[CIS PIDD] Peruvian 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies

[Juan Carlos Aldave Becerra]

Dear professors,
I would appreciate your thoughtful insights regarding the case of a 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies. I describe below the case report and attach some photographs with the guardian's consent.
Sincerely,
Juan Carlos Aldave, MDAllergy and Clinical ImmunologyHospital Nacional Edgardo Rebagliati MartinsLima, Peru

CASE REPORT
Girl, 4.5 months of
age

Date of birth: October
28th 2013

 

FAMILY HISTORY:

-      
No family members with suspicion of PID.

-      
Healthy
mother; the father died in an accident.

-      
Healthy
7-yr-old half-sister (some mother).

-      
No
consanguinity.

 

PERSONAL HISTORY:

-      
Weight
at birth=2530 g; gestational age=40 weeks

-      
No
adverse reaction to BCG.

-      
Current
weight=2714 g (at 3 months old her weight was 3200 g)

 

CURRENT DISEASE:

- Peculiar
facies (please see the attached photographs).

- Since
15 days of life: recurrent diarrhea causing severe perianal erythema;
diarrhea has improved with broad-spectrum antibiotics, fluconazole and IVIG.

- 1 month old: admitted to the hospital due to cough, breathlessness and
cyanosis → diagnosis: bronchiolitis, congenital cardiac defects (interauricular
communication, persistent ductus arteriosus); required 2 days of intensive unit
care; digoxin and captopril were initiated.

- 3.5
months old: admitted to the hospital due to pneumonia, improved with
broad-spectrum antibiotics.

- 4.5
months old: diagnosis of agammaglobulinemia (IgG=0, IgA=0, IgM=4 mg/dL, nearly
absent B lymphocytes) → initiation of IVIG (March 7th 2013).- No thrush.

 

WORK UP:

March 6th, 2014:

-       IgG=0,
IgA=0, IgM=4 mg/dL, IgE<1 IU/mL

-      
Hb=13.2 g/dL; platelets=75,000; WBC=6,650; neutrophils=3,990;
lymphocytes=1,663; monocytes=200; eosinophils=400, basophils=0/mm3

-      
Serum glucose, urea and creatinine: within
normal limits.

-      
C-reactive protein: 0.70 mg/dL

-      
Urinalysis: proteinuria 2+, leukocytes
5-8/field, red blood cells 2-4/field

-      
Stool analysis: presence of fat, no parasites

-      
Thyroid tests: free T3=3.53 pg/mL; free
T4=2.040 ng/dL; TSH=0.012 uUI/mL

-      
HIV: negative

-      
VDRL: negative

-      
Blood cultures: negative

-      
Karyotype: 46 XX

March 12th, 2014 (after
receiving IVIG 0.8 g/kg):

-      
Total
lymphocytes=2010; CD3+ cells=1518 (75.5%); CD4+ cells=1079 (53.7%); CD8+ cells=425
(21.2%); CD19+ cells: 4 (0.18%); CD56+ cells: 474/mm3 (23.6%).

-       IgG=560,
IgA=0, IgM=11 mg/dL

-      
Complement
C3=66; C4=14.

 

DIAGNOSIS:

-      
Primary
immunodeficiency:

·       Predominantly antibody PI?

·       Combined PI?


 		 	   		   		 	   		   		 	   		  
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