Respiratory failure in a 10monthold: Pursuing a diagnosis - PowerPoint PPT Presentation
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Respiratory failure in a 10monthold: Pursuing a diagnosis
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Macular rash with eosinophilia (2500/mm3) ... Nodes: 2 mm node rt axilla, 3 mm node lt groin. Liver 4-5 cm below rcm. No murmur, rash ... – PowerPoint PPT presentation
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Title: Respiratory failure in a 10monthold: Pursuing a diagnosis
1
Respiratory failure in a 10-month-old Pursuing
a diagnosis
- Todd D Green
- Childrens Hospital of Pittsburgh
- November 4, 2007
2
Case Presentation
- 10 mo male transferred from outside hospital
- Admission 8 months for bilat pneumonia,
pneumothorax - WBC 4.4 k/ul, ALC 1628/mm3, ANC 2288/mm3, AEC
308/mm3 - Resp failure, intubation, ECMO
- BAL unremarkable (including Pneumocystis, fungal)
- ET sputum Klebsiella, Stenotrophomonas, Serratia
- Urine negative for CMV, adenovirus
- EBV PCR negative
- Negative molecular testing for CF
- Macular rash with eosinophilia (2500/mm3)
- Skin biopsy contact dermatitis, resolved with
steroids
3
Case Presentation
- PMH
- Chronic clear rhinorrhea since 1-2 months
- Recurrent otitis media beginning 4 months
- PE tubes placed 7 months, continued infections
- Rashes with azithromycin and amoxicillin
- No chronic thrush, diarrhea, failure to thrive
- FH
- 4 yo brother with JRA, mat first cousin with CF
- No consanguinity, PID, early childhood deaths
4
Case Presentation
- Medications on admission
- Bactrim, Zosyn, Vancomycin
- Prednisolone
- Methadone, diuretics, sedatives
- Exam Ht 5th ile, Wt 5th ile, HC 25th ile
- HEENT intubated (tonsils later visualized)
- Nodes 2 mm node rt axilla, 3 mm node lt groin
- Liver 4-5 cm below rcm
- No murmur, rash
5
- Differential?
- Combined immunodeficiency
- SCID
- Omenns Syndrome
- MHC I or II Antigen Deficiency
- p56 Lck deficiency
- DiGeorge Syndrome
- Hyper-IgM Syndrome
- CGD
- CVID
- XLP
- XLA
- Others
10 month old male with respiratory
failure History chronic rhinorrhea, OM History
eosinophilia and rash Tonsils and lymph nodes
present Lymphopenic
6
- Further assessment
- IgG 38 mg/dL, IgA 9 mg/dL, IgM 9 mg/dL, IgE 2
U/mL - Abs lymph count 2046/mm3 (3400-9000)
- CD3 1550/mm3 (1900-5900)
- CD4 500/mm3 (1400-4300)
- 33 4/45RA/62L (58-91)
- CD8 1053/mm3 (500-1700)
- 69 8/45RA/62L (47-87)
- CD19 308/mm3 (610-2600)
- Lymphocyte prolif normal to mitogens, absent
antigens
- Clinical course
- Gradual recovery
- No rash
- 300-2700/mm3 eosinophils during 4 wk admission
- Bone marrow biopsy nl trilineage hematopoesis, no
malignancy - Home on IVIG, presumptive CVID
Normals from Shearer et al., J Allergy Clin
Immunol 2003
7
Follow-Up
- Continued recurrent OM, mult sets PE tubes
- Recurrent rhinorrhea, diarrhea, slow wt gain
- Resolution eosinophilia, no further rash
- Developed PCP at 15 months
- LE thromboses during hospitalization, diagnosed
with MTHFR gene mutation (1p36.3) - Generally well since
- Recurrent nephrolithiasis with ammonium urate
stones (unusual in US) at 31 months
8
Follow-up Immunologic Parameters
- 19 months 31 months
- ALC 4320 (3600-8900) 2695 (2300-5400)
- CD3 2458 (2100-6200) 1730 (1400-3700
- CD4 760 (1300-3400) 507 (700-2200)
- CD8 1659 (620-2000) 1145 (490-1300)
- CD48 0.46 0.44
- CD16/56 151 (180-920) 137 (130-720)
- CD19 1581 (720-2600) 776 (390-1400)
- CD45RA/62L 53 of T-cells 70 of T-cells
- Normals from Shearer et al., J Allergy Clin
Immunol 2003
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Follow-up Immunologic Studies
- 19 months 31 months
- Mitogen Prolif Normal Normal
- Antigen Prolif Absent Absent
- IgA 0 mg/dL 0 mg/dL
- IgM 0 mg/dL 0 mg/dL
- IgE 4 IU/mL 5 IU/mL
- Bacteriophage Fx-174 immunization response
abnormal - No detectable antibody after primary
immunization, but with phage clearance,
suggesting presence of neutralizing antibody - Very low antibody titer after second (no IgG
isotype)
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Further Immunologic Workup
- ADA, PNP activity
- Common gamma chain sequencing (pt, mom)
- SH2D1A sequencing
- BTK sequencing
- CD40Ligand sequencing
- CH50
- Platelet size, number
- All normal
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Summary
- Now 3 3/12 yo, h/o PCP
- Agammaglobulinemia with normal B-cells
- Abnormal response to bacteriophage immunization
- Low CD4 , o/w normal lymphocyte populations,
including CD45RA/62L - T-cell fxn with nl mitogen prolif, absent antigen
- Where to next?
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