or funisitis;
  • or a Nontreponemal test fourfold higher than the maternal result on the same test.

Clinically, untreated syphilis in the mother most often manifests in utero and results in intrauterine death, stillbirth and peri-natal death of live-born infants.  Of those born alive, two-thirds of infants with congenital syphilis are asymptomatic at birth, reinforcing the need for appropriate perinatal screening of the mother.  No infant or mother should leave the hospital unless the maternal serologic status has been documented at least once during pregnancy and preferably again at delivery.  Routine screening of newborn serum or cord blood is not recommended and should only be done in the face of a positive maternal test.

Those with early manifestations (<2 yrs of age) have variable symptoms that frequently appear in the first weeks of life.  Skin lesions, if present, frequently occur on the palms and soles and our patient?s ulcerative and non-ulcerative manifestations well demonstrate the spectrum of cutaneous disease.  Other manifestations include hepatosplenomegaly, jaundice, anemia, and occasionally snuffles (as in our patient).  Periostitis may be noted on radiographs but was not seen in our patient.  Late congenital findings result from missed diagnosis earlier in life and are the result of ongoing tissue scarring.  These do not occur if the child is adequately treated in the first 3 months of life.  Manifestations can include frontal bossing, short maxilla, high palatal arch, Hutchinson triad (Hutchinson teeth [blunted upper incisors], interstitial keratitis, and eighth nerve deafness), saddle nose (present in our patient), and perioral fissures.

In retrospect the 5 days of IM penicillin at 5 months of age resulted in a partial treatment of the syphilis.  Lumbar puncture in the child should generally be performed but is rarely abnormal.  Our patient will be treated with crystalline Penicillin 50,000U/kg/day IV for 10 days.  The 5 other children at home will have serology performed.  The mother and father will be treated with Benzathine Penicillin G 2.4MU per week IM for 3 weeks.