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Journal of Neurology and Neurorehabilitation Research | Volume 3
August 23-24, 2018 | Paris, France
Neurology and Neurological Disorders
18
th
International Conference on
DiGeorge syndrome presenting with seizures: A case report
Hoda Khatib Masjedi, Samane Noroozi Asl
and
Ali Rajabpour Sanati
Birjand University of Medical Sciences, Iran
D
iGeorge syndrome was described for the first time in 1968
as a defect affecting structures derived from the third
and fourth embryonic pharyngeal arches along with absent
parathyroid glands. According to the low incidence of this
disease as well as a wide spectrum of symptoms, it is essential
to report cases with less prevalent features. In this case report,
a child has been introduced with a diagnosis of DiGeorge
syndrome presenting with seizures.
The patient was a 27-day-old baby girl due to seizures admitted
to hospital Imam Reza (AS), Mashhad, Iran. Hypocalcemia was
observedinearlyclinicaltrialsrequested.Thepatientunderwent
echocardiography according to holosystolic murmur grade 3/6
auscultation, which showed a patent ductus arteriosus (PDA),
tetralogy of Fallot (TOF), ventricular septal defect (VSD), atrial
septal defect (ASD), and pulmonary atresia (PA). No thymus was
found on chest x-ray, and evidence of previous conflicts was
observed in the heart. Finally, Fluorescent in situ hybridization
(FISH) was performed to check out Tuple gene deletion on
chromosome 22q11.2, and the diagnosis was confirmed for
Disgorge Syndrome.
Although the incidences of neurological symptoms associated
with hypocalcemia suggest a wide range of diseases as a
differential diagnosis, pediatrics should consider the heart
disorders for DiGeorge syndrome through clinical examinations
and imaging, if necessary.
e:
conrado@ufscar.br