International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access
Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc
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Case Report

Volume 9, Number 1, March 2020, pages 16-19

Asymptomatic Bernard-Soulier Syndrome With a Novel Mutation


Table 1. Laboratory Data on Admission and on Follow-Up
FBCBlood filmCRPBld CulNa (mmol/L)K (mmol/L)U (mg/dL)CrToRuCMVHS1HS2
WBC (/µL)Hb (g/dL)Plt (/µL)MPV (7.4 - 10.4 fL)
FBC: full blood count; WBC: white blood cells; Hb: hemoglobin; Plt: platelets; MPV: mean platelet volume; CRP: C-reactive protein; Bld Cul: blood culture; U: urea; Cr: creatinine; To: Toxoplasma; Ru: rubella; CMV: cytomegalovirus; HS1: herpes simplex 1; HS2: herpes simplex 2.
Day 112,9002038,00011.8Large giant plateletsNNG1413.6180.3NNNNN
Day 214,00019.241,00015.9Large giant platelets-
Day 311,20017.951,00015.7--
Day 415,3001715,00016--
Day 511,20017.845,00016.4--
Day 711,00015.856,00016.6--
6 months10,00011.261,00018.9Large giant platelets-


Table 2. Result of Whole Exome Sequence
GeneTranscriptVariantZygosityACMG class
GP1BBNM_00407.4c.511_516dup p.(Leu171_Leu172dup)HomozygousHomozygousHeterozygousHomozygousLikely pathogenic