a case presentation

1. 1

2. DR. MUHAMMAD ARSHAD
Resident Clinical Hematology
AFBMTC,Rawalpindi ,Pakistan
CASE PRESENTATION

3. PATIENT PROFILE
 Name : x y z
 Age : 08 1/2 Years
 Profession : Student
 Born to consanguineous parents
 Address : Rawalpindi

4. PRESENTING COMPLAINTS
 Fever
 Vomiting two weeks
 Head ach
 Septic shock
Shifa international Hosp.Islamabad(18th Nov,17)

5. HISTORY OF PRESENTING ILLNESS
 Fever
Sudden onset
Intermittent
High grade
Rigors &chills
Vomiting
Head ach

6. PAST HSTORY
 Diagnosed as Congenital adrenal hyperplasia(CAH) at
3 months of age.
 Took low dose steroids for 6 years.
 Stopped by Pediatrician in 2015.
 Repeat testing from AFIP was Negative.

8. Family history

9. INVESTIGATIONS
 Blood CP
 WBC : 41 x 109/L
 Hb : 10.6 g/dL
 PLT : 288 x 109/ L
 Peripheral smear:
 few myeloid precursors with neutrophila &
few reactive lymphocytes.
 PCR for bcr-abl mutation: Negative
 CRP: 140UNIT
 SERUM CORTISOL:59UNIT

10. MANAGEMENT:
 Septic shock
 IV antibiotics
 IV steroids
 Discharged

11.  Fever
 Vomiting
 Diarrhea
 Head ach
 Blood CP
WBC : 52 x 109/L
Hb : 11.2 g/dL
PLT : 358 x 109/ L
Medicare hospital,Islamabad(Feb 2018)

12. MANAGEMENT:
 IV antibiotics
 IV fluids
 discharged

13.  Fever
 Vomiting
 Diarrhea
 Blood CP
 WBC : 29 x 109/L
 Hb : 11.6 g/dL
 PLT : 285 x 109/ L
Medicare hospital,Islamabad(June,2018)

14. MANAGEMENT:
 IV antibiotics
 IV fluids
 Referred to AFBMTC

15. AFMBTC (19/06/2018)
•
 Afebrile & active
 Vitally stable
 Blood CP
 WBC : 24 x 109/L
 ANC : 18.3x 109/L
 Hb : 11.6g/dL
 PLT : 601 x 109/ L
 Systemic examination: Unremarkable
•

16.  Advised:
 Neutrophil function studies
 Serum immunoglobulin levels

18. LEUKOCYTE-ADHESION DEFICIENCY
 Leukocyte trafficking from the bloodstream to tissue is
important for the continuous surveillance of foreign
antigens, as well as for rapid leukocyte accumulation at
sites of inflammatory response or tissue injury.
 Leukocyte emigration to sites of inflammation is a
dynamic process involving multiple steps in an
adhesion cascade.
 Various adhesion molecules are expressed on both
resting and stimulated endothelial cells and
leukocytes.

20.  Defects in a number of these adhesion molecules
result in recognized clinical syndromes.
 Three leukocyte-adhesion deficiency (LAD)
syndromes have been delineated.
 LAD I, in which the beta-2 integrin family is deficient or
defective.
 LAD II, in which the fucosylated carbohydrate ligands for
selectins are absent.
 LAD III, in which activation of all beta integrins (1, 2, and 3) is
defective

25. •Plan : Allogeneic HSCT??