This post has been self-published on Youth Ki Awaaz by Sukant Khurana. Just like them, anyone can publish on Youth Ki Awaaz.

What Is Aicardi Syndrome?

More from Sukant Khurana

By Koushani Das, Farooq Ali Khan, Abhishek Kumar, Raamesh Gowri Raghavan, and Sukant Khurana:

A rare genetic malformation syndrome, termed as Aicardi Syndrome or familial infantile encephalopathy was first described by in 1961 by Jean Francois Aicardi, a French pediatrician. It is found exclusively in young female population and rarely in males with Klinefelter’s syndrome having XXY type chromosome. This disease is inherited in an autosomal recessive manner.


Dysgenesis of corpus callosum, that is, complete absence of tissue connecting the left and right side of the brain, asymmetry between two sides of the brain, reduced brain folds and grooves , enlargement of fluid-filled cavities, microcephaly (small head) , chorioretinal lacunae, that is, defects in the retina, Scoliosis (abnormal curvature of the spine), gastrointestinal problems like constipation and diarrhea accompanied by severe epilepsy are the foremost symptoms of this rare disease. This neurological disorder is characterized by infantile spasms in young children less than one year of age and is generally fatal.

Occurrence And Initial Symptoms

  • Symptoms of this disease appear within first six-months of life.
  • The initial symptoms include vomiting, unusual facial features, feeding difficulties and lack of motor and social skills
  • Aicardi Syndrome is caused by mutation in any of the 6 genes named as TREX1, RNASEH2B, RNASEH2A, RNASEH2C, SAMHD1, ADAR.


Increased level of interferon gamma and lymphocytes support the diagnosis of Aicardi syndrome[1].

Differential diagnosis in Aicardi syndrome that is:

  • Measurement of lactic and pyruvic acid in blood and cerebrospinal fluid to exclude the presence of mitochondrial encephalopathy.
  • Measurement of lysosomal enzymes on leukocytes to exclude leukodystrophies, is generally carried out to exclude the presence of other neurological pathologies [2]
  • Ophthalmological examination and magnetic resonance imaging ( MRI) are used to detect chorioretinal lacunae and gross cerebral symmetry respectively. Transfontanellar ultrasonography in the neonatal period is the gold- standard examination to detect some features of this rare disease since it is cheap and has higher accuracy compared to MRI testing.
  • Anti epileptic drugs (AED) , like vigabatrin can be supplied to patients to control adequate seizures. Physical therapies including the use of splints can help to prevent contractures. Injections of Botulinum Toxin (Botox), currently available at $382 in U.S.A, by American Society of Plastic surgeon[4], is sometimes required for this ailment. Patients also benefit from tube-feeding.
  • Patients with Aicardi Syndrome should be regularly screened for treatable condition, most probably glaucoma and endocrine problems like hypothyroidism.

Post Mortem Finding

A post mortem finding on Aicardi Syndrome (July- August, 1989) published by Pediatric Neurology, Vol 5, by Shin Ichiro Hamano says that , a female infant at about 5 yrs of age when subjected to a pathological examination, revealed cortical heterotopias, hypoplasia of optic nerve and cavum septum pellucidum .

Case Studies/Reports

A 1-month year old girl was suspected with ocular malformations including an anterior chamber cyst in one eye which was surgically removed.

A rare occurrence in a 15 month year old female child with regular features of Aicardi Syndrome , a tumor was located at the left ventricular atrium (choroid plexus papilloma).

Until 2014, at least 400 cases have been known which include rarely two cases in males having 47 chromosomes.

Social Media Exposure

Aicardi Syndrome Foundationis a volunteer-based nonprofit organization which works to raise funds, supports family and awareness towards Aicardi Syndrome .

Journey and real life stories of Aicardi affected children can be visited on this website. Below is an example.

“ Addie is now almost 10 years old! She has come so far! When diagnosed at 5 months, we were told she would never walk or talk. She now has accomplished both! She attends a therapeutic public school. She says “no cool” every morning as she’d rather stay home than go to school! As you can see we are working on her /s/ blends!

She loves music, swinging and all things Disney and is a happy, shining star in our eyes!” 

Ongoing Studies

At Baylor College of Medicine, scientists or researchers have been looking for genetic changes that may be the cause of Aicardi Syndrome with the help of a new method, microarray-based comparative genomic hybridization (array-CGH). This technique involves a DNA chip, the size of a microscope slide, with hundreds of thousands of small pieces of DNA attached to it.

University of California, San Francisco (UCSF) is currently investigating and working on the genetic disorders of the brain development that affect the corpus callosum as in Aicardi Syndrome.


Aicardi Syndrome is a problem of probability and Manchester NIHR Biomedical Research Centre is currently working after this rare disease . There are no known ways to prevent Aicardi Syndrome as no specific genetic mutation has been implicated in Aicardi syndrome.


1. neuropathology of Aicardi syndrome (European journal of pediatric neurology) — Peter G Barth

2. Differential Diagnosis– Department of child neurology and psychiatry,University of Pavia, by Giovanni s


Dr. Sukant Khurana runs an academic research lab and several tech companies. He is also a known artist, author, and speaker. You can learn more about Sukant at or and if you wish to work on biomedical research, neuroscience, sustainable development, artificial intelligence or data science projects for public good, you can contact him at 

You must be to comment.

More from Sukant Khurana

Similar Posts

By Arun Sawant



    If you do not receive an email within the next 5 mins, please check your spam box or email us at

      If you do not receive an email within the next 5 mins, please check your spam box or email us at

        If you do not receive an email within the next 5 mins, please check your spam box or email us at

        Wondering what to write about?

        Here are some topics to get you started

        Share your details to download the report.

        We promise not to spam or send irrelevant information.

        Share your details to download the report.

        We promise not to spam or send irrelevant information.

        An ambassador and trained facilitator under Eco Femme (a social enterprise working towards menstrual health in south India), Sanjina is also an active member of the MHM Collective- India and Menstrual Health Alliance- India. She has conducted Menstrual Health sessions in multiple government schools adopted by Rotary District 3240 as part of their WinS project in rural Bengal. She has also delivered training of trainers on SRHR, gender, sexuality and Menstruation for Tomorrow’s Foundation, Vikramshila Education Resource Society, Nirdhan trust and Micro Finance, Tollygunj Women In Need, Paint It Red in Kolkata.

        Now as an MH Fellow with YKA, she’s expanding her impressive scope of work further by launching a campaign to facilitate the process of ensuring better menstrual health and SRH services for women residing in correctional homes in West Bengal. The campaign will entail an independent study to take stalk of the present conditions of MHM in correctional homes across the state and use its findings to build public support and political will to take the necessary action.

        Saurabh has been associated with YKA as a user and has consistently been writing on the issue MHM and its intersectionality with other issues in the society. Now as an MHM Fellow with YKA, he’s launched the Right to Period campaign, which aims to ensure proper execution of MHM guidelines in Delhi’s schools.

        The long-term aim of the campaign is to develop an open culture where menstruation is not treated as a taboo. The campaign also seeks to hold the schools accountable for their responsibilities as an important component in the implementation of MHM policies by making adequate sanitation infrastructure and knowledge of MHM available in school premises.

        Read more about his campaign.

        Harshita is a psychologist and works to support people with mental health issues, particularly adolescents who are survivors of violence. Associated with the Azadi Foundation in UP, Harshita became an MHM Fellow with YKA, with the aim of promoting better menstrual health.

        Her campaign #MeriMarzi aims to promote menstrual health and wellness, hygiene and facilities for female sex workers in UP. She says, “Knowledge about natural body processes is a very basic human right. And for individuals whose occupation is providing sexual services, it becomes even more important.”

        Meri Marzi aims to ensure sensitised, non-discriminatory health workers for the needs of female sex workers in the Suraksha Clinics under the UPSACS (Uttar Pradesh State AIDS Control Society) program by creating more dialogues and garnering public support for the cause of sex workers’ menstrual rights. The campaign will also ensure interventions with sex workers to clear misconceptions around overall hygiene management to ensure that results flow both ways.

        Read more about her campaign.

        MH Fellow Sabna comes with significant experience working with a range of development issues. A co-founder of Project Sakhi Saheli, which aims to combat period poverty and break menstrual taboos, Sabna has, in the past, worked on the issue of menstruation in urban slums of Delhi with women and adolescent girls. She and her team also released MenstraBook, with menstrastories and organised Menstra Tlk in the Delhi School of Social Work to create more conversations on menstruation.

        With YKA MHM Fellow Vineet, Sabna launched Menstratalk, a campaign that aims to put an end to period poverty and smash menstrual taboos in society. As a start, the campaign aims to begin conversations on menstrual health with five hundred adolescents and youth in Delhi through offline platforms, and through this community mobilise support to create Period Friendly Institutions out of educational institutes in the city.

        Read more about her campaign. 

        A student from Delhi School of Social work, Vineet is a part of Project Sakhi Saheli, an initiative by the students of Delhi school of Social Work to create awareness on Menstrual Health and combat Period Poverty. Along with MHM Action Fellow Sabna, Vineet launched Menstratalk, a campaign that aims to put an end to period poverty and smash menstrual taboos in society.

        As a start, the campaign aims to begin conversations on menstrual health with five hundred adolescents and youth in Delhi through offline platforms, and through this community mobilise support to create Period Friendly Institutions out of educational institutes in the city.

        Find out more about the campaign here.

        A native of Bhagalpur district – Bihar, Shalini Jha believes in equal rights for all genders and wants to work for a gender-equal and just society. In the past she’s had a year-long association as a community leader with Haiyya: Organise for Action’s Health Over Stigma campaign. She’s pursuing a Master’s in Literature with Ambedkar University, Delhi and as an MHM Fellow with YKA, recently launched ‘Project अल्हड़ (Alharh)’.

        She says, “Bihar is ranked the lowest in India’s SDG Index 2019 for India. Hygienic and comfortable menstruation is a basic human right and sustainable development cannot be ensured if menstruators are deprived of their basic rights.” Project अल्हड़ (Alharh) aims to create a robust sensitised community in Bhagalpur to collectively spread awareness, break the taboo, debunk myths and initiate fearless conversations around menstruation. The campaign aims to reach at least 6000 adolescent girls from government and private schools in Baghalpur district in 2020.

        Read more about the campaign here.

        A psychologist and co-founder of a mental health NGO called Customize Cognition, Ritika forayed into the space of menstrual health and hygiene, sexual and reproductive healthcare and rights and gender equality as an MHM Fellow with YKA. She says, “The experience of working on MHM/SRHR and gender equality has been an enriching and eye-opening experience. I have learned what’s beneath the surface of the issue, be it awareness, lack of resources or disregard for trans men, who also menstruate.”

        The Transmen-ses campaign aims to tackle the issue of silence and disregard for trans men’s menstruation needs, by mobilising gender sensitive health professionals and gender neutral restrooms in Lucknow.

        Read more about the campaign here.

        A Computer Science engineer by education, Nitisha started her career in the corporate sector, before realising she wanted to work in the development and social justice space. Since then, she has worked with Teach For India and Care India and is from the founding batch of Indian School of Development Management (ISDM), a one of its kind organisation creating leaders for the development sector through its experiential learning post graduate program.

        As a Youth Ki Awaaz Menstrual Health Fellow, Nitisha has started Let’s Talk Period, a campaign to mobilise young people to switch to sustainable period products. She says, “80 lakh women in Delhi use non-biodegradable sanitary products, generate 3000 tonnes of menstrual waste, that takes 500-800 years to decompose; which in turn contributes to the health issues of all menstruators, increased burden of waste management on the city and harmful living environment for all citizens.

        Let’s Talk Period aims to change this by

        Find out more about her campaign here.

        Share your details to download the report.

        We promise not to spam or send irrelevant information.

        A former Assistant Secretary with the Ministry of Women and Child Development in West Bengal for three months, Lakshmi Bhavya has been championing the cause of menstrual hygiene in her district. By associating herself with the Lalana Campaign, a holistic menstrual hygiene awareness campaign which is conducted by the Anahat NGO, Lakshmi has been slowly breaking taboos when it comes to periods and menstrual hygiene.

        A Gender Rights Activist working with the tribal and marginalized communities in india, Srilekha is a PhD scholar working on understanding body and sexuality among tribal girls, to fill the gaps in research around indigenous women and their stories. Srilekha has worked extensively at the grassroots level with community based organisations, through several advocacy initiatives around Gender, Mental Health, Menstrual Hygiene and Sexual and Reproductive Health Rights (SRHR) for the indigenous in Jharkhand, over the last 6 years.

        Srilekha has also contributed to sustainable livelihood projects and legal aid programs for survivors of sex trafficking. She has been conducting research based programs on maternal health, mental health, gender based violence, sex and sexuality. Her interest lies in conducting workshops for young people on life skills, feminism, gender and sexuality, trauma, resilience and interpersonal relationships.

        A Guwahati-based college student pursuing her Masters in Tata Institute of Social Sciences, Bidisha started the #BleedwithDignity campaign on the technology platform, demanding that the Government of Assam install
        biodegradable sanitary pad vending machines in all government schools across the state. Her petition on has already gathered support from over 90000 people and continues to grow.

        Bidisha was selected in’s flagship program ‘She Creates Change’ having run successful online advocacy
        campaigns, which were widely recognised. Through the #BleedwithDignity campaign; she organised and celebrated World Menstrual Hygiene Day, 2019 in Guwahati, Assam by hosting a wall mural by collaborating with local organisations. The initiative was widely covered by national and local media, and the mural was later inaugurated by the event’s chief guest Commissioner of Guwahati Municipal Corporation (GMC) Debeswar Malakar, IAS.

        Sign up for the Youth Ki Awaaz Prime Ministerial Brief below