DiGeorge syndrome with sacral myelomeningocele and epilepsy
نویسندگان
چکیده
منابع مشابه
A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy
DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures. Spina bifida is caused by failure of neurulation, including a disturbance in the adhesion processes at the neurula stage. Spina bifida has been reported as a risk factor for epilepsy. ...
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Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...
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متن کاملDiGeorge syndrome with mild episodic hypocalcemia
7. Nguyen NP, Borok tL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. thorax. 2009;64:174-8. 8. roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta clin Bel. 1983;38:329-32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, rodríguez JM, Gil P, et al. incre...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2017
ISSN: 1817-1745
DOI: 10.4103/jpn.jpn_92_17