Journal of Pediatric Neurology and Neuroscience

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Table of Content: Volume 6, Issue 1

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Case Report Pages 222-226

Reversible Cerebral Vasoconstriction Syndrome following Exchange Transfusion and Steroids in a Child with Sickle Cell Disease: A Case Report

Authors: Matthew A Tester, BSc, Maksim Parfyonov, MD, FRCPC, Paul Webb, MD, FRCPC and Anita N Datta, MD, FRCPC

Abstract: Reversible cerebral vasoconstriction syndrome (RCVS) is clinical and radiographic entity with several identified triggers, characterized by severe headaches and a reversible “string of beads” appearance of cerebral vessels on vascular imaging. We report a case of a child with Sickle Cell Disease (SCD) who developed RCVS. A 5-year-old female with SCD presented with thunderclap headaches, followed by stabbing headaches after receiving an exchange transfusion and prednisolone. She developed ischemic infarcts in the left parietal and right paramedian frontal and parietal lobes.

Case Report Pages 217-221

Unusual Diagnosis and Extended Management of Chronic Inflammatory Demyelinating Polyneuropathy in an Unimmunized Patient

Authors: Victoria Danan, BA, Sabina Fridman, BS, Christine Lopez, DO and Areeba Basit, MD

Abstract: Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a rare autoimmune disorder, often of idiopathic cause, but one that can result as a complication of Guillain Barre Syndrome (GBS). It often affects patients around 50-years of age, and impacts males twice as much as females. The treatment plan and management of the disease is still being investigated and developed. Our report describes findings consistent with CIDP in a pediatric patient, with an undiagnosed infectious prodrome. The goals of this case report are to increase knowledge to correctly diagnose these patients that may have an atypical presentation in the pediatric population and to add to the data for longitudinal management of the disease.

Case Report Pages 214-213

Treatment of Bi-Allelic PRRT-2 Mutation Associated Ataxia and Paroxysmal Dyskinesia

Authors: Naini Shiswawala, BA and Sumit Parikh, MD

Abstract: PRRT2 is located on chromosome 16p11.2 and is a transmembrane protein highly expressed in the CNS that has been identified to play a role in epilepsy, movement disorders and hemiplegic migraines. Specifically, variants are identified in families with paroxysmal kinesigenic dyskinesia. Here, we present a patient with a biallelic mutation in PRRT2 leading to a more severe form of the condition who presented with epilepsy, episodic ataxia and dyskinesia in childhood. We demonstrate how oxcarbazepine can reduce the symptoms and allow the child to live without these movement disorders.

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Case Report Pages 211-213

Treatment of COVID Encephalitis in Pediatric Patient with IVIG

Authors: Joseph Collins, MD and Ali Jamal, MD

Abstract: We herein report a case of encephalitis in a pediatric patient with SARS-COVID-19 infection. The diagnosis is discussed consisting of physical exam, electroencephalogram, lumbar puncture, and MRI brain features. He was successfully treated with immunosuppressive therapy, intravenous immunoglobulin.

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Case Report Pages 207-210

It's a Bit Crowded in Here: Examining Pressure Reactivity in Craniocerebral Disproportion

Authors: Kristine Elizabeth Woodward, MD,MSc, Michael Joachim Esser, MD,PhD and Clare Naomi Gallagher, MD,PhD

Abstract: Pressure reactivity index (PRx) is a measure used to gain insights into cerebrovascular reactivity. It is generally used in acute settings such as traumatic brain injury and subarachnoid hemorrhage, however there is limited data on its utility in cases of slow compensatory changes in intracranial pressure such as craniocerebral disproportion.

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Case Report Pages 202-206

A Novel PPP2CA Gene Variant Presenting with Dystonia and Progressive Brain Atrophy

Authors: Cheng E, Cobben J and Ismayilova N

Abstract: PPP2CA gene mutations are rare and associated with a neurodevelopmental disorder with or without structural brain abnormalities. We present a case of a novel de novo PPP2CA gene mutation, namely c.176A > G (p.H is 59 Arg), leading to a phenotype of global developmental delay, seizures, dystonia and progressive brain atrophy.

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