[CIS-PAGID] Hyper IgM patient with dysphagia and stridor

[Ochs, Hans]

If his hyper IgM is caused by CD40L mutation he is highly suspect of having a malignant process - as Kate has suggested. A retropharyngeal infection/ abscess is another possibility
Is he EBV positive by PCR?
Hans

Sent from my iPhone

On Apr 14, 2012, at 11:59 AM, "Church, Joseph" <JChurch at chla.usc.edu<mailto:JChurch at chla.usc.edu>> wrote:

Colleagues:

I follow an 18yo with XHIM.  He was generally stable until about a year ago when he developed dysphagia and stridor.  These symptoms have progressed and he is currently hospitalized with wasting and severe stridor (although SaO2s run 95-100% even when he is asleep).



Below are the latest of multiple MRIs.

FINDINGS:

Neck:    Again noted is fullness/swelling of the posterior pharynx

subglottic region. This could be due to edema of the esophagus which

is seen more distally on the MRI of the chest. Alternatively, it may

be true retropharyngeal swelling or a mass. There is continued

narrowing of the trachea at the level of vocal cords and inferiorly.

At the level of the vocal cords the tracheal lumen measures

approximately 1-2 mm transversely.  Inferior to the vocal cords the

trachea lumen measures approximately 2-3 mm.  The narrowing extends

approximately 1-2 cm below the vocal cords. There is no evidence of

significant lymphadenopathy. The thyroid gland is normal.



Chest:  There is no significant change.  Again seen is marked mucosal

thickening of the mid and distal esophagus.  No large mediastinal mass

is noted. Please note the post contrast images are limited due to

pulsation artifact such that much smaller lesions may not be seen.

Also calcifications may not be appreciated. As mentioned on the prior

MRI, developing fibrosing mediastinitis cannot be excluded.



IMPRESSION:

1.  Stable marked mucosal of thickening of the esophagus as described

above.

2.  No large mediastinal mass.  Please see above.



His stridor is associated with vocal cord paralysis, presumed to be due to esophogeal process.  ENT and GI have scoped him several times.  Superficial biopsies have not shown evidence of tumor or other inflammatory processes.  Blood PCRs for herpes viruses have been negative.



We are planning a more aggressive biopsy procedure.



Has anyone seen this type of process in HIM previously?  Any suggestions on what to look for on next biopsy?



Thank you for your input.



Joe Church

Children's Hospital Los Angeles














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