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-Mansoury2ADF
Am J Case Rep 2018; 19:500-504
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
23 November 2022 : Case reportMepolizumab as a Potential Protective Factor of COVID-19 Mortality: A Case Report of Chronic Bronchitis and...
Am J Case Rep In Press; DOI: 10.12659/AJCR.938450
01 November 2022 : Case reportCentral Retinal Vein Occlusion After Discontinuation of Rivaroxaban Therapy in a Young Patient with COVID-1...
Am J Case Rep 2022; 23:e937739
25 October 2022 : Case reportInhaled Nitric Oxide in Acute Severe Pulmonary Hypertension and Severe Acute Respiratory Distress Syndrome ...
Am J Case Rep 2022; 23:e937147
25 Nov 2022 : Case reportA Case Report of Listeria Meningitis with Severe Rhabdomyolysis and Normal Renal Function
Am J Case Rep In Press; DOI: 10.12659/AJCR.938024
24 Nov 2022 : Case reportCardiac Arrest Following Torsades de Pointes Caused by Hypokalemia and Catecholamines in a Patient with Con...
Am J Case Rep In Press; DOI: 10.12659/AJCR.938609
24 Nov 2022 : Case reportA Large Pericardial Cyst in the Left Cardiophrenic Causing Persistent Chest Pain and Cough: A Case Report
Am J Case Rep In Press; DOI: 10.12659/AJCR.937785
Most Viewed Current Articles
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406