Scopus
YÖKSİS Eşleşti
DiGeorge syndrome with sacral myelomeningocele and epilepsy
Journal of Pediatric Neurosciences · Ekim 2017
YÖKSİS Kayıtları
DiGeorge syndrome with sacral myelomeningocele and epilepsy
Journal of Pediatric Neurosciences · 2017 Emerging Sources Citation Index (ESCI)
DOÇENT MELİKE EMİROĞLU →
Makale Bilgileri
DergiJournal of Pediatric Neurosciences
Yayın TarihiEkim 2017
Cilt / Sayfa12 · 344-345
Scopus ID2-s2.0-85044745253
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.
Yazarlar (3)
1
Gulsum Alkan
ORCID: 0000-0003-3384-769X
2
Melike Emiroglu
ORCID: 0000-0003-1307-0246
3
Ayşe Kartal
Anahtar Kelimeler
DiGeorge syndrome
epilepsy
neural tube defects
Kurumlar
Selçuk Üniversitesi
Selçuklu Turkey
Metrikler
1
Atıf
3
Yazar
3
Anahtar Kelime