Interesting Neurology Cases - 4 Case Presentation

Topic: Interesting Neurology Case.

When: September 9, 2023, at 09:00 AM Eastern Time ( US / Canada ).

Speaker: Dr. Kevin Jones, Dr. Kavita Srivastava, Dr. Esra Serdaroglu, and Dr. Sunita Venkateswaran.

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Case 1: "Finding the Needle in the Haystack Can Make All the Difference" by Dr. Kevin Jones.

This case is about a new onset refractory status epilepticus in an adolescent girl from a rare form of autoimmune encephalitis due to Anti Gaba A and Anti GAD65 antibodies, who recovered with the help of a multi-disciplinary team after a prolonged stay in the Paediatric Intensive Care Unit.

Dr. Kevin Jones is a Paediatric Neurologist and Epileptologist in the Comprehensive Paediatric Epilepsy Program at McMaster Children's Hospital. He is also an Associate Professor in the Department of Paediatrics, Division of Paediatric Neurology at McMaster University in Hamilton, Ontario, Canada. His care for children includes Medically Refractory Epilepsy, Infantile Spasms, Developmental and Epileptic Encephalopathies, and those undergoing Epilepsy Surgical Evaluation, Vagus Nerve Stimulation, and continuous EEG monitoring in the ICU. Dr. Jones is the Medical Director of the comprehensive Paediatric Epilepsy Program and the McMaster Children's Hospital Neurophysiology (EEG) Laboratory and leads the Vagus Nerve Stimulator, PICU continuous EEG monitoring, and EEG source localization services at McMaster Children's Hospital. He has served as the Ontario delegate of the Canadian Board of Electroencephalograph Technologists and as a member of the Awards Committee of the Canadian League against Epilepsy. He is a member of the McMaster Paediatric Neurology Residency Education Committee and the director for Paediatric Neurology Resident Research. Dr. Jones is a co-Hub lead of the McMaster Children's Hospital Project ECHO (Epilepsy across the Lifespan), a member of the Ontario Genetics and Epilepsy Project ECHO Hub and the Ontario Epilepsy Genetic Testing Program Steering Group. He is a member of the International Child Neurology Teaching Network (ICNTN) Epilepsy module from the International Child Neurology Association (ICNA), and the Canadian Epilepsy Teaching Network (CETN) team and co-lead of the CETN EEG training program from the Canadian League Against Epilepsy.

The core learning objectives of this case will be:

• Present a clinical approach to diagnosing and managing new-onset refractory status epilepticus through case-based learning.
• Demonstrate the importance of identifying actionable etiologies, which may lead to a better neurological outcome with the right treatment.
• Advocate for the detection of electrographic seizures in critically ill children using Continuous EEG monitoring and Quantitative EEG.
• Recognize the value of a multi-disciplinary team in the delivery of integrated care.

Case 2: "The Devil is in the (clinical) details" by Dr. Kavita Srivastava.

This case concerns progressive Myoclonus Epilepsy, where a detailed history was crucial to reach the correct diagnosis.

Dr. Kavita Srivastava, MD (Peds), FRCPCH (UK), Fellowship (Paediatric Neurology). She is the MP State, India topper in Biology, MBBS topper in all three Prof. exams, and has won 11 Gold medals. She has presented many paper awards at National and International Congresses.
She is a Paediatrics Professor specializing in Paediatric Epilepsy and Neurology at the Bharati Vidyapeeth Deemed University Medical College, Pune, India. She is a faculty and Co-ordinator of the IAP and Bharati Vidyapeeth Paediatric Neurology Fellowship; Secretary of the Association of Child Neurology (AOCN- India)- 2021-23. Dr. Kavita is the founder member and Secretary of the CNS (Child Neurology Society) in Pune, India; chief editor of the PEB (Paediatric EEG Basics) for Paediatricians
FLICNA member 2020-22, ILAE Task force member- Seizures & Epilepsy in tropics. She is a principal Investigator for several research projects and has over 30 publications. She has given several talks/CMEs at the Local, State, and National levels and faculty for BPNA PET1.
Dr. Kavita is the organizing secretary of the Neuropedicon (Pune, 2014). She gave talks at the National Paediatric Neuromuscular Symposium in February 2017, the National Conference of Paediatric Education in September 2017, the National Paediatric Neurotransmitter and Movement Disorders Symposium in June 2018, Child Neurocon Pune in February 2023.

The core learning objectives of this case will be:

• Detailed history taking and clinical examination are most important.
• Sophisticated investigations cannot replace the art of history-taking.

Case 3: "Movement Disorder Mimicking Cerebral Palsy" by Dr. Esra Serdaroglu.

This case is about a 4.5-year-old girl with severe hypotonia and global developmental delay. She was born with a difficult vaginal delivery and was observed in the Neonatal unit without intubation. The first complaints were floppiness and inability to hold the head or sit with support. She has had brief episodes of neck and trunk muscle contractions while gazing upwards since three months of age. She suffers from sleep disorders and extreme sweating. Metabolic screening, CK levels, and Cranial MRI are normal. Genetic testing revealed homozygous SLC18A2 variants causing a brain monoamine vesicular transport disease.

Dr. Esra Serdaroglu, MD PhD, is a Child Neurologist at Gazi University, Ankara, Turkiye. She completed a Paediatric Residency and Paediatric Neurology Fellowship at the Hacettepe University, Ankara. She has a PhD in Medical Biology (thesis on NF1). She received an EPNS Fellowship Award to visit Complex Motor Disorders Service in Evelina London Children's Hospital. She is actively involved in ICNA, EPNS, AOCNA, and MDS activities. She was the chair of the first FLICNA (Future Leaders of ICNA) committee.

The core learning objectives of this case will be:

• Many disorders with Neurodevelopmental delay may mimic cerebral palsy.
• The absence of perinatal history, progressive course, positive family history, and consanguinity, the disproportion between imaging and motor symptoms raise suspicion for cerebral palsy mimics.
• Autonomic dysregulation with extrapyramidal movements in the setting of normal cranial imaging are important clues for neurotransmitter disorders.

Case 4: "You Can Only See What You Are Looking For" by Dr. Sunita Venkateswaran.

This case concerns a teenage girl with an intellectual disability presenting with progressive gait difficulties. Appropriate MRI sequences, along with clear clinical phenotyping, were key in determining the diagnosis.

Dr. Sunita Venkateswaran is an Associate Professor in the Division of Paediatric Neurology, Department of Paediatrics at the Children's Hospital, London Health Sciences Centre, and a Clinician Scientist at the Children's Health Research Institute, Western University. She trained in the field of demyelinating diseases. She has expertise in Paediatric rare diseases, specifically leukodystrophies and NBIAs.

The core learning objectives of this case will be:

• Defining the type of hypertonia can guide neurological localization.
• Neurological localization leads to ordering appropriate MRI sequences and coming to a clear diagnosis.

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