Case history
Case history
A newborn girl presents with cyanosis after an unremarkable pregnancy and delivery. A hyperoxia test suggests congenital heart disease, and an echocardiogram confirms tetralogy of Fallot. The infant subsequently has a seizure, and serum calcium is 5.8 mg/dL. Intact PTH level is low. T-cell enumeration by flow cytometry reveals a CD3+ cell count of 780 cells/mm^3. At age 4, she begins schooling but has difficulty performing up to the level of her peers. She has hypernasal speech that is sometimes difficult to understand. Nevertheless, she completes her schooling and is able to work productively.
Other presentations
The variability of DiGeorge syndrome leads to many different presentations other than the classic one described. A patient may have only one or two of the features, but if they do not have the classic features of cardiac disease or symptomatic hypocalcemia, the diagnosis may be missed. The diagnosis may only be discovered when the patient's child inherits the disorder and has a more severe presentation. The presentation may vary even within families and with identical deletions.[9] The syndrome may also occasionally present with rash and lymphadenopathy as in the case of atypical DiGeorge syndrome (complete syndrome with proliferating autoreactive oligoclonal T-cell populations).[6] A wide range of congenital anomalies other than the typical ones has been described in some patients with DiGeorge syndrome. Additionally, some patients with Parkinson’s disease have been found to have deletions in chromosome region 22q11.2.[10]
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