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Clinical Brief
Congenital Bilateral Microphthalmos After Gestational Syphilis Rosa M. Navas1,4, Reinaldo Parra2, Maivelys Pacheco3, Jimena Gomez4, Iris Bermudez 5 and Alfonso J. Rodriguez-Morales4 1
Obstetrics & Gynecology and 2Ophthalmology Departments, Simon Bolivar General Hospital, Ocumare del Tuy,
Miranda, Venezuela.
3 Pediatrics Department, Maternal-Children Hospital, Macuto, Vargas, Venezuela
4 Collaborative Group of Clinical Infectious Diseases Research, Caracas, Venezuela.
5 Ophthalmology Department, Caracas Universitary Hospital, Caracas, Venezuela.
ABSTRACT Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis. [Indian J Pediatr 2006; 73 (10): 935-936] E-mail :
[email protected]
Key words : Syphilis; Microphthalmos; Anophthalmos; Pregnancy
Congenital microphthalmos and anophthalmos are rare conditions in which orbital growth is deficient. 1 The overall prevalence of congenital anophthalmos and microphthalmos has been estimated at 1 to 1.5 per 10,000 births,1,2 with a normal sex distribution. Microphthalmos is unilateral in three-quarters of cases and no consistent hereditary basis has been found.1 Extrinsic causes such as maternal rubella or environmental teratogens are often suspected.3 Other infectious agents such as toxoplasmosis, herpes, rubella and cytomegalovirus have been previously associated,4,5 but rarely Treponema pallidum. 6,7 For these reasons we report a case of bilateral microphthalmos in which her mother presented gestational syphilis.
(FTA-ABS) tests were positive (IgM negative); and a 1/16 titer positive hemagglutination assay – Treponema pallidum test. The patient had no previous history of genital or other syphilitic lesions as well other possible infectious and environmental teratogens exposure, such as rubella, toxoplasmosis or additional intra-uterine infections. Mother was initially treated with benzathine penicillin G (non-specified dose). After this, the mother referred never returns for prenatal periodical evaluations. This pregnant woman presented to us on February 2005, for delivery. Physical examination at birth revealed that the infant was noted to have low ears implantation and bilateral microphthalmos Fig. 1 and 2 Examination of the skin revealed vesicular skin lesions involving the hands, neck,
CASE REPORT A 3100-g female infant was born after 38 weeks gestation. The mother, a 17-year-old woman (gravida II, para II), underwent a normal delivery. At 8 gestational weeks, the pregnancy was complicated by a 1-week long maternal flulike illness consisting of fever. Results of serological testing for venereal disease research laboratory (VDRL) and IgG fluorescent treponemal antibody absorbance
Correspondence and Reprint requests : Dr. Rosa M. Navas, C.R. Los Angeles, T-2, 10-2. Sec. Pque. Cigarral, Urb. La Boyera, Caracas 1083, Venezuela.
Indian Journal of Pediatrics, Volume 73—October, 2006
Fig. 1. Photograph of infant, showing low right ear implantation and severely hypoplastic right eye.
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Fig. 2. Photograph of infant, showing severely hypoplastic eyes (bilateral) (bilateral microphthalmos).
and genitals. The oral mucosa and nails were normal. Weight and length at birth were over to the 50th percentile of national growth curves, and head circumference was at the 25th percentile. A complete clinical evaluation showed no other systemic alterations. The WBC count was 7100 cells/mm 3, with 19% polymorphonuclear neutrophils, 77% lymphocytes, 0% monocytes, and 4% eosinophils. The hematocrit was 46%, the platelet count was 215 platelets/mm 3, and the caryotype was normal (46XX). The child's and mother's results (after delivery) of serological testing for VDRL and IgG FTA-ABS tests were positive (IgM negative); and a 1/ 2 titer positive hemagglutination assay-Treponema pallidum test, for birth. Child's treatment was aqueous crystalline penicillin G (50,000 u/Kg/dose IV q8-12h x 14 d). Mother was treated with benzathine penicillin G (2.4 mU IM x 2). After 4 months of follow-up, serological tests are negative for both. Now, the child is under evaluation for possible surgical management of microphthalmos.1 DISCUSSION Infectious diseases causes of microphthalmos include maternal rubella,3 Toxoplasma gondii,4 cytomegalovirus,5 herpes simplex virus, varicella-zoster virus, among others. 2,3 In other hand, ocular lesions observed in congenital syphilis are reported to be chorioretinitis, interstitial keratitis, iridocyclitis, pigment epithelial dystrophies, 8 but rarely microphthalmos. 6,7 Bilateral microphthalmos is often associated with craniofacial and systemic abnormalities in a diverse group of disorders ranging from congenital rubella syndrome to Warburg's syndrome. 9 To our knowledge, after an extensive review of medical literature, we consider this is the first case in South America in which gestational
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syphilis is associated to this congenital anomaly, and the first published worldwide in the last 40 years. 6,7 The persistence of congenital syphilis cases contributes to increases infant mortality, maternal mortality and HIV transmission that region of America. From the data submitted to the Pan American Health Organization (PAHO) by nationwide programs against sexually transmitted diseases (STD), HIV infection, and AIDS (2002), one can estimate the overall prevalence of syphilis among pregnant women to be 3.1% and to range from 1.00% in Peru to 6.21% in Paraguay. According to these data, the incience of congenital syphilis ranges from 1.4per 1,000 live births in EI Salvador to 12.0 per 1,000 liver births in Honduras.10 The current occurrence of cases like the presented herein and these figures calls for the need to prevent a disease with many devastating complications, such as microphthalmos that was previously described just in the first half of the 20th century. Finally although the etiology of microphthalmos is varied,6 diseases such as syphilis, should be prevented during pregnancy, thus avoiding this unnecessary risk. REFERENCES 1. Krastinova D, Kelly MB, Mihaylova M. Surgical management of the anophthalmic orbit, part 1 : congenital. Plast Reconstr Surg 2001; 108 : 817-826. 2. Dolk H, Busby A, Armstrong BG, Walls PH. Geographical variation in anophthalmia and microphthalmia in England. 1988-94. BMJ 1998; 317 : 905-909. 3. O'Keefe M, Webb M, Pashby RC, Wagman RD. Clinical anophthalmos. Br J Ophthalmol 1987; 71 : 635-638. 4. Meenken C, Assies J, Van Nieuwenhuizen O, Holwerda-van der Maat WG, van Schooneveld MJ, Delleman WJ, Kinds G, Rothova A. Long term ocular and neurological involvement in severe congenital toxoplasmosis. Br J Ophthalmol 1995; 79 : 581 584. 5. Tsutsui Y, Kashiwai A, Kawamura N. Kadota C. Microphthalmia and cerebral atrophy induced in mouse embryos by infection with murine cytomegalovirus in midgestation. Am J Pathol 1993; 143 : 804-813. 6. Duke-Elder S. Chapter XIII. Congenital deformities of the eyeI Anomalies in organogenesis (Vol. III. Normal and abnormal development. Part 2. Congenital deformities). In : Duke-Elder S. System of Ophthalmology. London, Henry Kimpton, 1964; 415 495. 7. Weill G. Hereditary syphilis in oto-neuro-ophthalmology. Rev d'Oto-neuro-opht 1929; 7 : 669s 8. Francois J. Embryological pigment epithelial dystrophies. Ophthalmologica 1976; 172 : 417-433. 9. Ainbinder DJ, Haik BG, Mazzoli RA. Anophthalmic socket and orbital implants. Role of CT and MR imaging. Radiol Clin North Am 1998; 36 : 1133-1147. 10. Valderrama J, Zacarias F, Mazin R. Sifilis materna y sifilis congenita en America Latina : un problema grave de solucion sencilla. Rev Panam Salud Publica 2004; 16 : 211-217.
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