Journal of Pediatric Infectious Diseases 9 (2014) 101–107 101 DOI 10.3233/JPI-140416 IOS Press 1305-7707/14/$27.50 © 2014 – IOS Press and the authors. All rights reserved This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License. Case Report Fatal cryptococcosis presenting as hepatobiliary dysfunction in an ALL patient Brandon R. McNew a, *, Ayman El-Sheikh a , Patricia A. Kirby b , Warren P. Bishop c and Ghada A. Abusin a a Department of Pediatrics, Division of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, IA, USA b Department of Pathology, Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, IA, USA c Department of Pediatrics, Division of Pediatric Gastroenterology, Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, IA, USA Received 11 February 2014 Revised 11 April 2014 Accepted 11 April 2014 Abstract. Although current therapies for acute lymphoblastic leukemia (ALL) in children provide high cure rates, invasive fungal infections remain a significant source of mortality. We report a fatal case of cryptococcosis presenting as hepatic dys- function in a patient with ALL and Down syndrome. Autopsy results confirmed Cryptococcus septicemia with involvement of lungs, liver, and lymph nodes. The severity of the fungal sepsis and underlying immunosuppression probably contributed to the unusual presentation and fatal outcome. This report highlights the need to consider cryptococcal infection as a cause of sepsis syndrome in immunocompromised patients when bacterial cultures are negative. Keywords: Cryptococcus neoformans, pediatric, acute lymphoblastic leukemia, hepatobiliary dysfunction, Down syndrome 1. Introduction While current advances in pediatric acute lympho- blastic leukemia (ALL) therapies have enhanced the cure rate, significant morbidity and mortality still result from systemic infections. [1]. Chemotherapies that suppress T-cell immunity (e.g., intensive gluco- corticoid therapy), periods of prolonged neutropenia, severe oral and/or gastrointestinal mucosal injury, and the presence of central venous catheters are all risk factors for such infections. Early identification of invasive fungal infection (IFI) continues to be a major ___________________________________________ *Correspondence: Brandon McNew, MD, 200 Hawkins Drive- 2518 JCP, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA. Tel.: +1 319 353 7110; Fax: +1 319 356 7659; E-mail: brandon-mcnew@uiowa.edu. problem. The clinical presentation is often subtle, non-specific, and in the context of multiple complex confounding variables [2]. Confirmation of IFI is often a difficult task as histologic diagnosis typically requires invasive procedures, fungal cultures have low sensitivity, imaging studies are non-specific, and serum marker results (e.g., galactomannan and β-D- glucan) are difficult to interpret in a patient with a complex presentation [3]. Delay in treatment can be costly for the patient, as IFI may progress slowly or quite rapidly to dissemination and even death. We describe a challenging case of a pediatric pa- tient with Down syndrome and ALL in remission who presented septic with hepatobiliary dysfunction of unclear etiology, found to have disseminated Cryp- tococcus neoformans infection at autopsy.