Genetic and metabolic diagnostic profile of children presented with spastic paraplegia/diplegia

• Hereditary spastic paraplegia and leukodystrophies were among the most commonly identified conditions. • The high rate of consanguinity observed among affected families likely contributes to the predominance of autosomal recessive neurogenetic conditions in our cohort. • This study represents a significant contribution to the field of pediatric neurogenetics by expanding the known mutational spectrum associated with spastic diplegia and paraplegia. • This research underscores the need for greater awareness among clinicians regarding genetic mimics of the static encephalopathy condition, cerebral palsy. Spastic paraplegia/diplegia in children may be an early manifestation of underlying neurogenetic disorders which are often underdiagnosed in clinical practice. The aim of the study is to investigate the genetic causes and clinical characteristics of neurogenetic disorders presenting with spastic diplegia/paraplegia in children. A retrospective analysis of medical records of children aged 0 – 18 years who were reported to have spastic paraplegia/diplegia as a core clinical feature with confirmed genetic etiologies was conducted. Data on demographic and clinical features, neuroimaging, and available genetic testing results were analyzed. A total of 53 patients fulfilled the study eligibility criteria. The study comprises 27 males (50.9%) with male: female ratio 1.04:1. Mean age of onset is approximately 3 years. Walking difficulty/gait disturbance/posturing of limbs were the commonest presenting features (29, 54.7%). The two commonest neurological disorders identified were leukodystrophies/genetic leukoencephalopathies (20, 37.7%) and hereditary spastic paraplegia (15, 28%). The most frequent abnormalities found in neuroimaging were signal abnormalities in the white matter and thinning of corpus callosum. This study contributes with 23 novel mutations that were not reported in other non-Iraqi patients. A comprehensive clinical approach to patients with spastic paraplegia/diplegia will aid in early diagnosis, targeted management, and improve counseling in pediatric neurology practice. We contribute to the regional and international data on the genetic spectrum of spastic paraplegia/diplegia.