Congenital neuroblastoma presenting as profound neonatal metabolic acidosis with systemic hypertension: Case report

Background: Clinical collapse in the newborn most often occurs secondary to sepsis, delivery complications, congenital cardiac defects, or inborn errors of metabolism. We report on a neonate with respiratory, cardiac, and hepatic failure, with disproportionate metabolic acidosis and systemic hypertension, found to be caused by a congenital neuroblastoma.

Case description: A term infant presented to our Level IV NICU via emergent transport at 12 hours of life with clinical and laboratory findings consistent with respiratory, cardiac, and hepatic failure. Typical workup for sepsis and cardiac etiology was unrevealing. The infant was noted to have systemic hypertension despite prolonged capillary refill. A profound metabolic acidosis led the primary team to pursue a genetics consult. In the course of the workup for disorders of metabolism, a urine organic acids panel revealed an elevated HVA (homovanillic acid) and VMA (vanillylmandelic acid), the metabolites of the neurotransmitters epinephrine, norepinephrine and dopamine. Subsequent abdominal ultrasound and chest/abdomen CT revealed a large heterogeneous mass with internal vascular flow and scattered calcifications arising from the medial limb of the left adrenal gland, consistent with neuroblastoma.

Conclusion: Although rare, neuroblastomas can present clinically in the perinatal period in a manner requiring immediate life-saving intervention. Providers should consider the diagnosis in the setting of a newborn with a sepsis-like syndrome or profound metabolic acidosis presenting along with systemic hypertension without clear underlying etiology.