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  • Presentation

Newborns - Infection/Cancer

Description

In a presentation by Dr. Maria McNaby, a pediatric dermatologist at Cincinnati Children's Hospital, three cases of newborns with infections and malignancies were discussed. The first case involved a four-week-old male presenting with congenital infection signs like hypotonia and distended abdomen, ultimately diagnosed with congenital Cytomegalovirus (CMV) infection. The second case presented a two-week-old female with deep red plaques and abnormal blood work, leading to the diagnosis of diffuse large B-cell lymphoma and initiation of chemotherapy. The third case concerned a two-week-old male with significant skin eruptions linked to a rare genetic condition known as neonatal inflammatory skin and bowel disease due to a homozygous Adam 17 mutation. The presentation emphasized the importance of a multidisciplinary approach and high clinical suspicion in diagnosing and managing these complex cases, advocating for biopsies when needed. Dr. McNaby highlighted the evolving landscape of pediatric dermatology, particularly the increasing array of congenital infections to consider, including new and emerging pathogens, and the need for rapid response and innovative treatment strategies.

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Conclusions

  • Congenital infections in newborns require thorough and systematic investigation, including TORCH and emerging infections.
  • A multidisciplinary approach is essential in managing neonatal infections and malignancies.
  • Early recognition and biopsy in suspected cases enhances diagnostic accuracy and patient outcomes.
  • Congenital Cytomegalovirus (CMV) is a prevalent cause of congenital infection in the U.S., and treatment varies based on symptoms.
  • Neonatal Diffuse Large B Cell Lymphoma (DLBCL) can present with dermatological signs, necessitating rapid diagnosis and treatment to improve survival rates.
  • Unrecognized genetic conditions in infants can lead to severe skin and bowel disease, emphasizing the importance of genetic testing.
  • Management of complex neonatal conditions often requires supportive care due to the lack of definitive cures for rare genetic disorders.
  • Advancements in diagnostics and therapies, such as targeted biologics and gene therapy, may provide future treatment options for rare neonatal disorders.
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