NEUROLOGICAL MANIFESTATION OF INHERITED METABOLIC DISORDERS IN CHILDREN PRESENTING TO PEDIATRIC DEPARTMENT

Abstract

Objectives
To evaluate the neurological manifestations in children diagnosed with inherited metabolic disorders (IMDs), and to determine their clinical, biochemical, and radiological associations in a tertiary care pediatric setting.

Methodology
80 children with confirmed IMDs presented to Department of Pediatrics, CMH Rawalpindi were included in the study. Detailed clinical history, neurological examination, and demographic data were recorded. Laboratory investigations included serum ammonia, lactate, blood glucose, arterial blood gases, and advanced metabolic screening. Neuroimaging (MRI brain) and electroencephalography (EEG) were performed where indicated. Data were analyzed using descriptive and inferential statistics, with p < 0.05 considered statistically significant.

Results
Most children presented during infancy and early childhood, with a slight male predominance. Parental consanguinity was noted in 60% of cases. Seizures (65%) were the most common neurological manifestation, followed by developmental delay (56.3%) and hypotonia (47.5%). Movement disorders were observed in 17.5% of patients. Aminoacidopathies (30%) and organic acidemias (25%) were the most frequent diagnostic categories. Abnormal MRI findings were present in 62.5% of cases, and EEG abnormalities were observed in 55%. The mean age at presentation was 18.6 ± 10.4 months. Elevated serum ammonia and lactate levels were significantly associated with severe neurological manifestations (p < 0.05).

Conclusion
Neurological manifestations, including movement disorders, are prominent features of IMDs in children.