DiGeorge syndrome

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Characteristic signs and symptoms

congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities, differences in facial features, infections. (Infections are common in children due to problems with the immune system's T-cell mediated response that in some patients is due to an absent or hypoplastic thymus)
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mild

recurrent

CATCH Cardiac

Abnormality (especially tetralogy of facies

Fallot)
Abnormal Thymic Cleft

aplasia

palate

Hypocalcemia/Hypoparathyroidism.

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Embriology

traditionally been described as abnormal development of the third and fourth pharyngeal pouches, defects involving the first to sixth pouches are known to occur
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22q11.2 deletions
the mechanism of deletion has been linked to low copy number repeats (LCRs). Four discrete blocks of LCRs (lettered A-D) are present in this genetic region, and every block consists of several modules of repeats that have various lengths and orientations within a block T-box transcription factor (TBX1) deficiency is the main problem

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Immunology: Thymic hypoplasia or aplasia leading to defective T-cell function is the hallmark of DiGeorge anomaly.

Partial below-normal proliferative response to mitogens, and the immune parameters may improve with time.

Complete no T-cell response to mitogens. These patients usually have very few detectable T cells in peripheral blood (1-2%) and usually require treatment.

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susceptibility to infections

systemic fungal infections, jiroveci (previously Pneumocystis carinii) infection viral infections.

Pneumocystis

disseminated

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Behavioral and psychiatric problems

Children and adults with DiGeorge anomaly have high rates of behavioral, psychiatric, and communication disorders. Children have high rates of ADHD, anxiety, and affective disorders. Adults have high rates of psychotic disorders, particularly schizophrenia. An estimated 25% of children with 22q11 deletion syndrome develop schizophrenia in late adolescence or adulthood.
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Association with autoimmune and other diseases

Graves

disease cytopenias thrombocytopenic purpura,

immune immune juvenile

rheumatoid arthritislike polyarthritis uveitis eczema

autoimmune

asthma

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