RESUMO
Acute conjunctivitis is a common disease in the neonatal period. Although often underestimated, Neisseria meningitidis is an uncommon but potentially severe cause of acute neonatal conjunctivitis. We describe a case of a 14-day-old healthy female newborn who presented with fever, runny nose, cough, and bilateral purulent ocular discharge. A nasopharyngeal swab tested positive for SARS-CoV-2, and the infant was discharged after becoming afebrile 24 hours later. Four days later, ocular exudate culture revealed the presence of N. meningitidis and Staphylococcus aureus. Blood and cerebrospinal fluid tests were unremarkable. The infant was treated with intravenous cefotaxime and topical azithromycin, with no signs of invasive disease or reported complications. This case highlights noninvasive neonatal acute conjunctivitis caused by a coinfection of N. meningitidis and S. aureus, with a favorable outcome. The ocular exudate culture was crucial in identifying the causative bacteria, which might otherwise have gone undetected and improperly treated. Clinicians should consider N. meningitidis as a potential agent in neonatal acute conjunctivitis.
RESUMO
Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. Compound heterozygotes that include this variant may exhibit a more severe phenotype of the disease and homozygotes are rarely found in clinical practice probably they express a milder phenotype. HIDS is a chronic autoinflammatory disease characterised by recurrent febrile episodes, associated with lymphadenopathies, abdominal pain, rash and arthritis. These flares can be triggered by vaccination, minor trauma, surgery and stress.We report a case of a 2-year-old girl who had recurrent attacks of fever associated with cervical lymphadenopathy, macular erythematous skin rash, abdominal pain and aphthous ulcers in the mouth. The patient was found to excrete elevated amounts of urinary mevalonic acid and a homozygous V337I mutation in the MVK gene was identified.