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NON-CARDIAC DIGEORGE SYNDROME IN AN ADOLESCENT GIRL WITH EPILEPSY (A CASE REPORT)

Journal: International Journal of Advanced Research (Vol.11, No. 08)

Publication Date:

Authors : ; ;

Page : 859-864

Keywords : Deletion 22q11.2 Di George Syndrome Congenital Heart Defect Severe Hypocalcaemia Epilepsy;

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Abstract

22q11.2 deletion syndrome is a fairly common neurogenetic syndrome, presenting with a wide range of clinical. It can manifest as facial dysmorphia, congenital heart defects, thymic hypoplasia responsible for a predominantly cellular immune deficiency, parathyroid and thyroid abnormalities, speech delay, growth retardation and neuropsychological disorders. We report the case of a patient with this deletion presenting with severe hypocalcaemic crises complicated by neurological impairment without cardiac or immune involvement.

Last modified: 2023-10-10 21:31:47