[CIS PIDD] [cis-pidd] neurodegeneration in CHARGE+DiGeorge Patient

[CIS-PIDD]

How bad are the T cells?

If they are very low and he had an MMR- think about rubella or measles encephalitis.

Sullivan, Kathleen 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
sullivank at email.chop.edu<mailto:sullivank at email.chop.edu>



On Dec 22, 2017, at 1:43 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

I am writing to see if anyone has experience with diffuse CNS neurodegeneration without focality on MRI in a patient with CHARGE and atypical complete DGS.   We are planning to send WES but this will likely not impact his current situation.  His prognosis is clearly poor but we would love to provide family with some explanation.

The patient is a 13 mo old male with CHD7 confirmed CHARGE syndrome and atypical complete DGS who transferred to our institution in September.  He was admitted 6 weeks ago with RSV and treated successfully with ribavirin.  2 weeks after discharge, he was seen in clinic with increased fussiness.  KUB showed possible free air; he was readmitted and abdominal CT showed colonic pneumatosis.  He was started on zosyn and bowel rest.  It was felt that perhaps steroids had contributed (he weaning off and was on 0.3mg/kg/day at that time), so a more aggressive wean was started.  He was on cyclosporine as well.

3 days into the admission, he was noted to be difficult to arouse.  MRI at that time (11/20) showed extensive white matter loss as compared to a CT scan from his previous institution from May of this year.  LP showed slight pleocytosis (12 nucleated cells; 26% Neutrophils; 37% lymphocytes; 37% monocytes)  normal protein, normal glucose) with negative bacterial, fungal and viral cultures.  Negative CSF studies include viral PCRs (HSV, VZV, HHV6, JC virus, enterovirus), viral culture, cryptococcal antigen, AFB/bacterial/fungal cultures, and CSF oligoclonal bands.  Urine organic/Serum amino acids are pending.  Since that initial mental status decline he has remained non-interactive.  Repeat MRI (12/15/17) showed no acute progression of white matter volume loss.  There is no evidence of stroke, no post-contrast enhancement, no focal areas of hyperintensity apart from some mild periventricular hyperinstensity that the neuroradiologists felt was more secondary to the volume loss than a primary lesion.

He has remained on broad spectrum antibiotics in addition to fungal and viral prophylaxis.  In the first week, he did not require increased respiratory support, but over the past 7 days, he escalated to CPAP and finally was intubated on Monday due to hypercarbia.  Chest CT showed no evidence of lower respiratory tract disease and he has required minimal pressures/vent support.  Neurology has been involved and he has had no clear evidence of seizures on EEG.  Since intubation he has not initiated spontaneous respirations.  He has maintained normal BP and has not had any changes in liver or kidney function.


Dan




Daniel Dulek, MD
Assistant Professor, Pediatric Infectious Diseases
Director, Peter F. Wright Immunocompromised Host Pediatric ID Service
Vanderbilt University School of Medicine and the Monroe Carell, Jr. Children’s Hospital at Vanderbilt
D-7234 Medical Center North
1161 21st Avenue South, Nashville, TN 37232-2581
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