Clinicoradiological profile of children presenting with global developmental delay and microcephaly

Objective: To study the clinical and radiological profile of children with Global developmental delay and microcephaly and correlate the clinical findings with structural brain lesions identified through neuroimaging. Methods: This single-centre study, conducted from April 1, 2017 to March 31, 2022, included 247 children with global developmental delay and microcephaly. Data was collected using a pre-designed proforma, documenting presenting complaints, birth and developmental history, growth patterns, physical and neurological examination results, associated co-morbidities with neuroimaging findings. Results: Among the 247 children, 197 (79.8 %) were under 5 years, and 50 (20.2 %) were over 5 years, with a male-to-female ratio of 1.5:1 and a median age of 3.3 years(1.1, 5). Perinatal asphyxia was noted in 83 children (33.6 %). A total of 145 children under 5 years (58.7 %) were malnourished, and 14 children over 5 years (28 %) were underweight. Seizures were the most common co-morbidity, affecting 154 children (62.3 %), visual abnormalities were detected in 118 children, (47.8 %) and hearing abnormalities in approximately one-sixth (15 %). Abnormal MRI was noted in 187 (75.7 %), with white matter lesions being the most common, observed in 155 children (62.7 %). Children born with birth asphyxia displayed significant MRI abnormalities in the ventricles, corpus callosum, and gray and white matter (p < 0.05). Conclusion: This study outlines the complex clinicoradiological profile of children with GDD and microcephaly, highlighting common MRI abnormalities such as white matter and corpus callosum lesions. Seizures and perinatal factors significantly affect MRI findings, underscoring the need for comprehensive evaluation and management strategies.