تقرير
Diagnostic approach to Aicardi syndrome: A case report.
| العنوان: | Diagnostic approach to Aicardi syndrome: A case report. |
|---|---|
| المؤلفون: | Cuenca NTR; Fundación Universitaria de Ciencias de la Salud (FUCS), Bogotá, Colombia., Peñaranda MFC; Universidad El Bosque, Bogotá, Colombia., Valderrama CAC; Universidad El Bosque, Bogotá, Colombia., Ortiz SA; Universidad El Bosque, Bogotá, Colombia.; Radiology, Fundación Santa Fe de Bogotá. Bogotá, Colombia., Ortiz AFH; Universidad El Bosque, Bogotá, Colombia.; Radiology, Fundación Santa Fe de Bogotá. Bogotá, Colombia. |
| المصدر: | Radiology case reports [Radiol Case Rep] 2022 Jun 20; Vol. 17 (9), pp. 3035-3039. Date of Electronic Publication: 2022 Jun 20 (Print Publication: 2022). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101467888 Publication Model: eCollection Cited Medium: Print ISSN: 1930-0433 (Print) Linking ISSN: 19300433 NLM ISO Abbreviation: Radiol Case Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: 2015-: Amsterdam : Elsevier Original Publication: Seattle, WA : University of Washington, 2006- |
| مستخلص: | Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived at the emergency department with stiffening of arms and legs; therefore, an electroencephalogram was performed, showing generalized polypots confirming infantile spasms. Moreover, magnetic resonance was performed, showing complete agenesis of the corpus callosum. The patient was then transferred for an ophthalmoscopic examination, which evidenced multiple hypopigmented chorioretinal lesions corresponding to chorioretinal lacunae. Based on the clinical and radiological findings, the diagnosis of Aicardi syndrome was established, and treatment with anticonvulsive therapy and physiotherapy was initiated. This case report highlights the main characteristics that clinicians should consider to suspect this rare genetic condition, emphasizing the imaging and electroencephalographic findings. (© 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington.) |
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| فهرسة مساهمة: | Keywords: Agenesis of the corpus callosum; Aicardi syndrome; Chorioretinal lacunae; Electroencephalogram; Infantile spasms; Magnetic resonance imaging; Neurodevelopmental disorder |
| تواريخ الأحداث: | Date Created: 20220627 Latest Revision: 20220716 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC9228285 |
| DOI: | 10.1016/j.radcr.2022.05.067 |
| PMID: | 35755116 |
| قاعدة البيانات: | MEDLINE |
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