Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center study

Abstract

<title>Abstract</title> Background Inborn errors of metabolism (IEMs) represent a diverse group of genetic disorders characterized by enzyme deficiencies in metabolic pathways, with a collective incidence exceeding 1 in 1,000 live births. Although many patients may appear asymptomatic at birth, they often present with nonspecific neurological symptoms later, complicating diagnosis and treatment. This study aims to identify various neurological manifestations in pediatric patients with IEMs and emphasize the importance of early recognition and management for improved outcomes. Methods This single-center study recruited pediatric patients (ages 0–18) diagnosed with IEMs presenting with neurological symptoms from the Mansoura University Children’s Hospital. Clinical data were collected, including demographic information, seizure characteristics, perinatal events, and family history. Laboratory investigations encompassed metabolic panels, tandem mass spectrometry, and urine organic acid analysis. Neuroimaging, including MRI and EEG, was also performed. Descriptive statistics were used to summarize the prevalence and types of neurological presentations in different IEM disorders. Results The study included 31 patients (15 males, 16 females), predominantly from consanguineous backgrounds (83.9%). The most common diagnosis was organic acidemia (51.6%), followed by mitochondrial disorders (22.6%). Seizures were the most frequent neurological presentation (71%), with generalized tonic-clonic seizures being the most prevalent type. EEG findings varied, with generalized epileptogenic dysfunction observed in 22.6% of cases. MRI results showed white matter involvement in 54.8% of patients, with basal ganglia and thalamic changes noted in organic acidemia cases. Conclusion Neurological manifestations of IEMs are varied, with seizures being a common feature. The study highlights the challenges in diagnosing IEMs due to their rarity and the necessity of a high index of suspicion, particularly in patients with acute encephalopathy. Timely diagnosis and intervention are crucial to prevent irreversible neurological damage. This study underscores the need for further research into IEMs in pediatric populations to enhance clinical understanding and management strategies.