| 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 |
| Journal website http://www.theijcp.org |
Case Report
Volume 9, Number 1, March 2020, pages 16-19
Asymptomatic Bernard-Soulier Syndrome With a Novel Mutation
Tables
| FBC | Blood film | CRP | Bld Cul | Na (mmol/L) | K (mmol/L) | U (mg/dL) | Cr | To | Ru | CMV | HS1 | HS2 | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 1 | 12,900 | 20 | 38,000 | 11.8 | Large giant platelets | N | NG | 141 | 3.6 | 18 | 0.3 | N | N | N | N | N |
| Day 2 | 14,000 | 19.2 | 41,000 | 15.9 | Large giant platelets | - | ||||||||||
| Day 3 | 11,200 | 17.9 | 51,000 | 15.7 | - | - | ||||||||||
| Day 4 | 15,300 | 17 | 15,000 | 16 | - | - | ||||||||||
| Day 5 | 11,200 | 17.8 | 45,000 | 16.4 | - | - | ||||||||||
| Day 7 | 11,000 | 15.8 | 56,000 | 16.6 | - | - | ||||||||||
| 6 months | 10,000 | 11.2 | 61,000 | 18.9 | Large giant platelets | - | ||||||||||
| Gene | Transcript | Variant | Zygosity | ACMG class | |||
|---|---|---|---|---|---|---|---|
| Index | Brother | Mother | Father | ||||
| GP1BB | NM_00407.4 | c.511_516dup p.(Leu171_Leu172dup) | Homozygous | Homozygous | Heterozygous | Homozygous | Likely pathogenic |