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  • Myriad Manifestations of Aicardi-Goutieres Syndrome - A Tale of Different Worlds

Myriad Manifestations of Aicardi-Goutieres Syndrome - A Tale of Different Worlds

Myriad Manifestations of Aicardi-Goutieres Syndrome - A Tale of Different Worlds


FLICNA Podcasts
  • Amna Al Futaisi
  • Areeba Wasim
  • Arvinder Singh Wander
  • Javeria Raza Alvi
  • Tipu Sultan
March 16, 2024
CPD/CME Credits

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Topic: Myriad Manifestations of Aicardi-Goutieres Syndrome - A Tale of Different Worlds.

Talk By: Dr. Javeria Raza Alvi ( Speaker ), Dr. Areeba Wasim ( Speaker ), Dr. Arvinder Singh Wander ( Moderator ), Prof. Tipu Sultan ( Expert Faculty ), Prof. Amna Al Futaisi ( Expert Faculty ).

When: Saturday, March 16, 2024, at 9:00 AM Eastern Time ( US / Canada ).

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Dr. Areeba Wasim graduated from the King Edward Medical University Lahore, Pakistan (2012). She completed her Pediatric residency from the King Edward Medical University, Mayo Hospital Lahore Pakistan followed by Pediatric Neurology Fellowship from University of Child Health Sciences & Children’s Hospital Lahore Pakistan (2021). She holds the membership of Royal College of Pediatrics and Child Health, UK (2023) and currently serving as Specialist Pediatric Neurologist at Sultan Qaboos University Hospital, Oman.

Dr. Javeria Raza Alvi graduated from the Baqai Medical University Karachi, Pakistan (2011). She completed her Pediatric residency at University of Child Health sciences and Children’s Hospital Lahore Pakistan followed by Pediatric Neurology Fellowship from the same prestigious university hospital (2021). Currently she is working as Assistant Professor Pediatric Neurology at University of Child Health Sciences and Children’s Hospital Lahore Pakistan.

Prof. Tipu Sultan graduated from Allama Iqbal Medical College (1996) and did his Fellowship in Pediatrics (2004) and pediatric Neurology (2006) from Glasgow, UK. He completed his Masters in Epilepsy from Leeds, UK. Currently, he is working as head of the Department of Pediatric Neurology at Children's Hospital, Lahore, Pakistan. He is the founder member of the Pakistan Pediatric Association (PPA) Neurology Expert Group (2008) and among the pioneer supervisors of the College of Physician and Surgeon Pakistan (CPSP) in the subject of Pediatric Neurology (2013). He has trained more than two dozen pediatric neurologists, and in recognition of his services for Pediatric Neurology, he has been awarded the "Neurology Advocacy Award" by the Pakistan Society of Neurology (PSN). Subsequently, his services have been recognized globally, and he was awarded the "Bernard D'Souza Award" by the Child Neurology Society of USA at its 45th Annual Meeting in Vancouver, BC, Canada, in 2016. He has remained the Country Representative (ND) for the Asia Oceana Child Neurology Association (AOCNA) for many years and is currently serving as chair of the scientific committee at AOCNA & member at 18ICNC. He is actively involved in research and training activities, and about 100 publications are of his credit. He is the Pediatric Neurology Section Editor of the Pakistan Journal of Neurological Sciences (Official Journal of PSN) and an invited editor of PPRJ (Pakistan Pediatric Review Journal). He is the author and editor of a book titled “Epilepsy: Psychological Concerns of Parents” and a contributor to child neurology chapters in many books. He has been an invited speaker at various national and international forums. Currently, he is the senior vice president of the Child Neurology Group of PPA and has been involved in the organization of annual child neurology conferences since 2009. He has organized dozens of seminars and symposia for the teaching and training of family physicians and pediatricians. He is also doing clinics for the community in far-flung areas and is involved in research. In recognition of his services in child neurology in Pakistan, he has been awarded an honorary staff position at UCL, Institute of Neurology, London, UK.

Prof. Amna Al Futaisi graduated from Sultan Qaboos University Oman (1995). She completed her pediatric residency at Montreal Children’s Hospital, McGill University, Canada, and a Pediatric epilepsy/electrophysiology fellowship from the Hospital for Sick Children, University of Toronto, Canada (2004). Currently, she is Head of the Child Health Department and Professor of Pediatric Neurology at Sultan Qaboos University Hospital Oman. She is among the pioneer pediatric neurologists from the region of Oman and the first mentor to fellowship in pediatric neurology in Oman. She is Chairperson of clinical examination at the College of Medicine and Health Sciences, Sultan Qaboos University Oman. She is an executive member of the pediatric council of the Arab Board of Medical Specialization, and she is a member of the examination subcommittee of the Arab Board of Neurology. She is the President of the Oman League Against Epilepsy (OLAE) and Vice President of the Oman Neurology Society (ONS). She has been an invited speaker at various national and international conferences and seminars. She has an immense interest in clinical research in pediatric neurology, neurogenetics, cerebral palsy, and epilepsy, with more than 100 publications in peer-reviewed journals.

Dr. Arvinder Wander graduated from Christian Medical College Ludhiana, India. He completed his pediatric residency at Dayanand Medical College Ludhiana, India, and did a Pediatric Neurology Fellowship from All India Institute of Medical Sciences, New Delhi, India. At present, he is working as an Associate Professor of Pediatric Neurology and Head of the Department of Pediatrics at All India Institute Of Medical Sciences Bathinda, Punjab, India.

In the complex realm of childhood neurogenetic syndromes, an update is vital regarding their pathophysiology and myriad clinical-radiological manifestations for clinicians as well as researchers. Aicardi-Goutières syndrome (AGS) is a rare immune-mediated neurodevelopmental disorder with infantile-onset progressive encephalopathy characterized by the neuroradiologic features of basal ganglia and periventricular white matter calcification, leukodystrophy, and cerebral atrophy with striking evidence of CSF lymphocytosis and elevated levels of interferon-alpha (IFN-alpha). We aim to present cases from different geographic regions with varied manifestations of AGS mimicking pseudo-TORCH, unexplained leukoencephalopathy, and novel aspect of cerebral arteriopathy related to inflammatory aetiology. We aim to discuss underlying genetic mutations portraying such varied phenotypes and implications of these clinical-radiological findings with an aim that it will help young researchers and clinicians in early identification and avoidance of exhaustive diagnostic cascade in regions where neurogenetic facilities are not readily accessible. Though an area of wide research prospects, treatment implications shall also be discussed.


By attending this session, you will be able to learn the following points.

  • Highlighting myriad clinical-radiological manifestations of Aicardi Goutières Syndrome, unveiling the associated genotype and pathophysiology.
  • Discuss about overlapping differentials like Pseudo-TORCH, genetic leukoencephalopathies and other arteriopathies and to ponder the availability of novel treatment options.
  • Long-term follow-up is required for surveillance of evolving neurological and systemic complications and pre-symptomatic identification.
  • Future research prospects in regard to AGS’ genotype-phenotype correlation and treatment proposals.


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