Clinical insights and challenges: A rare case report of Leigh syndrome

Abstract

Leigh syndrome is a severe neurological disorder that impairs mobility and respiration, among other bodily functions. Progressive brain deterioration is what makes it distinctive. This case report describes a 10-monthold female child who displayed symptoms such as vibratory movements in the right upper and left lower limbs, failure to thrive, decreased activity, and vomiting after consuming supplemental feeds. Multiple clinical signs of Leigh syndrome, including missed developmental milestones and mild acute malnutrition, were identified during a physical examination. So the symptoms that led to the diagnosis of Leigh syndrome were quadriparesis, dystonia, intermittent stridor (laryngeal dystonia), and bulbar weakness. This was supported by various laboratory results and diagnostic procedures, including brain imaging. The treatment included pacitane, thiamine, biotin, l-carnitine, calcium + vitamin d3, and sodium benzoate as well as dietary assistance and other medicines. Leigh syndrome is an incredibly rare disorder that has major effects on those affected and often manifests in infancy or early childhood. It is characterized by things like vomiting, feeding issues, neurological impairments, and delays in development. Sadly, because Leigh syndrome is a degenerative condition, the outlook for those who have it is frequently bleak. In cases with Leigh syndrome, this case emphasizes the value of early diagnosis and interdisciplinary treatment. The patient was instructed to have additional testing such as an EEG and a disability evaluation. Healthcare professionals must be aware of the clinical manifestation and treatment of Leigh syndrome in order to give affected people and their families the right care and support.