Clinical pattern, neuroimaging findings and outcome of Acute Disseminated Encephalomyelitis in children: A retrospective study.

Objective: To determine the clinical spectrum, neuroimaging findings, and outcome of Acute Disseminated Encephalomyelitis (ADEM) in children.

Method: We conducted a descriptive cross sectional study of all children aged 6 months to 18 years, diagnosed with ADEM at Aga Khan University Hospital, Karachi from January 2018 till December 2022.

Results: This retrospective study enrolled 30 cases of ADEM, with a mean age of 6.

Clinical Spectrum, Treatment and Outcome of Children with Autoimmune Encephalitis.

Objective: To assess the clinical spectrum, treatment, and outcome of children with autoimmune encephalitis (AE).

Study Design: Descriptive study. Place and Duration of the Study: Department of Paediatrics, The Aga Khan University Hospital, Karachi, Pakistan, from January 2017 to December 2021.

Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report.

Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as well as the differentiation between congenital myasthenia, transient myasthenia, and autoimmune myasthenia. We present four cases of myasthenia between the ages of 10 and 30 months.

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Monogenic epilepsies are a significant etiology of pediatric epilepsy. These are now more easily identified due to advances in genetic testing. However, the utility of genetic testing in low to middle-income countries (LMICs) has not been fully explored.

Spectrum of Common Pediatric Neurological Disorders: A Cross-Sectional Study From Three Tertiary Care Centres Across Pakistan.

Background: There is dearth of information on the spectrum of neurological disorders among children less than 18 years of age. The aim of this study is to identify the commonly presenting neurological disorders among children aged ≤ 18 years in Pakistan.

Methods: We conducted a cross-sectional study at three tertiary care hospitals in Pakistan.

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.

Manganese (Mn) is an essential element for metabolic pathways but it can be toxic when present in excessive amounts in the body. Hypermanganesemia along with dystonia, polycythemia, characteristic MRI brain findings in the basal ganglia, and chronic liver disease are the hallmarks of an inherited Mn transporter defect due to mutations in the SLC30A10 gene. We are reporting three siblings who presented with features of dystonia, polycythemia, MRI brain showing basal ganglia hyperintensity on T1 weighted images and chronic liver disease.