J Clin Neurol.  2020 Jan;16(1):154-156. 10.3988/jcn.2020.16.1.154.

Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy

• Lee SK
• Lee EJ
• Kwun KH
• Kim TJ
• Lee SK

• KMID: 2467798
• DOI: http://doi.org/10.3988/jcn.2020.16.1.154

Abstract

No abstract available.

MeSH Terms

Delayed Diagnosis*
DiGeorge Syndrome*
Epilepsy, Generalized*

Figure

• 

  Fig. 1 Clinical features and laboratory findings of 22q11.2 deletion syndrome. A: Dysmorphic facial features of the patient, including of fullness of eyelids with short palpebral fissures, malar flatness, broad nasal bridge, broad nasal tip and protuberant ears. B: The EEG showed a nearly continuous fast background rhythm. Interictal activity consisted of bifrontal symmetrical spike-and-waves. C: Abdominal computerized tomography scan revealed atrophied right kidney and compensatory hypertrophied left kidney (arrows). D: A two-color metaphase (Vysis) after FISH with a dual TUPLE1 red spectrum/ARSA green spectrum probe. The normal 22 chromosome had two red signals meanwhile the deletion 22q11.2 chromosome had one red signal. FISH: fluorescence in situ hybridization.

Reference

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