DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
MEDKNOW PUBLICATIONS & MEDIA PVT LTD
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect. Here, we report a case of an infant with DGS with a sacral myelomeningocele inherited from the mother. The infant developed epilepsy without hypocalcemia or cortical dysgenesis which is considered related to the sacral myelomeningocele.
Açıklama
Anahtar Kelimeler
DiGeorge syndrome, epilepsy, neural tube defects
Kaynak
JOURNAL OF PEDIATRIC NEUROSCIENCES
WoS Q Değeri
N/A
Scopus Q Değeri
Q3
Cilt
12
Sayı
4
