Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult patients. The objective of this clinical case series is to describe the efficacy and safety of nusinersen in treating spinal muscular atrophy in 20 pediatric and 18 adult patients across six treatment centers in Kuwait. Functional motor assessments (Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, Hammersmith Functional Motor Scale Expanded, and Revised Upper Limb Module) were used to assess changes in motor function following nusinersen treatment. The safety assessment involved clinical monitoring of adverse events. The results demonstrate clinically meaningful or considerable improvement in motor performance for nearly all patients, lasting over 4 years in some cases. A total of 70% of patients in the pediatric cohort and 72% of patients in the adult cohort achieved a clinically meaningful improvement in motor function following nusinersen treatment. Additionally, nusinersen was well-tolerated in both cohorts. These findings add to the growing body of evidence relating to the clinical efficacy and safety of nusinersen.

Neurocysticercosis is the most common parasitic central nervous system disease and the major cause of epilepsy in non-Muslim developing countries. Cases also occur in non-endemic regions reflecting pattern of immigration from highly endemic areas. Intending to increase awareness of cysticercosis even in countries where the religion doesn’t allow pork intake we report seven cases of autochtonous infection diagnosed in Kuwait in the period from 2000 to 2004. Six children presented with seizures, three of them also had headache and vomiting. None was given cysticidal treatment however all showed complete resolution of ring enhancing lesions on neuroimaging and a favorable outcome. In a family with two affected members, another asymptomatic sibling showed a ring lesion that resolved spontaneously.

Asma Al Tawari is a consultant pediatrician, neurologist, and epileptologist. She graduated from Cairo University, continued the postgraduate training, and earned a diploma in child health from Dublin. She then secured the membership and a fellowship of the Royal College of Physicians of the United Kingdom. In the 1990s, she joined the pediatric neurology unit which provides services of in-patient and out-patient clinics as well as neurophysiological studies. This was initiated in the 1970s and covers the whole state of Kuwait. She underwent pediatric neurology training at The New Children Hospital, Sydney, Australia in 1998. In 2013, she received the certificate of the epilepsy and EEG fellowship from the King Faisal Specialty Hospital and Research Center, Saudi Commission for health specialties. She became the first epilepsy specialist and started running the first pediatric epilepsy service at the pediatric department AL Sabah Hospital. The modern digital technology was introduced for long-term video-EEG monitoring as part of presurgical evaluations for drug-resistant cases of epilepsy; however, surgical cases are boarded to a recognized epilepsy surgery center. The plan is to introduce the epilepsy surgery soon in Kuwait. She is a member of the Kuwait Medical Association (KMA), International League against Epilepsy (ILAE), Asian Ocean Child Neurology Association (AOCNA), Kuwait League against Epilepsy (KLAE). Milen Vladimir Pavlovic, MD, PhD, graduated from the University of Belgrade, Yugoslavia. He underwent training in pediatrics at the Institute for Mother and Child Health Care in Belgrade, Serbia. He gained further expertise in the fields of child neurology and epileptology at the Hospital for Neurology and Psychiatry for Children and Adolescents, University of Belgrade, during his clinical fellowship and academic research program under the mentorship of late professor Dr. Nebojša Jović. He earned his academic PhD degree on the thesis: Probability of seizure recurrence after withdrawal of antiepileptic drugs in developmental age. His entry into the world of pediatric epileptology started in the Pediatric Department of Krusevac Medical Center, Serbia, which then continued at the department of Pediatric Epileptology and Developmental Neurology, Institute for Health Care of Children and Adolescents, Novi Sad. Among regular clinical and academic activities, he participated in the clinical trial: Efficacy and safety of Eslicarbazepine Acetate (BIA 2-093) as an adjunctive therapy for refractory partial seizures in children, a double-blind randomized placebo controlled parallel group multicenter clinical trial (trial center 211). Since 2011, he has been working in Kuwait, thus further expanding his professional experience in the broad field of child neurology. He is at present a member of the consultant team of pediatric neurologists at tertiary level, Al Sabah Hospital, Pediatric Neurology Unit, headed by Dr. Asma al Tawari. He is also involved in clinical and academic activities of the pediatric neurology ward of the pediatric department, EEG laboratory, consultations in other hospitals and outpatient services of general pediatric–neurology clinic and specialized clinics, cerebral palsy clinic, and ketogenic diet clinic. He was one of the contributors to the Pediatric Department Clinical Guidelines, Al Sabah Hospital, Kuwait, in 2014. He is also the member of the ILAE, European Pediatric Neurology Society (EPNS), International Child Neurology Association (ICNA), Association of Clinical Neurophysiology of Serbia and Montenegro, Association of Child Neurologist of Serbia, KLAE, Kuwait Medical Association, and Serbian Medical Chamber. His clinical research has been published and cited in several international peer-reviewed journals (1–8). His main professional interests include: semiological and neurophysiological aspects of epileptic seizures, prognosis of epilepsy after drug withdrawal, and new treatment options in refractory childhood epilepsy.

Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult patients. The objective of this clinical case series is to describe the efficacy and safety of nusinersen in treating spinal muscular atrophy in 20 pediatric and 18 adult patients across six treatment centers in Kuwait. Functional motor assessments (Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, Hammersmith Functional Motor Scale Expanded, and Revised Upper Limb Module) were used to assess changes in motor function following nusinersen treatment. Safety assessment involved clinical monitoring of adverse events. The results demonstrate clinically meaningful or considerable improvement in motor performance for nearly all patients, lasting over 4 years in some cases. 70% of patients in the pediatric cohort and 72% of patients in the adult cohort achieved clinically meaningful improvement in motor function following nusinersen treatment. Additionally, nusinersen was well-tolerated in both cohorts. These findings add to the growing body of evidence relating to the clinical efficacy and safety of nusinersen.

The coexistence of spinal muscular atrophy (SMA) with other diseases has been rarely described. We report a unique case with dual pathogenic gene mutations: survival motor neuron 1 (SMN1) gene causing SMA and SLC13A5 gene causing citrate transporter deficiency-induced epilepsy (early infantile epileptic encephalopathy 25, OMIM 615905).A girl presented with recurrent focal seizures with semiology of eyelid blinking, deviation of eyes, and facial twitches, which started on the second day of her life. Interictal EEG showed bilateral multifocal and generalized discharges. Brain MRI revealed delayed myelination and generalized volume loss. PET scan showed diffuse cortical hypometabolism. She had refractory seizures, including two episodes of status epilepticus while being treated with various antiseizure medications. Genetic analysis revealed a homozygous deletion of the SLC13A5 gene at 17p13.1. At 1 year of age, progressive hypotonia, initially ascribed to seizures and antiseizure medications, the appearance of tongue fasciculations and the need for respiratory support, prompted testing for SMA. Mutation at the SMN1 gene locus (5q11.2-13.2) was found and an SMA type I diagnosis was established. EMG/nerve conduction velocity revealed a motor neuron disorder. She was started on nusinersen at the age of 2.5 years once it became available. She was tracheostomized for bilevel positive airway pressure support. At the age of 4.5 years, she had a cardiac arrest and passed away.This is a case report of coexistent mutations in the SMN1 and SCL13A5 genes with overlapping and diagnostically confusing features of progressive hypotonia. The constellation of these separate genetic entities constitutes a clinical phenotype that has not been reported previously.