Alkan Gülsüm, Emiroglu Melike Keser, Kartal Ayse
Department of Pediatric Infectious Diseases, Faculty of Medicine, Selcuk University, Konya, Turkey.
Department of Pediatric Neurology, Faculty of Medicine, Selcuk University, Konya, Turkey.
J Pediatr Neurosci. 2017 Oct-Dec;12(4):344-345. doi: 10.4103/jpn.JPN_92_17.
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.
迪乔治综合征（DGS）是最常见的微缺失综合征。DGS的表型高度可变，涉及面部、腭咽、心脏、免疫、内分泌和神经精神异常。尽管神经管缺陷（NTDs）在标准儿科教科书中未被描述为DGS的组成部分，但已有少数DGS合并NTDs的病例报告。此外，在DGS患者中，癫痫发作可能由于低钙血症或皮质发育异常引起。很少有NTDs且无皮质缺陷的癫痫病例报告。在此，我们报告一例患有DGS的婴儿，其患有从母亲遗传而来的骶部脊髓脊膜膨出。该婴儿在没有低钙血症或皮质发育异常的情况下发生了癫痫，这被认为与骶部脊髓脊膜膨出有关。
