2024/11/27 by Mehmet Akyar, İpek Güney Varal, İpek Guney Varal +4
Biochemistry, Genetics and Molecular Biology · Medicine · #Blood disorders and treatments #Genetic Syndromes and Imprinting #Syphilis Diagnosis and Treatment
paper · doi:10.1515/jpem-2024-0365
openalex publication_date 2024/11/27 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22
OBJECTIVES: Congenital syphilis can cause severe morbidities such as hydrops fetalis, preterm birth, low birth weight, hepatosplenomegaly, pneumonia, hypoglycemia, etc., and mortality. Despite hypoglycemia being reported in congenital syphilis and hyperinsulinism, only one case was described. In this article, we aimed to present a newborn with congenital syphilis born to a syphilitic mother who was diagnosed with persistent hyperinsulinemic hypoglycemia with a focal lesion during follow-up. CASE PRESENTATION: week of pregnancy from a 30-year-old syphilitic mother who had pleural effusion and ascites, cholestasis, thrombocytopenia, and anemia at birth. Hypoglycemia was detected on the 10th day of the patient's follow-up (47 mg/dL). The patient was unresponsive to diazoxide, and octreotide, nifedipine, and glucagon treatments were started gradually. No variants were detected in the HH gene panel, but a focal pancreatic head lesion was detected in the pancreatic head in fluorine-18 L-3,4 dihydroxyphenylalanine positron emission tomography-computed tomography. Focal lesionectomy was recommended for the patient. CONCLUSIONS: In this article, we present a neonate with severe early congenital syphilis and focal pancreatic lesions with persistent hyperinsulinemic hypoglycemia unresponsive to diazoxide. Although hypoglycemia can be seen in congenital syphilis and has been reported before, hypoglycemia associated with hyperinsulinism is very rare; only a few patients have been presented, and a focal pancreatic lesion has not been previously reported. The pathology is unknown, but pancreatitis may cause this entity.