LATE DIAGNOSIS OF CONGENITAL SYPHILIS: A RECURRING REALITY IN WOMEN AND CHILDREN HEALTH CARE IN BRAZIL

ABSTRACT Objective: To describe a case of congenital syphilis with a late diagnosis and identify missed opportunities at diverse phases/levels of healthcare, which led to late diagnosis. Case description: Boy, 34 days of life, referred from a basic healthcare unit to a tertiary hospital due to enlarged abdominal volume and progressive jaundice for 2 weeks, fecal hypocholia, hepatosplenomegaly, anemia, low platelet count and elevated liver enzymes. At physical examination, the infant presented with erythematous-exfoliative lesions on the palms and soles, macular rash in the inguinal region, ascitis, palpable liver 5 cm below the right costal margin and a palpable spleen 3 cm from the left costal margin. Infant serology: reactive CMIA (chemiluminescent microparticle immunoassay), VDRL (Venereal Diseases Research Laboratory) 1:1024 and reactive TPHA (Treponema pallidum Hemagglutination). Maternal serology: reactive CMIA and TPHA, VDRL 1:256. Radiography of the long bones showed symmetric periostitis, periosteal thickening, and lucent bands in the femur, humerus, ulna and tibia. After treatment with crystalline penicillin, the infant showed clinical and laboratory improvement, receiving hospital discharge at the 18th hospitalization day. Comments: This case shows that congenital syphilis is occasionally diagnosed late as a result of failed strategies to prevent this disease, both in the basic and secondary/tertiary levels of care. The application of interventions recommended by the Ministry of Health and identification of the situation in which there is ineffective implementation of these measures are important to assess routine care in all levels of healthcare and diverse units responsible for newborn and infant health care.摘要 研究目的：描述1例延迟诊断的先天性梅毒（congenital syphilis）病例，梳理导致该病例延迟诊断的医疗照护不同阶段与层级中存在的错失防控时机情况。 病例详情：患儿为34日龄男婴，因2周来腹部膨隆、进行性黄疸、粪便胆汁减少、肝脾大、贫血、血小板减少及肝酶升高，由基层医疗单位转诊至三级医院。体格检查可见：患儿掌跖部位存在红斑脱屑性皮损，腹股沟区有斑疹，伴腹水；肝脏于右肋缘下5cm可触及，脾脏于左肋缘下3cm可触及。 婴儿血清学检测结果：化学发光微粒子免疫试验（CMIA）反应性，性病研究实验室试验（VDRL）效价1:1024且反应性，梅毒螺旋体血凝试验（TPHA）反应性。母亲血清学检测结果：CMIA及TPHA反应性，VDRL效价1:256。 长骨X线影像学检查显示，股骨、肱骨、尺骨及胫骨可见对称性骨膜炎、骨膜增厚及透亮带。予结晶青霉素治疗后，患儿临床症状及实验室指标均得到改善，于住院第18日出院。 讨论：本病例表明，由于基层与二级/三级医疗照护层级中先天性梅毒的防控策略均存在疏漏，先天性梅毒偶可被延迟诊断。落实卫生部推荐的干预措施，并识别此类措施执行失效的场景，对于评估各级医疗照护机构及各类负责新生儿与婴幼儿医疗照护的单位的常规诊疗工作具有重要意义。