Vitamin responsive conditions are a “must know” area for every child neurologist, as vitamin treatments are simple, inexpensive and safe treatments for a host of neurological conditions. Child neurologists need to be able to promptly recognize and treat these entities. In this session, the speakers will discuss the latest developments in vitamin responsive epilepsies, encephalopathies, movement disorders and neuromuscular conditions. The four speakers will be Dr Ingrid Tein (Canada), Dr Haluk Topaloğlu (Turkey), Dr Naveen Sankhyan (India) and Dr Suvasini Sharma (India).
Dr Tein’s lecture will focus on vitamin responsive early infantile epileptic encephalopathies with special reference to pyridoxine dependent epilepsy and related disorders. The current guidelines on recognition and treatment of these conditions as well as the new genetic conditions now recognized to causing pyridoxine dependent epilepsy will be discussed. Dr Haluk Topaloğlu will discuss riboflavin responsive conditions with special emphasis on riboflavin transporter deficiency. The recent advances in clinical and genetic diagnosis and treatment strategies for riboflavin responsive disorders will be discussed.
Dr Sankhyan will discuss inherited and acquired neurological disorders responsive to vitamin B12 and Folate treatment. There will be a special focus on infantile tremor syndrome, an interesting condition characterized by infantile onset neuroregression, tremors, skin and hair changes, which responds very well to vitamin B12 therapy. Dr Sharma will cover the recognition,diagnosis and management of inborn errors of metabolism which respond to thiamine and biotin supplementation with special focus on the recently described biotin and thiamine responsive basal ganglia disease, caused by mutations in the SLC19A3 gene. Acquired neurological disorders caused by thiamine deficiency, such as Wernicke encephalopathy will also be discussed.
- Recognize common as well as rare and newly described vitamin responsive conditions in child neurology.
- Understand the diagnostic approach and treatment strategies.
- Trial of high dose riboflavin supplementation unexplained progressive peripheral and cranial neuropathies and neuronopathies.
- Vitamin trials in unexplained refractory seizures in young infants, and high dose vitamin trials in acute metabolic decompensations.
Suvasini Sharma, MD, DM; Lady Hardinge Medical College and Associated Kalawati Saran Children’s Hospital, New Delhi, India
Pyridoxine Dependent Epilepsy and Related Disorders: Recent Advances
Ingrid Tein, MD; The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Riboflavin Responsive Disorders
Dr Haluk Topaloğlu, MD; Hacettepe Children’s Hospital, Ankara, Turkey
Vitamin B12 and Folate Responsive Disorders
Naveen Sankhyan, MD, DM; Post Graduate Institute of Medical education and Research, Chandigarh, India
Thiamine and Biotin Responsive Disorders
Suvasini Sharma, MD, DM