Neonatal Parotitis: A Case Report and Review of the Literature.

BACKGROUND: Neonatal parotitis is a rare disease. Between 1970 and 2011 only 44 cases have been reported in the English literature. METHODS: In this case report, we describe a case of neonatal parotitis caused by Group B streptococcus (GBS). Additionally, we performed a review of the recent literature. We found 18 new cases published between 2011 and 2020. These cases were analyzed together with the 44 cases published before 2011. RESULTS: All patients presented with swelling over the parotid area, with varying degrees of local inflammation and general symptoms. Purulent discharge from the Stensen's duct was present in 85% of the patients. The swelling was usually unilateral (84%). In total 70% of the patients were male. Prematurity was reported in 29% of the cases. The most common isolated pathogen was Staphylococcus aureus (68%). Only 5 cases were found describing GBS as the causative pathogen in neonatal parotitis. In most of the cases treatment with intravenous antibiotics was successful, 27% of the patients needed surgical drainage. The reported outcomes were good. CONCLUSIONS: When comparing GBS cases and non-GBS cases there seems to be a difference in presenting symptoms and pathophysiology, with GBS patients presenting without purulent discharge form the Stensen's duct and with more severe generalized symptoms. Additionally, all GBS patients had a positive blood culture, compared to 27% of the non-GBS patients, which indicates that in GBS cases the major route of parotid infection is hematogenous, compared to a retrograde flow from the oral cavity to the parotid gland in non-GBS cases.

XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

X-linked agammaglobulinemia is caused by mutations in the BTK gene, which result in a precursor B-cell differentiation arrest in the bone marrow and the absence of or strongly reduced B lymphocytes in blood. We identified a patient with a mild clinical phenotype, low numbers of B lymphocytes, and a splice-site mutation in the BTK gene. The precursor B-cell compartment in the bone marrow of this patient was almost identical to that in healthy children. Using real-time quantitative polymerase chain reaction, we were able to detect low levels of wild-type BTK transcripts in his granulocytes. Therefore, we speculated that wild-type BTK transcripts might be responsible for a milder clinical and immunological phenotype, as has been shown in several other diseases. Consequently, we quantified the expression of wild-type BTK transcripts in granulocytes of eight additional patients with splice-site mutations and compared their phenotypes with 17 patients with other types of BTK mutations. In these eight patients, the presence of low levels of wild-type BTK transcripts did not show a clear correlation with the percentage, absolute number, or immunophenotype of B lymphocytes nor with age or serum immunoglobulin levels at diagnosis. Nevertheless, we postulate that the presence of wild-type BTK transcripts can be one of the many factors that influence the clinical and immunological phenotype in X-linked agammaglobulinemia.