[CIS PIDD] [cis-pidd] DGS with neuropsychiatric disease

[CIS-PIDD]

Hi Mike,

I believe Anne Basset in Toronto has the largest adult cohort. Maybe it
would be a good idea to contact her: Anne.bassett at utoronto.ca

Best,

Cecilia Poli MD

On Thu, Sep 21, 2017 at 10:22 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Dear colleagues,
>
> I have a complicated Digeorge patient with severe psychiatric disease, and
> I would be most grateful for thoughts.
>
> She is a now 18 year old young lady who had longstanding developmental
> delay, but was functional, active and attended school until age 13 years.
> At that time, she had abrupt onset of verbal non-responsiveness shortly
> after a respiratory infection.  She at times seemed to be responding to
> internal stimuli.  She had no motor abnormalities.
>
> She was seen by multiple subspecialties across several institutions.  EEG
> was normal, MRI normal, metabolic workup normal, and testing for NMDAR
> encephalitis was negative.   She was empirically trialed on IVIG without
> improvement.  Psychiatry diagnosed her with catatonia and possible
> schizophrenia and treated her with Abilify and klonopin.  She is now able
> to follow basic commands and intermittently converses normally, but has
> gained over 40kg since starting these medications.
>
> Prior immune workup was in keeping with partial Digeorge:
> Absolute CD3 count: 1,996 cells per mcL,
> absolute CD4 count 1,300.
> Absolute CD8 count 633,
> absolute CD19 count: 464 cells/mcL,
> absolute CD3-CD16+CD56+: 389 cells per mcl
>
> Serum IgG 1,583 mg/dL.  Serum IgM 50.  Serum IgA 197
>
> Is there anything else that we might be missing?  If this is purely early
> onset schizophrenia, is there any psychiatrist with a strong interest in
> this population who might be able to help guide therapy?
>
> Thanks so much,
> Mike
>
>
> *Michael D. Keller, MD*
>
> Assistant Professor, Division of Allergy / Immunology
>
> Center for Cancer and Immunology Research
>
> Jeffrey Modell Diagnostic and Research Center for
>
> Primary Immunodeficiency Disorders
>
> Children's National Health System
>
> 111 Michigan Ave NW
> <https://maps.google.com/?q=111+Michigan+Ave+NW&entry=gmail&source=g>,
> M7745A
>
> Washington, DC 20010
>
> Clinic: 202.476.2140 <(202)%20476-2140>
>
> Office: 202.476.5843 <(202)%20476-5843>
>
> Fax: 202.476.2280 <(202)%20476-2280>
>
> www.ChildrensNational.org
>
>
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