ABSTRACT
Congenital syphilis (CS) is a preventable infection, yet the incidence has surged to the highest rates in 20 years. Because 50% of live-born infants with CS are asymptomatic at birth, there is an increasing likelihood that pediatric providers will encounter older infants whose diagnoses were missed at birth, emphasizing the importance of timely prenatal screening and treatment. We present one such case of an infant admitted twice at 3 and 4 months of age with long bone fractures and suspected nonaccidental trauma. On her second presentation, several additional symptoms prompted evaluation for and eventual diagnosis of CS. In this case, it is demonstrated that an isolated long bone fracture can be a first presentation of CS, with other classic findings possibly appearing later. Pediatric providers should be familiar with the varied presentations of CS in older children, including the radiographic findings that we describe. The rising rates of CS reveal deficiencies in our current strategy to prevent CS and, thus, we recommend reconsideration of universal syphilis screening in the third trimester and at delivery, with timely treatment to prevent CS during pregnancy.
Subject(s)
Syphilis, Congenital/diagnosis , Anti-Bacterial Agents/therapeutic use , Child Abuse/diagnosis , Diagnosis, Differential , Diagnostic Errors , Female , Fractures, Spontaneous/etiology , Humans , Humeral Fractures/etiology , Infant , Penicillin G/therapeutic use , Periostitis/microbiology , Skin Ulcer/microbiology , Syphilis, Congenital/drug therapy , Transaminases/bloodABSTRACT
We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29 megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067-9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith-Wiedemann syndrome [Alders et al., 2000]. This three-generation pedigree outlines features of a novel microduplication syndrome.
