PM2028: “I Don’t Think Your Baby Will Be Able to Live but I Don’t Know Why”: Confronting Diagnostic Uncertainty

Introduction: Congenital rhabdoid tumors are rare and nearly uniformly lethal. Their most common location is within the central nervous system (CNS, or atypical teratoid/rhabdoid tumor (AT/RT)), however they can also occur within the kidneys or soft tissues. Those that are most commonly metastatic at presentation are non-CNS, non-renal. Due to their low incidence and high mortality, these cancers can easily be misdiagnosed. This case highlights the importance of communication amidst medical uncertainty, with reliance on prognosis rather than diagnosis as a means of informing shared decision-making. This allows for clinical care to most closely align with parental goals, allowing parents to ascribe meaning to the event despite uncertainty and thus allowing increasing resilience in the parent-physician relationship.

Case Description: This is the case of a 35w4d old baby girl who was born to a mother with no significant medical or prenatal history via crash Cesarean section secondary to repeated late decelerations. Ultrasound the week prior to admission was normal except for report for possible bilateral hydronephrosis. At birth, the infant was found to have multiple large, dark red-purple hemorrhagic masses on the head, in the mouth, right axilla, and numerous other sites. The cranial mass was suspected to be cut during delivery, and despite suturing, continued to bleed, ultimately resulting in profound hypovolemic shock, disseminated intravascular coagulation (DIC), severe persistent pulmonary hypertension of the newborn (PPHN), acute kidney injury (AKI), and multisystem organ failure. She underwent several code events and necessitated continuous volume resuscitation and pressor support. Due to the presence of DIC and diagnostic uncertainty, the infant was ineligible for hemodialysis or extracorporeal life support. The infant died shortly after being transitioned to comfort care on day of life 5.

Discussion: Despite consultation with numerous subspecialty services, the diagnosis remained unknown and the theorized diagnosis (multifocal lymphangioendotheliomatosis) found to be incorrect upon autopsy results. Parental anxiety and physician discomfort increased in the face of uncertainty of diagnosis.

Conclusion: The rare presentation and high mortality of this malignant congenital neoplasm provides room for reflection. Although knowledge of the diagnosis may have altered the length of survival for this patient, ultimately the clinical outcome would not have changed. Seeking clear diagnoses should not be of primal importance in cases that are undergoing rapid deterioration. In such cases and when all medical treatment is clearly nonbeneficial, emphasis should be focused on prognosis based on current symptoms to improve support for the family.