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

[CIS-PIDD]

Hi

Several groups are studying schizophrenia in 22q11 and COMT polymorphism. I have been following this group from Israel that has published over a decade. There is no consensus however:
Gothelf et al. Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. Biol Psychiatry. 2014 Mar 1;75(5):406-13
Javier

Javier Chinen,MD PhD
TCH Allergy and Immunology

On Sep 21, 2017, at 11:22 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto: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, M7745A

Washington, DC 20010

Clinic: 202.476.2140

Office: 202.476.5843

Fax: 202.476.2280

www.ChildrensNational.org<http://www.childrensnational.org/>


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