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

[Fabian Hauck]

Dear Juan Carlos Aldave Becerra,
You could check for radiosensitivity, e.g. found in Ligase-4-deficiency, and analyse CD45RA/R0 in T cells.
Best regards,
Fabian Hauck
Hauner Children Hospital
Munich, GermanY

Von meinem iPhone gesendet


> Am 25.03.2014 um 02:33 schrieb Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com>:

> 

> 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, MD

> 

> Allergy and Clinical Immunology

> 

> Hospital Nacional Edgardo Rebagliati Martins

> 

> Lima, 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 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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> 

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> You are currently subscribed to cis-pidd as: fabian.hauck at med.uni-muenchen.de.

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> 

> <20140315 - photo I.jpg>

> <20140315 - photo II.jpg>


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