[CIS PIDD] [cis-pidd] 22q11.2 del Syndrome from Mexico

Mon Nov 7 15:12:58 EST 2016

1) Could it be asymmetric crying faces and not facial paralysis?
2) Those T cells are quite low.  Do you think this could be atypical complete DiGeorge?  Might explain the adenopathy.  Could get RA/RO to see.
3) Pneumococcal responses seem OK to me.
4) 22q11.2 deletion is 1:3000 live births in the USA.  Very easy for there to be a second defect in association.

Kate Sullivan, MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363

On Nov 7, 2016, at 2:25 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Good afternoon - I am looking for any thoughts regarding a a 10mo old female that has a new diagnosis of 22q11.2 del syndrome and has been hospitalized for 2 months with continued respiratory issues, lymphadenopathy, and is now back in the ICU due to respiratory failure.

She was born and lived in Mexico until just prior to presentation at 8mo of age with respiratory distress in the first weeks of life, diagnosed with milk allergy due to difficulty feeding and recurrent emesis and cough, improved somewhat after switching to soy formula -  2 respiratory infections treated with antibiotics in first 8mo of life.  No contributory family history.

Initially admitted at 8mo of age with pneumonia and lymphopenia from an outside hospital.  Shortly after admission she was diagnosed with 22q11.2 del on FISH.  She had hypocalcemia, abnormal swallow study, facial nerve palsy, a small PFO on cardiac echo, and vertebral compression fractures .   After treatment for pneumonia, calcium stabilization, and G-button placement due to aspiration risk, she had acute worsening of respiratory status 3 weeks ago and was rhinovirus positive (continues with a positive PCR). She has been in and out of the ICU for respiratory decompensation, ongoing extensive lymphadenopathy (paratracheal, axillary, mediastinal), atalectasis and intermittent pleural effusion on CT with vacillating respiratory issues and persistent oxygen requirement over the last month.

All TB studies have been negative.  She is on TB treatment as well as bactrim and fluconazole prophylaxis.  Multiple investigations for infection - including TB (a positive PPD, but received BCG in MX), histo, coccidio, crypto, galactomannin, HIV, EBV, hemobartonella, blood cultures, urine cultures,  MRSA surveillance cultures .  Rhinovirus is only positive infectious marker - fevers off and on through hospitalization and empiric antibiotics.  Axillary lymphnode biopsy and FNA of mediatinal mass are "reactive lymph tissue" - polymorphous lymphoid tissue with scattered neutrophils.  Reviewed and evaluated by oncology with no concern for malignancy.

Labs at 10mo:
CD3+ - 465
CD4+ -425
CD8+ -30
CD19+ - 1030
CD16/56+ - 945
IgG - 892, M of 126, A <10
Dip 0.6 and Tet 7.4
Pneumococcal titers - all but 2 are greater than UPPER limit of detection (9V and 23F are 13.32 and 9.47 respectively)

Any suggestions regarding this case - other infections we should be looking for or thoughts of why she continues to decompensate?
Comments on the degree of lymphadenopathy (is this all rhinovirus or secondary to chronic aspiration syndrome?)
The compression fractures in this age group being attributed to hypocalcemia? - a case report of DiGeorge and vertebral compression fractures in literature
Facial paresis (normal MRI's)? - is this a different syndrome?
Why the seemingly hyper- response to pneumococcal vaccine?
Is 22q11.2 del syndrome the right diagnosis  (hypocalcemia, quantitative T-cell deficiency, dysmorphic ears (cupped appearance and posterior rotation), and feeding issues - chronic aspiration...) ... or should we look for other etiology of T-cell deficiency?

Thank you very much for any insight!

Millard L. Tierce IV, DO, MBA, MS, FACAAI, FAAP
6310 Southwest Boulevard Suite 200
Benbrook, Texas 76109
817-731-9198
Fax 817-731-9199

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