28 April 2018 : Case report
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Unusual setting of medical care, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Hebah M. Musalem1ABCDEFG*, Qais S. Dirar1ABCDEF, Selwa A.F. Al-Hazzaa2AEFG, Abdul-Aziz A. Al Zoba2AEG, Jeylan El-Mansoury2ADFDOI: 10.12659/AJCR.908036
Am J Case Rep 2018; 19:500-504
Abstract
BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic atrophy to cortical blindness in affected individuals; however, congenital glaucoma has been recently noticed among AGS pediatric patients. According to the literature, aniridia has never been recognized among AGS patients.
CASE REPORT: We report the case of a 4-year-old boy with AGS who had multiple congenital anomalies in the eyes. He was found to have congenital glaucoma, nystagmus, spherophakia with shallow chambers, and aniridia in both eyes. Family history was positive for glaucoma, with consanguineously married parents. According to the genetics report, both parents are carriers of congenital glaucoma genes. A whole-exome sequencing identified IFIH1 heterozygous missense mutation of the patient, which is associated with AGS Type 7. Also, he was diagnosed as having congenital glaucoma with CYP1B1 mutation, homozygous recessive. This case demonstrates the unusual coexistence of bilateral aniridia, a feature not previously reported in ocular findings of AGS.
CONCLUSIONS: In summary, this is the first reported case of aniridia with AGS-related congenital glaucoma in the literature. This paper summarizes the usual ocular manifestation of AGS, also it highlights atypical ocular features in both; AGS as well as congenital glaucoma. The aim of this paper is to lay the foundation for a national database on AGS in Saudi Arabia, which will help create a bridge between genetic data and clinical findings of AGS patients.
Keywords: Aicardi syndrome, Aniridia, Saudi Arabia, Tertiary Care Centers
In Press
17 Mar 2024 : Case report
Rare Presentation of Rapidly Involuting Congenital Hemangioma of the Skull: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.943370
18 Mar 2024 : Case report
Perineal Benign Symmetric Lipomatosis in a Female Patient: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.943803
18 Mar 2024 : Case report
Successful Endovascular Microembolization for Post-Traumatic High-Flow Priapism: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.943467
19 Mar 2024 : Case report
Jejunal Diverticulosis Causing Small Intestinal Volvulus and Closed Loop ObstructionAm J Case Rep In Press; DOI: 10.12659/AJCR.943376
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250