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A 3-Day-Old Girl Referred From Her Pediatrician for Oral Ulcerations

Mary Lauren Neel1, Jeremy Kern1, Tova Ronis2

  • 1Children's National Medical Center, Washington, District of Columbia mary.lauren.m.neel@vanderbilt.edu.

Pediatrics
|August 11, 2016
PubMed

Insights

A neonate presented with oral ulcers, a facial rash, and other anomalies. This case highlights two unexpected diagnoses in infant oral ulcerations and congenital conditions.

Area of Science:

  • Pediatrics
  • Neonatology
  • Ophthalmology

Background:

  • A 3-day-old infant presented with oral ulcerations and a history of failed newborn hearing screening.
  • Prenatal and antenatal periods were unremarkable, with no significant medical history noted.
  • The infant was otherwise well-appearing and afebrile at presentation.

Observation:

  • Physical examination revealed yellowish ulcers on erythematous bases on the anterior tonsillar pillars.
  • Additional findings included a right coloboma and a II/VI systolic ejection murmur.
  • A new facial rash developed during hospitalization.

Findings:

  • Laboratory results indicated a traumatic lumbar puncture with elevated red and white blood cell counts.
  • Complete blood count revealed thrombocytopenia and leukocytosis.
  • The combination of clinical and diagnostic findings led to two surprising diagnoses.

Implications:

  • This case underscores the importance of a comprehensive evaluation for neonatal oral ulcerations.
  • It highlights the potential for co-occurrence of seemingly unrelated congenital anomalies and acquired conditions.
  • The discussion emphasizes the diagnostic challenges and unexpected etiologies in pediatric presentations.

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