[CIS-PAGID] a question about a 20 mo old boy with FTT

[YaeJean Kim]

Dear all,

This is a f/u.
His thyroid fx still abnormal: endocinology people say this could be
secondary hypothyroidism (low free T4 and still low TSH). I think this child
might have abnormal HPA axis..wonder about GH def as well. I read some
articles about GH insensitivity and immune deficiency (hyper IgM was
reported, STAT 5b mutation was reported..) and growth retardation (this
child weighs 7 kg at 20 mo of age).

We plan to do ACTH stimulation test and GH hormone measurement tomorrow
and STAT flow on monday..

Dear Dr. Sullivan did you mean DKC (dyskeratosis congenita)? He does not
seem to have mucocutaenous findings and nail findings of it.

His lung condition is getting bad (not ARDS yet) with increasing CRP,
more sputum, patchy pulmonary infiltration and pancytopenia : he is now on
meropenem, vancomycin, amphotericin, ganciclovir (antigenemia), oseltamivir
(still influenza positive)...

I appreciate further comments.

YaeJean

------------------------------------------------------------------------------
Other question from  another colleague,


Is there consanguinity? -> *no*

Does he have liver, spleen, lymph node changes? ->* liver is enlarged.*



Could this be HLH (NK=0)? ->  *checked for HLH criteria...not yet satisfied.
*



I can’t see platelets – is that the 142K? -> yes it was 142k but now it is
31K

Have you done ferritin, lipids? -> *will f/u the labs. Ferritin was not
superhigh, TG was ok. *

Does DHR negative mean no activity? It doesn’t sound like CGD.-> *I meant
normal DHR. *





On Fri, Mar 4, 2011 at 7:15 PM, Sullivan, Kathleen <
sullivak at mail.med.upenn.edu> wrote:


> If he was IUGR, think about DKC.

>

>  On Mar 3, 2011, at 11:22 PM, YaeJean Kim wrote:

>

>  Dear colleagues,

>

> Thanks for your feedback, I will talk to our lab medicine people to ask

> further tests.

>

> *There is a correction in my previous email: IgG level went down from 787

> to 226 after about 10 days (not 1 day)...*

>

> His NK cells were identified by CD16+CD56-CD3- and it was 0.

> They also did staining for NKT and it was 3% (CD16+56+3+).

>

> If there is no bacteria from the tracheal culture...if this could be virus

> infection associated BOOP...should I think of steroid (at least of stress

> dose or steroid inhalation)? but I am very nervous about using steroid in

> CMV viremic baby.

>

> Anyway, this weekend will be very tough for the baby and the parents are

> anxious. Thanks.

>

>

> YaeJean

>

> PS)

> My previous patient with CGD (liver abscess) is doing well (now out of

> PICU) after multiple granulocyte infusion. I persuadeed the surgeon and we

> will do the surgery on this coming Monday. Thanks a lot.

>

>

>

>

>

>

>

> On Fri, Mar 4, 2011 at 10:56 AM, <dmvascon at usp.br> wrote:

>

>>

>> Hi YaeJean, good evening

>>

>> Another very interesting case from your casuistry.

>>

>> The clinical features look like a NK deficiency, which is very rare but

>> must be reminded.

>>

>> Is the family consanguineous? It is interesting to look for NK as well as

>> NKT cells, and if possible to test for NK cell cytotoxicity (by a 51Cr

>> release assay). It would be interesting to look for the few (if any) NK

>> cells and their expression of CD56 (dim or high), which possess different

>> functions.Gamma common and Jak3 deficiencies present NK cell deficiencies

>> along with Tcell decreases as well.

>>

>> Some years ago I saw a poster at an ESID meeting of a patient with absent

>> expression of the alpha chain of the CD15 receptor (which shares the beta

>> and gamma chain with IL2 receptor), but they didn't identify the mutation

>> and I've never seen any other citation of this patient.

>>

>> I would try to test for STAT-5 phosphorylation after stimulation by IL-2

>> and IL-15.

>>

>> On the clinical side I would treat aggressively for CMV (and other

>> possible herpesvirus) and think about the possibility of a virus induced

>> BOOP instead of several bacterial pneumonitis.

>>

>> Good luck for your patient.

>>

>> Best regards,

>>

>> Dewton

>>

>> Dewton de Moraes-Vasconcelos

>> University of São Paulo School of Medicine

>>

>> Citando YaeJean Kim <yaejeankim at skku.edu>:

>>

>>

>> Dear all,

>>>

>>> I have another 20 mo old boy to ask your opinions. Sorry but this is

>>> long.

>>>

>>> 20 mo old boy presented with chronic sino-pulmonary infections.

>>> already has 4 hospitalization d/t pneumonia to other hospital in 2010

>>>

>>> This time, first presented to other hospital d/t influenza and

>>> pneumococcal

>>> bacteremia for which he received ICU care (IVIG was given)

>>> He continued to have desaturation and pulmonary sx -> transferred to our

>>> PICU.

>>>

>>> FHX: his sister died at age 3 y d/t aspiration pneumonia per mom. She

>>> had develpmental delay, FTT and serious infection [r/o pulmonary TB (AFB

>>> trace one time-> medication done, candida septisemia (nosocomial?)],

>>> seizure

>>> disorder. [immune w/o of sister showed normal DHR, lympho subset shoed

>>> decreased NK (less than 1%), C4 (5.2)] no further w/o.

>>>

>>> Back to this patient:

>>> His condition has been up and down (pulmonary sx aggravated with eating,

>>> we

>>> were concerned about gastroesophageal reflux and plan to pH monitoring

>>> but

>>> missed the chance to do the study..esophagogram was done to check for H

>>> type

>>> TE fistula which was negative.

>>>

>>> His lab on arrival at our hospital:

>>> CBC (2/19)  4.77-42.1-142K (diff count: S75, L21, M3.6), NAC 3.5, ALC 1.0

>>>

>>> DHR negative, IgG 787 mg/dL, IgA 73 mg/dL, IgM 452 mg/dL, IgE 0 U/mL,

>>>  CH50

>>> 44 U/mL

>>>  -> before we got the lympho subset..based on incrased IgM, we did

>>> CD40/CDL

>>> flow which was OK.

>>>

>>> Lympho subet

>>> CD 19:  0.18 x10^9/L [median 0.8 (nl range 0.2-2.1)]

>>> CD3:     0.74             [2.3 (nl 0.9-4.5)]

>>> CD4      0.67             [1.3 nl 0.5-2.4)]

>>> CD8      0.69             [0.8 (nl 0.3-1.6)]

>>> NK        0                 [0.4 (nl 0.1-1.0)]

>>>

>>> CD19   19%   [24 (14-44)]

>>> CD3     77%   [64 (43-760)]

>>> CD4     70%   [37 (23-48)]

>>> CD8     9%     [24 (14-33)]

>>> NK       0%     [10  (4-23)]

>>>

>>> He has now CMV antigenemia over 100/slide for which he is on ganciclovir,

>>> I

>>> started bactrim (no PCP identified though), and he also has on

>>> amp/sulbactam

>>> (sinusitis and pneumonia, d/t prabable aspiration..)

>>> His chest CT (1/26 outside hospital): multifocal consolidation and

>>> peribronchild infilraion wih multiple mediastinal LN enlargement (this

>>> was

>>> after influenza, pneumococcal bacteremia)

>>> a f/u chest CT (2/19 on arrival to our hospital): internal

>>> improvement...with periportal edema..

>>>

>>> NOW, his condition really deteriorated after (waxing and waning over the

>>> 10

>>> d), He is in PICU again. lympho proliferation is pending..other gene

>>> studies

>>> pending..

>>> with ganciclovir, he has significant cytopenia..1.35-30.8-31K: we are

>>> giving

>>> GCSF..

>>> He has thyroid function abnormality, persistent hyponatremia...

>>>

>>> I thougth first he might have hyper IgM..then I thought SCID. But the

>>> initial lympho subset could have been just low d/t recent significnat

>>> infection and the percent does not really match..He has 0% of NK cell

>>> (his

>>> sister had also low countss)..

>>> His IgG went down from 787 to 226 after about 1 days...I gave further

>>> IVIG.

>>>

>>> At this point, I'd like to ask your opinion about which direction I

>>> should

>>> go to narrow down the ddx.

>>> Thanks a lot.

>>>

>>> YaeJean

>>>

>>>

>>

>>

>>

>

>  Kate Sullivan, MD PhD

> 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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