Medical School, University of Cyprus, Palaios Dromos Lefkosias- Lemesou, 5 Agiou Symeon Street, Strovolos, Nicosia, 2037, Cyprus.
Department of Paediatrics, Archbishop Makarios III Hospital, 6 Korytsas Str, 2012, Nicosia, Cyprus.
BMC Pediatr. 2022 Dec 21;22(1):728. doi: 10.1186/s12887-022-03789-y.
The differential diagnosis of multiple unexplained bone fractures in a young infant usually includes child abuse or bone disease such as osteogenesis imperfecta. Bone abnormalities can occur in 60-80% of cases with congenital syphilis and may be the sole manifestation. However, this frequent manifestation of this rare disease such as congenital syphilis is frequently disregarded. We describe a case of a young infant with multiple long bone fractures diagnosed with congenital syphilis.
This 2-month-old male patient was referred to our hospital because of fractures of the ulna and distal radius bilaterally and noisy breathing with the suspicion of osteogenesis imperfecta. After thorough examination, the infant had anemia and a palpable spleen. We performed a screen for congenital infections among other investigations, which revealed positive non-treponemal and treponemal antibodies for syphilis. Hence the diagnosis for Congenital Syphilis was made. We performed a lumbar puncture (LP) which showed mild pleocytosis. The patient was treated with intravenous aqueous penicillin G 200 000 UI/KG per day for 10 days. In addition, a single dose of intramuscular penicillin G benzathine 50 000 UI/KG was given due to the abnormal result of CSF. On follow up admission 6 months later, the new syphilis serology had much improved and the new LP revealed no abnormal findings.
We present this case report in order to remind of a common manifestation of congenital syphilis, a rare disease which needs to be included in the differential diagnosis of multiple unexplained fractures in early infancy. In our case the fractures were symmetric and bilateral and they were accompanied by anemia and mild hepatosplenomegaly which led to the investigation of congenital syphilis as a possible cause. However, two thirds of infants with congenital syphilis are asymptomatic at birth. All women should have a proper syphilis screening during pregnancy.
在一个年轻婴儿中，多处不明原因的骨折的鉴别诊断通常包括虐待儿童或骨病，如成骨不全症。先天性梅毒可导致 60-80%的病例出现骨骼异常，且可能是唯一的表现。然而，这种罕见疾病（如先天性梅毒）的这种常见表现经常被忽视。我们描述了一例因双侧尺桡骨骨折且伴有呼吸杂音而被怀疑为成骨不全症的年轻婴儿，该婴儿被诊断为先天性梅毒。
这名 2 个月大的男性患者因双侧尺桡骨骨折和呼吸杂音被转诊至我院，我们怀疑其患有成骨不全症。经过全面检查，该婴儿患有贫血和可触及的脾脏。我们进行了先天性感染筛查等其他检查，结果显示梅毒非梅毒螺旋体和梅毒螺旋体抗体均为阳性。因此，我们诊断为先天性梅毒。我们进行了腰椎穿刺（LP），结果显示轻度细胞增多症。患者接受了每天 200 万 UI/kg 的静脉注射水剂青霉素 G 治疗 10 天。此外，由于 CSF 结果异常，还给予了单次肌肉注射苄星青霉素 G 5 万 UI/kg。6 个月后随访时，新的梅毒血清学有了很大改善，新的 LP 未发现异常。
我们报告此病例以提醒人们注意先天性梅毒的一种常见表现，这种罕见疾病需要纳入早期婴儿多处不明原因骨折的鉴别诊断。在我们的病例中，骨折是对称的和双侧的，伴有贫血和轻度肝脾肿大，这导致我们调查先天性梅毒是否为可能的病因。然而，三分之二的先天性梅毒婴儿在出生时无症状。所有女性在怀孕期间都应进行适当的梅毒筛查。
