Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

• DOI: 10.1101/mcs.a002147
• Publication Date: 2017-08-12T01:00:34Z
• Authors: Mersedeh Rohaniza...; Sara M. Abdo; Anne O'Donnell-Luria; Ivana Mihalek; Peggy Chen; Marilyn Sanders; Kristen Leeman; Megan Cho; Christina Hung; Olaf Bodamer
• Keywords: Proband; Liver disease

Rapid whole-exome sequencing (rWES) is used in critically ill newborn infants to inform about diagnosis, clinical management, and prognosis. Here we report a male infant with hydrops, pancytopenia, acute liver failure who was listed for transplantation. Given the acuity of presentation, procedure-related morbidity mortality, lack rWES proband both parents turnaround time 10 business days. returned one maternally inherited, likely pathogenic paternally variant NPC1 , suggestive diagnosis Niemann–Pick disease type C (NPC). Interestingly, NPC entertained prior rWES, but deemed unlikely light absent cholesterol storage on biopsy near-normal oxysterol levels dried blood. The confirmed filipin stain fibroblasts demonstrating defective trafficking. slowly progressive neurodegenerative disorder that may also affect overall poor It decided take off transplant list transfer palliative care, where he died after 4 wk. This case highlights utility an setting several domains precision medicine including (1) (2) prognosis outcome, (3) management therapy, (4) utilization resources.