[CIS PIDD] [cis-pidd] Question from Juan Carlos Aldave

[Sullivan, Kathleen]

Dear professors,

I evaluated this week a 16 yr-old boy with a very puzzling clinical picture. I describe below the clinical history.

The main features are:
- HTLV-1–induced infective dermatitis
- Deep skin ulcer infected by Pseudomona aeruginosa and Stenotrophomonas maltophilia
- Immune abnormalities: low naive CD4+ T cells, marked T-cell activation, low B-cell counts, marked eosinophilia
- Arrest of body growth and sexual development: insensitivity to growth hormone? (low GH, high IGF-1)
- Anemia, hepatosplenomegaly
- Marked hypoalbuminemia

I would appreciate your expert insights and suggestions.
Thank you very much.


Lima, Peru

-----------------------------
May 3rd 2014
Boy, 16 years of age
Date of birth: August 23rd 1997
Blood group: A Rh(+)
 
FAMILY HISTORY:
-       No family members with suspicion of PID.
-       2 half-brothers and 4 half-sisters (some mother), all healthy.
-       No consanguinity.
 
PERSONAL HISTORY:
-       Weight at birth=2500 g
-       No adverse reaction to BCG.
-       Current weight=24 kg (very low for age)
-       Current height=126 cm (very low for age)
 
CURRENT DISEASE:
-       Completely healthy up to 9 years of age (weight at that time=36 kg).
-       From 9 years of age: abdominal erythema with blisters, desquamation and scaling; relapsing course with progressive expansion to all the body; partial response to high-dose systemic corticosteroids. Recurrent fever, general malaise.
-       From 9 years of age: arrest of body growth and sexual development.
-       One episode of thrush at 10 years of age while taking systemic corticosteroids.
-       “Pneumonia” one year ago, required intravenous antibiotics, no microorganisms were isolated.
-       One month ago, an ulcer appeared on the right buttock. The ulcer has expanded progressively. Culture of the secretion: Pseudomona aeruginosa. Blood culture: Stenotrophomonas maltophilia.
-       No chronic or recurrent diarrhea.
 
PHYSICAL EXAM:
Growth delay (patient appears like a 9-year-old child).
No development of secondary sex characteristics.
Diffuse erythematous scaling all over the body (please see the attached photographs).
Deep ulcer of about 10 cm on the right buttock.
 
WORK UP:
April 10th, 2014:
-       Hb=7.8 g/dL; platelets=438,000; WBC=7,650; neutrophils=5,620; lymphocytes=1,550; monocytes=240; eosinophils=200, basophils=40/mm3
April 25th, 2014:
-       Hb=10.6 g/dL (after blood transfusion); platelets=645,000; WBC=16,470; neutrophils=3,730; lymphocytes=3,030; monocytes=570; eosinophils=8,490, basophils=200/mm3
-       Serum glucose, urea and creatinine: within normal limits
-       C-reactive protein=2.57 mg/dL
-       Albumin=1.63 g/dL; total bilirubin=0.39 mg/dl; lactate dehydrogenase=292 mg/dl; AST=30 U/L; ALT=31 U/L; β2 microglobulin=4.73 mg/L
-       IgG=2159, IgA=373, IgM=340 mg/dL, IgE≥2000/mL
-       IgG to CMV and toxoplasma: positive titers
-       IgM to EBV, CMV, toxoplasma and rubella: negative
-       Serology for HBV, HCV and HIV: negative
-       Antibodies to HTLV: reactive 118.87 (normal values <1)
-       Stool analysis for ova: negative.
-       CT: mild left pleural effusion with atelectasis; no mediastinal or axillary lymphadenopathies; homogeneous hepatosplenomegaly; retroperitoneal left para aortic lymphadenopathies.
-       Cardiac US: normal systolic function, mild diastolic dysfunction of the left ventricle.
-       Skin biopsy: hyperkeratosis with parakeratosis and microabscesses; psoriasiform acanthosis; edema in the papillary dermis; marked chronic perivascular inflammatory infiltrate with extension to the papillary dermis; abundant eosinophils; incontinentia pigmenti.
April 30th, 2014:
-       Hb=8.1 g/dL; platelets=585,000; WBC=15,780; neutrophils=5,210; lymphocytes=3,140; eosinophils=6,560/mm3
-       ESR=45 mm/h; C-reactive protein=3.04 mg/dL
-       Albumin=1.73 g/dL; bilirubin and liver enzymes within normal levels; 9 mg/dl; lactate dehydrogenase=292 mg/dl; β2 microglobulin=6.33 mg/L
-       Vit B12 >1000 pg/mL; folic acid within normal levels.
-       Free T3=1.64 pg/mL (normal values: 1.80-4.2)
-       Free T4, TSH, prolactin, ACTH (8 a.m.), LH, FSH: within normal levels
-       Growth hormone=11.1 ng/mL (normal levels <3)
-       IGF-1 (somatomedin C) <25 (normal levels: 193-731)
-       Total lymphocytes=3140
-       CD3+ cells=2587 (21% are DR+)
-       CD4+ cells=1878
-       CD4+CD45RA+ T cells=10%; CD4+CD45RO+ T cells=90%
-       CD8+ cells=647
-       CD8+CD45RA+ T cells=65%; CD8+CD45RO+ T cells=35%
-       TCRγδ CD3+ cells=1.3%
-       TCRαβ DN CD3+ cells=2%
-       CD19+ cells=104 (3.3%)
-       CD56+ cells= 371 (11.8%)
-       CD3+CD56+ cells= 47 (1.5%)
-       Proteinuria=758 mg/day (normal values <150 mg/day).
Kate Sullivan, MD PhD
Wallace Chair of Pediatrics
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363



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