Clinical and Radiological Evaluation of Pediatric Leukodystrophies: A Prospective Study from a Tertiary Care Center in Pakistan

Abstract

Objective: To evaluate the clinical and magnetic resonance imaging (MRI) characteristics of pediatric patients with leukodystrophies and assess the diagnostic value of MRI in a low-resource setting.

Materials & Methods: This prospective observational study was conducted at the Department of Radiology, Lady Reading Hospital, Peshawar, Pakistan, between January and November 2024. A total of 165 children under 14 years of age with clinically suspected leukodystrophies were included. MRI was performed using a

1.5 Tesla scanner and interpreted independently by two experienced radiologists. Radiological patterns were analyzed and correlated with clinical presentations. Statistical analysis assessed associations between imaging findings and specific symptoms.

Results: Of the 165 patients, the mean age was 5.8 years, with a slight male predominance. Spasticity (74%), developmental delay or regression (65%), and seizures (42%) were the most common clinical presentations. MRI revealed bilateral symmetrical white matter abnormalities in 80% of cases. Metachromatic leukodystrophy showed frontal white matter involvement with U-fiber sparing; adrenoleukodystrophy demonstrated occipital changes with contrast enhancement; and Krabbe disease exhibited a tigroid pattern with thalamic and cerebellar involvement. Contrast enhancement was significantly associated with neuroregression (p = 0.01), while cerebellar atrophy correlated with seizures (p = 0.03).

Conclusion: MRI provides critical diagnostic value for leukodystrophies in pediatric populations, especially in resource-limited environments. Recognizing characteristic imaging patterns facilitates early diagnosis, aiding timely intervention and improving outcomes.