[CIS PIDD] [cis-pidd] DGS with neuropsychiatric disease
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Thu Sep 21 11:22:42 EDT 2017
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
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