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We have 3-yr old girl whose symptom seems to be diffcultlly diagnosed,we are sending
the belowed description for your consideration,if you have any suggestions or better
diagnosis on her illness,pls reply by e-mail:[log in to unmask]
Thank you for your kind help.
Case Introduction
It is a three-year-old female who has suffered general cyanosis
for half a year.Six months ago,the sympton was peripheral cyanosis
after cry,and became worse gradually.Now even at rest,cyanosis
is obvious.From on-set,there is no history of squatting position,
syncope,convulsion,dyspnea.pink frothy sputum,nosebleed and purpura.
There is no disorder of mental and physical action.Urine and stool
are normal.
Past history:11 months ago,it was operated on because of intracranial
hemorrhage caused by injury.
Family history:no such diseases.
She is Chinese.
Physical examination:
Normal T,P,R,Bp 85/45mmHg,clear mind,cyanotic face.There are
some places of dilated capilaries on her face.Skull defect about
2 x 4 cm.whole body skin and mucous membrane is cyanotic.Slight
mallet toes and fingers.No other positive findings.
Laboratory test:
1)WBC 4.25 x 10 9/L
RBC 3.8 X 10 12/L,Hb 128 g/L,PLATELET 40 X 10 9/L
RETICULOCYTE 4.6%
Some RBC showed bigger or smaller
2)Heinz bodies;negative
3)isopropanol test:weak positive
4)Heat denaturation test:unstable Hb 6.5%(normal<5%)
5)methemoglobin:0.5%(venous blood sample was dark red and became bright
red after fully exposed to air)
6)Free plasma hemoglobin:32 mg/L(normal<50mg/L)
7)Hemoglobin F:3.75%
8)Hemoglobin electrophoresis:HbA1 97.8%,HbA2 2.2%
2.Type B ultrasonic exam:Liver normal size,two low-echo area on
left lobe(1.1 x 0.7 cm;1.3 x 1.0cm)other parts has coarse and
uneven echo.Spleen is enlarged with even echo(33.7 x 92mm)
3.Catheterization and cardiopulmonary D.S.A.
No abnormal findings.
**Blood gas analysis
PH 7.348
PCO2 4.8KPA
BEB -4
BB 43.7
PO2 4.55KPA
SPO2 61%
TCO2 20.6
HCO3- 19.5
*If you know how to diagnose the disease,please send E-mail
to the following address:[log in to unmask]
Thank you!
Wang Xin MD
Fuzhou Union Hospital
Fuzhou Fujian China
Date:July 10,1996
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